LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
- Conclusions
- The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
Variants (592)
- Gene summary:
- No gene (5)
- APEX1 (2)
- APTX (8)
- ATM (8)
- ATR (8)
- BIVM (1)
- BLM (15)
- BRIP1 (13)
- BRPF1 (1)
- CAMK1 (4)
- CARMIL2 (2)
- CIDECP (1)
- DCLRE1C (12)
- DDB1 (3)
- DDB2 (6)
- ERCC1 (6)
- ERCC2 (9)
- ERCC3 (4)
- ERCC4 (3)
- ERCC5 (12)
- ERCC6 (11)
- ERCC8 (8)
- EXO1 (16)
- FANCA (11)
- FANCD2 (6)
- FANCI (1)
- FEN1 (2)
- H2AFX (1)
- HMBS (1)
- HMGB1 (1)
- KARS (1)
- LIG1 (8)
- LIG3 (4)
- LIG4 (6)
- LOC105371093 (1)
- LONP1 (5)
- LRRC14 (1)
- MAN2C1 (1)
- MLH1 (5)
- MLH3 (3)
- MRE11 (12)
- MSH2 (11)
- MSH3 (25)
- MSH6 (9)
- NBN (11)
- NEIL2 (13)
- OGG1 (2)
- PARP1 (8)
- PCNA (3)
- PIF1 (3)
- PINLYP (2)
- PMS1 (6)
- PMS2 (5)
- PNKP (1)
- POLB (3)
- POLD1 (5)
- POLE (10)
- POLG (5)
- POLRMT (2)
- POT1 (5)
- PPIH (1)
- PRKDC (10)
- RAD23B (13)
- RAD50 (3)
- RAD51 (5)
- RAD52 (11)
- RAD54L (7)
- RECQL (17)
- RECQL4 (1)
- RECQL5 (1)
- RFC1 (9)
- RPA1 (15)
- SLC9A3R2 (1)
- SPIB (1)
- SUPV3L1 (4)
- TERF1 (5)
- TERF2 (8)
- TERF2IP (3)
- TERT (11)
- TFAM (6)
- TMEM230 (1)
- TP53 (8)
- TSC2 (1)
- TWNK (1)
- UNG (5)
- WRN (17)
- XPA (8)
- XPC (8)
- XRCC1 (10)
- XRCC4 (17)
- XRCC5 (20)
- YBX1 (7)
No gene
APEX1
Gene details
- HGNC symbol
- APEX1
- Aliases
- APE; APX; APE1; APEN; APEX; HAP1; REF1
- Common name
- apurinic/apyrimidinic endodeoxyribonuclease 1
- Description
- Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 107748
- Ensembl
- ENSG00000100823
- UniProt/Swiss-Prot
- APEX1_HUMAN
- Entrez Gene
- 328
- UniGene
- 73722
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- exo-3
- Danio rerio
- apex1
- Drosophila melanogaster
- Rrp1
- Mus musculus
- Apex1
- Rattus norvegicus
- Apex1
- Saccharomyces cerevisiae
- APN2
In other databases
APTX
Gene details
- HGNC symbol
- APTX
- Aliases
- AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
- Common name
- aprataxin
- Description
- This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
- Other longevity studies of this gene
- 7
- OMIM
- 606350
- Ensembl
- ENSG00000137074
- UniProt/Swiss-Prot
- APTX_HUMAN
- Entrez Gene
- 54840
- UniGene
- 20158
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- aptx
- Drosophila melanogaster
- CG5316
- Mus musculus
- Aptx
- Rattus norvegicus
- Aptx
- Saccharomyces cerevisiae
- HNT3
- Schizosaccharomyces pombe
- hnt3
In other databases
ATM
Gene details
- HGNC symbol
- ATM
- Aliases
- AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1
- Common name
- ATM serine/threonine kinase
- Description
- The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
- Other longevity studies of this gene
- 14
- OMIM
- 607585
- Ensembl
- ENSG00000149311
- UniProt/Swiss-Prot
- A0A024R3C7_HUMAN
- Entrez Gene
- 472
- UniGene
- 367437
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- atm-1
- Danio rerio
- atm
- Drosophila melanogaster
- tefu
- Mus musculus
- Atm
- Rattus norvegicus
- Atm
- Saccharomyces cerevisiae
- TEL1
In other databases
ATR
Gene details
- HGNC symbol
- ATR
- Aliases
- FRP1; MEC1; SCKL; FCTCS; SCKL1
- Common name
- ATR serine/threonine kinase
- Description
- The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 10
- OMIM
- 601215
- Ensembl
- ENSG00000175054
- UniProt/Swiss-Prot
- ATR_HUMAN
- Entrez Gene
- 545
- UniGene
- 271791
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- atr
- Drosophila melanogaster
- mei-41
- Mus musculus
- Atr
- Rattus norvegicus
- Atr
- Saccharomyces cerevisiae
- MEC1
- Schizosaccharomyces pombe
- rad3
In other databases
BIVM
Gene details
- HGNC symbol
- BIVM
- Aliases
- Common name
- basic, immunoglobulin-like variable motif containing
- Description
- OMIM
- Ensembl
- ENSG00000134897
- UniProt/Swiss-Prot
- BIVM_HUMAN
- Entrez Gene
- 54841
- UniGene
- 288809
- HapMap
- View on HapMap
Homologs in model organisms
BLM
Gene details
- HGNC symbol
- BLM
- Aliases
- BS; RECQ2; RECQL2; RECQL3
- Common name
- Bloom syndrome RecQ like helicase
- Description
- The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 14
- OMIM
- 604610
- Ensembl
- ENSG00000197299
- UniProt/Swiss-Prot
- B7ZKN7_HUMAN
- Entrez Gene
- 641
- UniGene
- 725208
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- him-6
- Danio rerio
- blm
- Drosophila melanogaster
- Blm
- Mus musculus
- Blm
- Rattus norvegicus
- Blm
- Saccharomyces cerevisiae
- SGS1
- Schizosaccharomyces pombe
- rqh1
In other databases
BRIP1
Gene details
- HGNC symbol
- BRIP1
- Aliases
- OF; BACH1; FANCJ
- Common name
- BRCA1 interacting protein C-terminal helicase 1
- Description
- The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 12
- OMIM
- 605882
- Ensembl
- ENSG00000136492
- UniProt/Swiss-Prot
- A0A024QZ45_HUMAN
- Entrez Gene
- 83990
- UniGene
- 128903
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- dog-1
- Danio rerio
- brip1
- Mus musculus
- Brip1
- Rattus norvegicus
- Brip1
- Saccharomyces cerevisiae
- CHL1
In other databases
BRPF1
Gene details
- HGNC symbol
- BRPF1
- Aliases
- BR140; IDDDFP
- Common name
- bromodomain and PHD finger containing 1
- Description
- This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
- OMIM
- 602410
- Ensembl
- ENSG00000156983
- UniProt/Swiss-Prot
- BRPF1_HUMAN
- Entrez Gene
- 7862
- UniGene
- 1004
- HapMap
- View on HapMap
Homologs in model organisms
CAMK1
Gene details
- HGNC symbol
- CAMK1
- Aliases
- CAMKI
- Common name
- calcium/calmodulin dependent protein kinase I
- Description
- Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 604998
- Ensembl
- ENSG00000134072
- UniProt/Swiss-Prot
- B0YIY3_HUMAN
- Entrez Gene
- 8536
- UniGene
- 434875
- HapMap
- View on HapMap
Homologs in model organisms
CARMIL2
Gene details
- HGNC symbol
- CARMIL2
- Aliases
- RLTPR; LRRC16C; CARMIL2b
- Common name
- capping protein regulator and myosin 1 linker 2
- Description
- Other longevity studies of this gene
- 1
- OMIM
- 610859
- Ensembl
- ENSG00000159753
- UniProt/Swiss-Prot
- CARL2_HUMAN
- Entrez Gene
- 146206
- UniGene
- 611432
- HapMap
- View on HapMap
Homologs in model organisms
CIDECP
Gene details
- HGNC symbol
- CIDECP
- Aliases
- CICE
- Common name
- cell death-inducing DFFA-like effector c pseudogene
- Description
- OMIM
- Ensembl
- ENSG00000186162
- UniProt/Swiss-Prot
- Entrez Gene
- 152302
- UniGene
- 635072
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
DCLRE1C
Gene details
- HGNC symbol
- DCLRE1C
- Aliases
- SCIDA; SNM1C; A-SCID; RS-SCID; DCLREC1C
- Common name
- DNA cross-link repair 1C
- Description
- This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
- Other longevity studies of this gene
- 11
- OMIM
- 605988
- Ensembl
- ENSG00000152457
- UniProt/Swiss-Prot
- B3KMX5_HUMAN
- Entrez Gene
- 64421
- UniGene
- 655932
- HapMap
- View on HapMap
Homologs in model organisms
DDB1
Gene details
- HGNC symbol
- DDB1
- Aliases
- XPE; DDBA; XAP1; XPCE; XPE-BF; UV-DDB1
- Common name
- damage specific DNA binding protein 1
- Description
- The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]
- Other longevity studies of this gene
- 2
- OMIM
- 600045
- Ensembl
- ENSG00000167986
- UniProt/Swiss-Prot
- DDB1_HUMAN
- Entrez Gene
- 1642
- UniGene
- 290758
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- ddb-1
- Danio rerio
- ddb1
- Drosophila melanogaster
- pic
- Mus musculus
- Ddb1
- Rattus norvegicus
- Ddb1
- Saccharomyces cerevisiae
- RSE1
- Schizosaccharomyces pombe
- ddb1
In other databases
- CellAge
- This gene is present as DDB1
DDB2
Gene details
- HGNC symbol
- DDB2
- Aliases
- XPE; DDBB; UV-DDB2
- Common name
- damage specific DNA binding protein 2
- Description
- This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
- Other longevity studies of this gene
- 5
- OMIM
- 600811
- Ensembl
- ENSG00000134574
- UniProt/Swiss-Prot
- DDB2_HUMAN
- Entrez Gene
- 1643
- UniGene
- 700338
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
ERCC1
Gene details
- HGNC symbol
- ERCC1
- Aliases
- UV20; COFS4; RAD10
- Common name
- ERCC excision repair 1, endonuclease non-catalytic subunit
- Description
- The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
- Other longevity studies of this gene
- 9
- OMIM
- 126380
- Ensembl
- ENSG00000012061
- UniProt/Swiss-Prot
- A0A024R0Q6_HUMAN
- Entrez Gene
- 2067
- UniGene
- 435981
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- ercc-1
- Danio rerio
- ercc1
- Drosophila melanogaster
- Ercc1
- Mus musculus
- Ercc1
- Rattus norvegicus
- Ercc1
- Saccharomyces cerevisiae
- RAD10
- Schizosaccharomyces pombe
- swi10
In other databases
ERCC2
Gene details
- HGNC symbol
- ERCC2
- Aliases
- EM9; TTD; XPD; TTD1; COFS2; TFIIH
- Common name
- ERCC excision repair 2, TFIIH core complex helicase subunit
- Description
- The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
- Other longevity studies of this gene
- 17
- OMIM
- 126340
- Ensembl
- ENSG00000104884
- UniProt/Swiss-Prot
- ERCC2_HUMAN
- Entrez Gene
- 2068
- UniGene
- 487294
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- Y50D7A.11
- Danio rerio
- ercc2
- Drosophila melanogaster
- Xpd
- Mus musculus
- Ercc2
- Rattus norvegicus
- Ercc2
- Saccharomyces cerevisiae
- RAD3
- Schizosaccharomyces pombe
- rad15
In other databases
ERCC3
Gene details
- HGNC symbol
- ERCC3
- Aliases
- XPB; BTF2; TTD2; GTF2H; RAD25; TFIIH
- Common name
- ERCC excision repair 3, TFIIH core complex helicase subunit
- Description
- This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
- Other longevity studies of this gene
- 3
- OMIM
- 133510
- Ensembl
- ENSG00000163161
- UniProt/Swiss-Prot
- B3KRG2_HUMAN
- Entrez Gene
- 2071
- UniGene
- 469872
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- xpb-1
- Danio rerio
- ercc3
- Drosophila melanogaster
- hay
- Mus musculus
- Ercc3
- Rattus norvegicus
- Ercc3
- Saccharomyces cerevisiae
- SSL2
- Schizosaccharomyces pombe
- ercc3
In other databases
- GenAge human genes
- This gene is present as ERCC3
ERCC4
Gene details
- HGNC symbol
- ERCC4
- Aliases
- XPF; RAD1; FANCQ; XFEPS; ERCC11
- Common name
- ERCC excision repair 4, endonuclease catalytic subunit
- Description
- The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
- Other longevity studies of this gene
- 2
- OMIM
- 133520
- Ensembl
- ENSG00000175595
- UniProt/Swiss-Prot
- B4DXD8_HUMAN
- Entrez Gene
- 2072
- UniGene
- 567265
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- xpf-1
- Danio rerio
- ercc4
- Drosophila melanogaster
- mei-9
- Mus musculus
- Ercc4
- Rattus norvegicus
- AC117889.1
- Rattus norvegicus
- Ercc4
- Saccharomyces cerevisiae
- RAD1
- Schizosaccharomyces pombe
- rad16
In other databases
ERCC5
Gene details
- HGNC symbol
- ERCC5
- Aliases
- XPG; UVDR; XPGC; COFS3; ERCM2; ERCC5-201
- Common name
- ERCC excision repair 5, endonuclease
- Description
- This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
- Other longevity studies of this gene
- 17
- OMIM
- 133530
- Ensembl
- ENSG00000134899
- UniProt/Swiss-Prot
- ERCC5_HUMAN
- Entrez Gene
- 2073
- UniGene
- 258429
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- xpg-1
- Caenorhabditis elegans
- gen-1
- Danio rerio
- ercc5
- Drosophila melanogaster
- mus201
- Mus musculus
- Ercc5
- Rattus norvegicus
- Ercc5
- Saccharomyces cerevisiae
- RAD2
- Schizosaccharomyces pombe
- rad13
In other databases
- GenAge human genes
- This gene is present as ERCC5
ERCC6
Gene details
- HGNC symbol
- ERCC6
- Aliases
- CSB; CKN2; COFS; ARMD5; COFS1; POF11; RAD26; UVSS1
- Common name
- ERCC excision repair 6, chromatin remodeling factor
- Description
- This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
- Other longevity studies of this gene
- 10
- OMIM
- 609413
- Ensembl
- ENSG00000225830
- UniProt/Swiss-Prot
- A8K4Q3_HUMAN
- Entrez Gene
- 2074
- UniGene
- 49063
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- ercc6
- Mus musculus
- Ercc6
- Rattus norvegicus
- Ercc6
- Saccharomyces cerevisiae
- RAD26
- Schizosaccharomyces pombe
- rhp26
In other databases
- GenAge human genes
- This gene is present as ERCC6
ERCC8
Gene details
- HGNC symbol
- ERCC8
- Aliases
- CSA; CKN1; UVSS2
- Common name
- ERCC excision repair 8, CSA ubiquitin ligase complex subunit
- Description
- This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
- Other longevity studies of this gene
- 7
- OMIM
- 609412
- Ensembl
- ENSG00000049167
- UniProt/Swiss-Prot
- A0A0S2Z3L1_HUMAN
- Entrez Gene
- 1161
- UniGene
- 435237
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- ercc8
- Mus musculus
- Ercc8
- Rattus norvegicus
- Ercc8
- Saccharomyces cerevisiae
- RAD28
- Schizosaccharomyces pombe
- ckn1
In other databases
- GenAge human genes
- This gene is present as ERCC8
EXO1
Gene details
- HGNC symbol
- EXO1
- Aliases
- HEX1; hExoI
- Common name
- exonuclease 1
- Description
- This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 20
- OMIM
- 606063
- Ensembl
- ENSG00000174371
- UniProt/Swiss-Prot
- A8K5H6_HUMAN
- Entrez Gene
- 9156
- UniGene
- 498248
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- exo-1
- Danio rerio
- exo1
- Drosophila melanogaster
- tos
- Mus musculus
- Exo1
- Rattus norvegicus
- Exo1
- Saccharomyces cerevisiae
- EXO1
- Saccharomyces cerevisiae
- DIN7
In other databases
FANCA
Gene details
- HGNC symbol
- FANCA
- Aliases
- FA; FA1; FAA; FAH; FA-H; FACA; FANCH
- Common name
- Fanconi anemia complementation group A
- Description
- The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 10
- OMIM
- 607139
- Ensembl
- ENSG00000187741
- UniProt/Swiss-Prot
- FANCA_HUMAN
- Entrez Gene
- 2175
- UniGene
- 744083
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- CABZ01081622.1
- Mus musculus
- Fanca
- Rattus norvegicus
- Fanca
In other databases
- CellAge gene expression
- This gene is present as FANCA
FANCD2
Gene details
- HGNC symbol
- FANCD2
- Aliases
- FA4; FAD; FACD; FAD2; FA-D2; FANCD
- Common name
- Fanconi anemia complementation group D2
- Description
- The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
- Other longevity studies of this gene
- 5
- OMIM
- 613984
- Ensembl
- ENSG00000144554
- UniProt/Swiss-Prot
- A0A024R2G2_HUMAN
- Entrez Gene
- 2177
- UniGene
- 208388
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
FANCI
Gene details
- HGNC symbol
- FANCI
- Aliases
- KIAA1794
- Common name
- Fanconi anemia complementation group I
- Description
- The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
- OMIM
- 611360
- Ensembl
- ENSG00000140525
- UniProt/Swiss-Prot
- B3KNW8_HUMAN
- Entrez Gene
- 55215
- UniGene
- 513126
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as FANCI
FEN1
Gene details
- HGNC symbol
- FEN1
- Aliases
- MF1; RAD2; FEN-1
- Common name
- flap structure-specific endonuclease 1
- Description
- The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 600393
- Ensembl
- ENSG00000168496
- UniProt/Swiss-Prot
- FEN1_HUMAN
- Entrez Gene
- 2237
- UniGene
- 409065
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- crn-1
- Danio rerio
- fen1
- Mus musculus
- Fen1
- Rattus norvegicus
- Fen1
- Saccharomyces cerevisiae
- RAD27
- Schizosaccharomyces pombe
- rad2
In other databases
H2AFX
Gene details
- HGNC symbol
- H2AFX
- Aliases
- H2AX; H2A.X; H2A/X
- Common name
- H2A histone family member X
- Description
- Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Oct 2015]
- Other longevity studies of this gene
- 1
- OMIM
- 601772
- Ensembl
- ENSG00000188486
- UniProt/Swiss-Prot
- H2AX_HUMAN
- Entrez Gene
- 3014
- UniGene
- 477879
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- zgc:195633
- Danio rerio
- zgc:110434
- Danio rerio
- zgc:165551
- Danio rerio
- si:ch73-368j24.15
- Danio rerio
- zgc:101846
- Danio rerio
- zgc:165551
- Danio rerio
- h2afx
- Danio rerio
- si:ch1073-159d7.9
- Danio rerio
- zgc:110434
- Danio rerio
- zgc:195633
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33865
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33847
- Drosophila melanogaster
- His2A:CG33826
- Drosophila melanogaster
- His2A:CG33865
- Mus musculus
- H2afx
- Rattus norvegicus
- H2afx
- Saccharomyces cerevisiae
- HTA1
In other databases
HMBS
Gene details
- HGNC symbol
- HMBS
- Aliases
- UPS; PBGD; PORC; PBG-D
- Common name
- hydroxymethylbilane synthase
- Description
- This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
- OMIM
- 609806
- Ensembl
- ENSG00000256269
- UniProt/Swiss-Prot
- HEM3_HUMAN
- Entrez Gene
- 3145
- UniGene
- 82609
- HapMap
- View on HapMap
Homologs in model organisms
HMGB1
Gene details
- HGNC symbol
- HMGB1
- Aliases
- HMG1; HMG3; HMG-1; SBP-1
- Common name
- high mobility group box 1
- Description
- This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]
- OMIM
- 163905
- Ensembl
- ENSG00000189403
- UniProt/Swiss-Prot
- A0A024RDR0_HUMAN
- Entrez Gene
- 3146
- UniGene
- 434102
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- hmg-1.2
- Danio rerio
- hmgb1b
- Danio rerio
- hmgb1a
- Drosophila melanogaster
- Dsp1
- Rattus norvegicus
- Hmg1l1
- Rattus norvegicus
- AC135696.1
- Saccharomyces cerevisiae
- NHP6A
- Saccharomyces cerevisiae
- NHP6B
In other databases
KARS
Gene details
- HGNC symbol
- KARS
- Aliases
- KRS; KARS1; KARS2; CMTRIB; DFNB89
- Common name
- lysyl-tRNA synthetase
- Description
- Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
- OMIM
- 601421
- Ensembl
- ENSG00000065427
- UniProt/Swiss-Prot
- SYK_HUMAN
- Entrez Gene
- 3735
- UniGene
- 3100
- HapMap
- View on HapMap
Homologs in model organisms
LIG1
Gene details
- HGNC symbol
- LIG1
- Aliases
- Common name
- DNA ligase 1
- Description
- This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
- Other longevity studies of this gene
- 7
- OMIM
- 126391
- Ensembl
- ENSG00000105486
- UniProt/Swiss-Prot
- B4DM52_HUMAN
- Entrez Gene
- 3978
- UniGene
- 1770
- HapMap
- View on HapMap
Homologs in model organisms
LIG3
Gene details
- HGNC symbol
- LIG3
- Aliases
- LIG2
- Common name
- DNA ligase 3
- Description
- This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 600940
- Ensembl
- ENSG00000005156
- UniProt/Swiss-Prot
- DNLI3_HUMAN
- Entrez Gene
- 3980
- UniGene
- 100299
- HapMap
- View on HapMap
Homologs in model organisms
LIG4
Gene details
- HGNC symbol
- LIG4
- Aliases
- LIG4S
- Common name
- DNA ligase 4
- Description
- The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 5
- OMIM
- 601837
- Ensembl
- ENSG00000174405
- UniProt/Swiss-Prot
- A0A024RE06_HUMAN
- Entrez Gene
- 3981
- UniGene
- 166091
- HapMap
- View on HapMap
Homologs in model organisms
LOC105371093
Gene details
- HGNC symbol
- LOC105371093
- Aliases
- Common name
- uncharacterized LOC105371093
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105371093
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LONP1
Gene details
- HGNC symbol
- LONP1
- Aliases
- LON; LONP; PIM1; hLON; LonHS; CODASS; PRSS15
- Common name
- lon peptidase 1, mitochondrial
- Description
- This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
- Other longevity studies of this gene
- 4
- OMIM
- 605490
- Ensembl
- ENSG00000196365
- UniProt/Swiss-Prot
- LONM_HUMAN
- Entrez Gene
- 9361
- UniGene
- 350265
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- C34B2.6
- Danio rerio
- lonp1
- Drosophila melanogaster
- Lon
- Mus musculus
- Lonp1
- Rattus norvegicus
- Lonp1
- Saccharomyces cerevisiae
- PIM1
- Schizosaccharomyces pombe
- pim1
In other databases
LRRC14
Gene details
- HGNC symbol
- LRRC14
- Aliases
- LRRC14A
- Common name
- leucine rich repeat containing 14
- Description
- This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
- OMIM
- Ensembl
- ENSG00000160959
- UniProt/Swiss-Prot
- LRC14_HUMAN
- Entrez Gene
- 9684
- UniGene
- 459391
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- si:ch73-174h16.4
- Mus musculus
- Lrrc14
- Rattus norvegicus
- Lrrc14
MAN2C1
Gene details
- HGNC symbol
- MAN2C1
- Aliases
- MANA; MANA1; MAN6A8
- Common name
- mannosidase alpha class 2C member 1
- Description
- OMIM
- 154580
- Ensembl
- ENSG00000140400
- UniProt/Swiss-Prot
- A0A140VJN9_HUMAN
- Entrez Gene
- 4123
- UniGene
- 26232
- HapMap
- View on HapMap
Homologs in model organisms
MLH1
Gene details
- HGNC symbol
- MLH1
- Aliases
- FCC2; COCA2; HNPCC; hMLH1; HNPCC2
- Common name
- mutL homolog 1
- Description
- This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]
- Other longevity studies of this gene
- 8
- OMIM
- 120436
- Ensembl
- ENSG00000076242
- UniProt/Swiss-Prot
- A0A024R2S9_HUMAN
- Entrez Gene
- 4292
- UniGene
- 195364
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- mlh-1
- Danio rerio
- mlh1
- Drosophila melanogaster
- Mlh1
- Mus musculus
- Mlh1
- Rattus norvegicus
- Mlh1
- Saccharomyces cerevisiae
- MLH1
- Schizosaccharomyces pombe
- mlh1
In other databases
- GenAge human genes
- This gene is present as MLH1
MLH3
Gene details
- HGNC symbol
- MLH3
- Aliases
- HNPCC7
- Common name
- mutL homolog 3
- Description
- This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 604395
- Ensembl
- ENSG00000119684
- UniProt/Swiss-Prot
- MLH3_HUMAN
- Entrez Gene
- 27030
- UniGene
- 436650
- HapMap
- View on HapMap
Homologs in model organisms
MRE11
Gene details
- HGNC symbol
- MRE11
- Aliases
- ATLD; HNGS1; MRE11A; MRE11B
- Common name
- MRE11 homolog, double strand break repair nuclease
- Description
- This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 11
- OMIM
- 600814
- Ensembl
- ENSG00000020922
- UniProt/Swiss-Prot
- A0A024R395_HUMAN
- Entrez Gene
- 4361
- UniGene
- 192649
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- mre-11
- Danio rerio
- mre11a
- Drosophila melanogaster
- mre11
- Mus musculus
- Mre11a
- Rattus norvegicus
- Mre11a
- Saccharomyces cerevisiae
- MRE11
- Schizosaccharomyces pombe
- rad32
In other databases
MSH2
Gene details
- HGNC symbol
- MSH2
- Aliases
- FCC1; COCA1; HNPCC; LCFS2; HNPCC1
- Common name
- mutS homolog 2
- Description
- This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
- Other longevity studies of this gene
- 10
- OMIM
- 609309
- Ensembl
- ENSG00000095002
- UniProt/Swiss-Prot
- MSH2_HUMAN
- Entrez Gene
- 4436
- UniGene
- 597656
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- msh-2
- Danio rerio
- msh2
- Drosophila melanogaster
- spel1
- Mus musculus
- Msh2
- Rattus norvegicus
- Msh2
- Saccharomyces cerevisiae
- MSH2
- Schizosaccharomyces pombe
- msh2
In other databases
MSH3
Gene details
- HGNC symbol
- MSH3
- Aliases
- DUP; FAP4; MRP1
- Common name
- mutS homolog 3
- Description
- The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]
- Other longevity studies of this gene
- 24
- OMIM
- 600887
- Ensembl
- ENSG00000113318
- UniProt/Swiss-Prot
- MSH3_HUMAN
- Entrez Gene
- 4437
- UniGene
- 280987
- HapMap
- View on HapMap
Homologs in model organisms
MSH6
Gene details
- HGNC symbol
- MSH6
- Aliases
- GTBP; HSAP; p160; GTMBP; HNPCC5
- Common name
- mutS homolog 6
- Description
- This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
- Other longevity studies of this gene
- 8
- OMIM
- 600678
- Ensembl
- ENSG00000116062
- UniProt/Swiss-Prot
- MSH6_HUMAN
- Entrez Gene
- 2956
- UniGene
- 445052
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- msh-6
- Danio rerio
- msh6
- Drosophila melanogaster
- Msh6
- Mus musculus
- Msh6
- Rattus norvegicus
- Msh6
- Saccharomyces cerevisiae
- MSH6
- Schizosaccharomyces pombe
- msh6
In other databases
NBN
Gene details
- HGNC symbol
- NBN
- Aliases
- ATV; NBS; P95; NBS1; AT-V1; AT-V2
- Common name
- nibrin
- Description
- Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 13
- OMIM
- 602667
- Ensembl
- ENSG00000104320
- UniProt/Swiss-Prot
- A0A0C4DG07_HUMAN
- Entrez Gene
- 4683
- UniGene
- 492208
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
NEIL2
Gene details
- HGNC symbol
- NEIL2
- Aliases
- NEH2; NEI2
- Common name
- nei like DNA glycosylase 2
- Description
- This gene encodes a member of the Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This enzyme is primarily associated with DNA repair during transcription and acts prefentially on cytosine-derived lesions, particularly 5-hydroxyuracil and 5-hydroxycytosine. It contains an N-terminal catalytic domain, a hinge region, and a C-terminal DNA-binding domain with helix-two-turn-helix and zinc finger motifs. This enzyme interacts with the X-ray cross complementing factor 1 scaffold protein as part of a multi-protein DNA repair complex. A pseudogene of this gene has been identified. [provided by RefSeq, Mar 2017]
- Other longevity studies of this gene
- 12
- OMIM
- 608933
- Ensembl
- ENSG00000154328
- UniProt/Swiss-Prot
- A0A024R361_HUMAN
- Entrez Gene
- 252969
- UniGene
- 293818
- HapMap
- View on HapMap
Homologs in model organisms
OGG1
Gene details
- HGNC symbol
- OGG1
- Aliases
- HMMH; MUTM; OGH1; HOGG1
- Common name
- 8-oxoguanine DNA glycosylase
- Description
- This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 601982
- Ensembl
- ENSG00000114026
- UniProt/Swiss-Prot
- E5KPM5_HUMAN
- Entrez Gene
- 4968
- UniGene
- 380271
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- ogg1
- Drosophila melanogaster
- Ogg1
- Mus musculus
- Ogg1
- Rattus norvegicus
- Ogg1
- Saccharomyces cerevisiae
- OGG1
In other databases
- CellAge
- This gene is present as OGG1
PARP1
Gene details
- HGNC symbol
- PARP1
- Aliases
- PARP; PPOL; ADPRT; ARTD1; ADPRT1; PARP-1; ADPRT; 1; pADPRT-1
- Common name
- poly(ADP-ribose) polymerase 1
- Description
- This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 15
- OMIM
- 173870
- Ensembl
- ENSG00000143799
- UniProt/Swiss-Prot
- A0A024R3T8_HUMAN
- Entrez Gene
- 142
- UniGene
- 177766
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- parp-1
- Danio rerio
- parp1
- Drosophila melanogaster
- Parp
- Mus musculus
- Parp1
- Rattus norvegicus
- Parp1
In other databases
PCNA
Gene details
- HGNC symbol
- PCNA
- Aliases
- ATLD2
- Common name
- proliferating cell nuclear antigen
- Description
- The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 176740
- Ensembl
- ENSG00000132646
- UniProt/Swiss-Prot
- PCNA_HUMAN
- Entrez Gene
- 5111
- UniGene
- 147433
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- pcn-1
- Danio rerio
- pcna
- Drosophila melanogaster
- PCNA
- Drosophila melanogaster
- CG10262
- Mus musculus
- Pcna
- Mus musculus
- Pcna-ps2
- Rattus norvegicus
- Pcna
- Saccharomyces cerevisiae
- POL30
- Schizosaccharomyces pombe
- pcn1
In other databases
PIF1
Gene details
- HGNC symbol
- PIF1
- Aliases
- PIF; C15orf20
- Common name
- PIF1 5'-to-3' DNA helicase
- Description
- This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]
- Other longevity studies of this gene
- 2
- OMIM
- 610953
- Ensembl
- ENSG00000140451
- UniProt/Swiss-Prot
- PIF1_HUMAN
- Entrez Gene
- 80119
- UniGene
- 112160
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- pif-1
- Danio rerio
- pif1
- Drosophila melanogaster
- CG3238
- Mus musculus
- Pif1
- Rattus norvegicus
- Pif1
- Saccharomyces cerevisiae
- RRM3
- Saccharomyces cerevisiae
- PIF1
- Schizosaccharomyces pombe
- pif1
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as RRM3
PINLYP
Gene details
- HGNC symbol
- PINLYP
- Aliases
- Common name
- phospholipase A2 inhibitor and LY6/PLAUR domain containing
- Description
- Other longevity studies of this gene
- 1
- OMIM
- Ensembl
- ENSG00000234465
- UniProt/Swiss-Prot
- PINLY_HUMAN
- Entrez Gene
- 390940
- UniGene
- 22049
- HapMap
- View on HapMap
Homologs in model organisms
PMS1
Gene details
- HGNC symbol
- PMS1
- Aliases
- MLH2; PMSL1; hPMS1; HNPCC3
- Common name
- PMS1 homolog 1, mismatch repair system component
- Description
- This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 5
- OMIM
- 600258
- Ensembl
- ENSG00000064933
- UniProt/Swiss-Prot
- B4DIH7_HUMAN
- Entrez Gene
- 5378
- UniGene
- 111749
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- pms-2
- Danio rerio
- pms1
- Mus musculus
- Pms1
- Rattus norvegicus
- Pms1
- Saccharomyces cerevisiae
- PMS1
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as PMS1
PMS2
Gene details
- HGNC symbol
- PMS2
- Aliases
- MLH4; PMSL2; HNPCC4; PMS2CL
- Common name
- PMS1 homolog 2, mismatch repair system component
- Description
- The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]
- Other longevity studies of this gene
- 5
- OMIM
- 600259
- Ensembl
- ENSG00000122512
- UniProt/Swiss-Prot
- B4DGM0_HUMAN
- Entrez Gene
- 5395
- UniGene
- 632637
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- pms2
- Drosophila melanogaster
- Pms2
- Mus musculus
- Gm42421
- Rattus norvegicus
- Pms2
- Saccharomyces cerevisiae
- PMS1
- Schizosaccharomyces pombe
- pms1
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as PMS1
PNKP
Gene details
- HGNC symbol
- PNKP
- Aliases
- PNK; AOA4; MCSZ; EIEE10
- Common name
- polynucleotide kinase 3'-phosphatase
- Description
- This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]
- OMIM
- 605610
- Ensembl
- ENSG00000039650
- UniProt/Swiss-Prot
- PNKP_HUMAN
- Entrez Gene
- 11284
- UniGene
- 78016
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- F21D5.5
- Danio rerio
- pnkp
- Drosophila melanogaster
- CG9601
- Mus musculus
- Pnkp
- Rattus norvegicus
- Pnkp
- Saccharomyces cerevisiae
- HNT3
- Schizosaccharomyces pombe
- pnk1
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as HNT3
POLB
Gene details
- HGNC symbol
- POLB
- Aliases
- Common name
- DNA polymerase beta
- Description
- The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]
- Other longevity studies of this gene
- 3
- OMIM
- 174760
- Ensembl
- ENSG00000070501
- UniProt/Swiss-Prot
- B7Z1W5_HUMAN
- Entrez Gene
- 5423
- UniGene
- 654484
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as POLB
POLD1
Gene details
- HGNC symbol
- POLD1
- Aliases
- CDC2; MDPL; POLD; CRCS10
- Common name
- DNA polymerase delta 1, catalytic subunit
- Description
- This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]
- Other longevity studies of this gene
- 4
- OMIM
- 174761
- Ensembl
- ENSG00000062822
- UniProt/Swiss-Prot
- A0A024R4F4_HUMAN
- Entrez Gene
- 5424
- UniGene
- 279413
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- F10C2.4
- Danio rerio
- pold1
- Drosophila melanogaster
- DNApol-delta
- Mus musculus
- Pold1
- Rattus norvegicus
- Pold1
- Saccharomyces cerevisiae
- POL3
- Schizosaccharomyces pombe
- pol3
In other databases
POLE
Gene details
- HGNC symbol
- POLE
- Aliases
- FILS; POLE1; CRCS12
- Common name
- DNA polymerase epsilon, catalytic subunit
- Description
- This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
- Other longevity studies of this gene
- 9
- OMIM
- 174762
- Ensembl
- ENSG00000177084
- UniProt/Swiss-Prot
- DPOE1_HUMAN
- Entrez Gene
- 5426
- UniGene
- 524871
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- pole-1
- Danio rerio
- pole
- Drosophila melanogaster
- DNApol-epsilon255
- Mus musculus
- Pole
- Rattus norvegicus
- Pole
- Saccharomyces cerevisiae
- POL2
- Schizosaccharomyces pombe
- pol2
In other databases
- CellAge gene expression
- This gene is present as POLE
POLG
Gene details
- HGNC symbol
- POLG
- Aliases
- PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B
- Common name
- DNA polymerase gamma, catalytic subunit
- Description
- Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 4
- OMIM
- 174763
- Ensembl
- ENSG00000140521
- UniProt/Swiss-Prot
- DPOG1_HUMAN
- Entrez Gene
- 5428
- UniGene
- 706868
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- polg-1
- Danio rerio
- polg
- Drosophila melanogaster
- tam
- Mus musculus
- Polg
- Rattus norvegicus
- Polg
- Saccharomyces cerevisiae
- MIP1
In other databases
POLRMT
Gene details
- HGNC symbol
- POLRMT
- Aliases
- APOLMT; MTRNAP; MTRPOL; h-mtRPOL
- Common name
- RNA polymerase mitochondrial
- Description
- This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 601778
- Ensembl
- ENSG00000099821
- UniProt/Swiss-Prot
- Q4G0F4_HUMAN
- Entrez Gene
- 5442
- UniGene
- 254113
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- rpom-1
- Danio rerio
- polrmt
- Drosophila melanogaster
- mtRNApol
- Mus musculus
- Polrmt
- Rattus norvegicus
- Polrmt
- Saccharomyces cerevisiae
- RPO41
- Schizosaccharomyces pombe
- rpo41
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as RPO41
POT1
Gene details
- HGNC symbol
- POT1
- Aliases
- GLM9; CMM10; HPOT1
- Common name
- protection of telomeres 1
- Description
- This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 5
- OMIM
- 606478
- Ensembl
- ENSG00000128513
- UniProt/Swiss-Prot
- A0A024R739_HUMAN
- Entrez Gene
- 25913
- UniGene
- 31968
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- pot1
- Mus musculus
- Pot1a
- Mus musculus
- Pot1b
- Rattus norvegicus
- Pot1b
- Rattus norvegicus
- Pot1
- Schizosaccharomyces pombe
- pot1
In other databases
- CellAge
- This gene is present as POT1
PPIH
Gene details
- HGNC symbol
- PPIH
- Aliases
- CYPH; CYP-20; USA-CYP; SnuCyp-20
- Common name
- peptidylprolyl isomerase H
- Description
- The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. [provided by RefSeq, Jul 2008]
- OMIM
- 606095
- Ensembl
- ENSG00000171960
- UniProt/Swiss-Prot
- PPIH_HUMAN
- Entrez Gene
- 10465
- UniGene
- 256639
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- cyn-11
- Danio rerio
- ppih
- Drosophila melanogaster
- CG17266
- Mus musculus
- Gm7879
- Rattus norvegicus
- Ppih
- Saccharomyces cerevisiae
- CPR2
- Saccharomyces cerevisiae
- CPR5
- Schizosaccharomyces pombe
- cyp3
In other databases
- CellAge gene expression
- This gene is present as PPIH
PRKDC
Gene details
- HGNC symbol
- PRKDC
- Aliases
- HYRC; p350; DNAPK; DNPK1; HYRC1; IMD26; XRCC7; DNA-PKcs
- Common name
- protein kinase, DNA-activated, catalytic polypeptide
- Description
- This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]
- Other longevity studies of this gene
- 9
- OMIM
- 600899
- Ensembl
- ENSG00000253729
- UniProt/Swiss-Prot
- PRKDC_HUMAN
- Entrez Gene
- 5591
- UniGene
- 491682
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- atl-1
- Danio rerio
- prkdc
- Mus musculus
- Prkdc
- Rattus norvegicus
- Prkdc
- Saccharomyces cerevisiae
- MEC1
In other databases
RAD23B
Gene details
- HGNC symbol
- RAD23B
- Aliases
- P58; HR23B; HHR23B
- Common name
- RAD23 homolog B, nucleotide excision repair protein
- Description
- The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]
- Other longevity studies of this gene
- 13
- OMIM
- 600062
- Ensembl
- ENSG00000119318
- UniProt/Swiss-Prot
- B7Z4W4_HUMAN
- Entrez Gene
- 5887
- UniGene
- 521640
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- rad-23
- Danio rerio
- rad23b
- Drosophila melanogaster
- Rad23
- Mus musculus
- Rad23b
- Rattus norvegicus
- Rad23b
- Saccharomyces cerevisiae
- RAD23
In other databases
RAD50
Gene details
- HGNC symbol
- RAD50
- Aliases
- NBSLD; RAD502; hRad50
- Common name
- RAD50 double strand break repair protein
- Description
- The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]
- Other longevity studies of this gene
- 2
- OMIM
- 604040
- Ensembl
- ENSG00000113522
- UniProt/Swiss-Prot
- A5D6Y3_HUMAN
- Entrez Gene
- 10111
- UniGene
- 633509
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- rad-50
- Danio rerio
- rad50
- Drosophila melanogaster
- rad50
- Saccharomyces cerevisiae
- RAD50
- Schizosaccharomyces pombe
- rad50
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as RAD50
RAD51
Gene details
- HGNC symbol
- RAD51
- Aliases
- RECA; BRCC5; FANCR; MRMV2; HRAD51; RAD51A; HsRad51; HsT16930
- Common name
- RAD51 recombinase
- Description
- The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
- Other longevity studies of this gene
- 4
- OMIM
- 179617
- Ensembl
- ENSG00000051180
- UniProt/Swiss-Prot
- RAD51_HUMAN
- Entrez Gene
- 5888
- UniGene
- 631709
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- rad51
- Drosophila melanogaster
- spn-A
- Mus musculus
- Rad51
- Rattus norvegicus
- Rad51
- Saccharomyces cerevisiae
- RAD51
- Schizosaccharomyces pombe
- rhp51
In other databases
RAD52
Gene details
- HGNC symbol
- RAD52
- Aliases
- Common name
- RAD52 homolog, DNA repair protein
- Description
- The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
- Other longevity studies of this gene
- 11
- OMIM
- 600392
- Ensembl
- ENSG00000002016
- UniProt/Swiss-Prot
- B7Z2G8_HUMAN
- Entrez Gene
- 5893
- UniGene
- 410355
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
RAD54L
Gene details
- HGNC symbol
- RAD54L
- Aliases
- HR54; hHR54; RAD54A; hRAD54
- Common name
- RAD54 like (S. cerevisiae)
- Description
- The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
- Other longevity studies of this gene
- 6
- OMIM
- 603615
- Ensembl
- ENSG00000085999
- UniProt/Swiss-Prot
- A8K996_HUMAN
- Entrez Gene
- 8438
- UniGene
- 642042
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- rad-54
- Danio rerio
- rad54l
- Drosophila melanogaster
- okr
- Mus musculus
- Rad54l
- Rattus norvegicus
- Rad54l
- Saccharomyces cerevisiae
- RAD54
- Schizosaccharomyces pombe
- rhp54
In other databases
- CellAge gene expression
- This gene is present as RAD54L
RECQL
Gene details
- HGNC symbol
- RECQL
- Aliases
- RecQ1; RECQL1
- Common name
- RecQ like helicase
- Description
- The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]
- Other longevity studies of this gene
- 16
- OMIM
- 600537
- Ensembl
- ENSG00000004700
- UniProt/Swiss-Prot
- A0A024RAV2_HUMAN
- Entrez Gene
- 5965
- UniGene
- 235069
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- K02F3.12
- Danio rerio
- recql
- Mus musculus
- Recql
- Rattus norvegicus
- Recql
- Saccharomyces cerevisiae
- SGS1
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as SGS1
RECQL4
Gene details
- HGNC symbol
- RECQL4
- Aliases
- RECQ4
- Common name
- RecQ like helicase 4
- Description
- The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
- OMIM
- 603780
- Ensembl
- ENSG00000160957
- UniProt/Swiss-Prot
- RECQ4_HUMAN
- Entrez Gene
- 9401
- UniGene
- 31442
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- RECQL4
- Drosophila melanogaster
- RecQ4
- Mus musculus
- Recql4
- Rattus norvegicus
- Recql4
- Saccharomyces cerevisiae
- SGS1
In other databases
RECQL5
Gene details
- HGNC symbol
- RECQL5
- Aliases
- RECQ5
- Common name
- RecQ like helicase 5
- Description
- The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
- OMIM
- 603781
- Ensembl
- ENSG00000108469
- UniProt/Swiss-Prot
- A0A024R8M9_HUMAN
- Entrez Gene
- 9400
- UniGene
- 632229
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- rcq-5
- Danio rerio
- recql5
- Drosophila melanogaster
- RecQ5
- Mus musculus
- Recql5
- Rattus norvegicus
- Recql5
- Saccharomyces cerevisiae
- SGS1
In other databases
RFC1
Gene details
- HGNC symbol
- RFC1
- Aliases
- A1; RFC; PO-GA; RECC1; MHCBFB; RFC140
- Common name
- replication factor C subunit 1
- Description
- This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
- Other longevity studies of this gene
- 8
- OMIM
- 102579
- Ensembl
- ENSG00000035928
- UniProt/Swiss-Prot
- RFC1_HUMAN
- Entrez Gene
- 5981
- UniGene
- 507475
- HapMap
- View on HapMap
Homologs in model organisms
RPA1
Gene details
- HGNC symbol
- RPA1
- Aliases
- HSSB; RF-A; RP-A; REPA1; RPA70; MST075
- Common name
- replication protein A1
- Description
- Other longevity studies of this gene
- 14
- OMIM
- 179835
- Ensembl
- ENSG00000132383
- UniProt/Swiss-Prot
- RFA1_HUMAN
- Entrez Gene
- 6117
- UniGene
- 461925
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- rpa-1
- Danio rerio
- rpa1
- Drosophila melanogaster
- RpA-70
- Mus musculus
- Rpa1
- Rattus norvegicus
- Rpa1
- Saccharomyces cerevisiae
- RFA1
- Schizosaccharomyces pombe
- ssb1
In other databases
SLC9A3R2
Gene details
- HGNC symbol
- SLC9A3R2
- Aliases
- SIP1; OCTS2; SIP-1; TKA-1; E3KARP; NHERF2; NHE3RF2; NHERF-2
- Common name
- SLC9A3 regulator 2
- Description
- This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
- Other longevity studies of this gene
- 1
- OMIM
- 606553
- Ensembl
- ENSG00000065054
- UniProt/Swiss-Prot
- NHRF2_HUMAN
- Entrez Gene
- 9351
- UniGene
- 440896
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- SLC9A3R2 (1 of many)
- Danio rerio
- SLC9A3R2 (1 of many)
- Drosophila melanogaster
- Sip1
- Mus musculus
- Slc9a3r2
- Rattus norvegicus
- Slc9a3r2
SPIB
Gene details
- HGNC symbol
- SPIB
- Aliases
- SPI-B
- Common name
- Spi-B transcription factor
- Description
- The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
- OMIM
- 606802
- Ensembl
- ENSG00000269404
- UniProt/Swiss-Prot
- A0A024R4I5_HUMAN
- Entrez Gene
- 6689
- UniGene
- 437905
- HapMap
- View on HapMap
Homologs in model organisms
SUPV3L1
Gene details
- HGNC symbol
- SUPV3L1
- Aliases
- SUV3
- Common name
- Suv3 like RNA helicase
- Description
- Other longevity studies of this gene
- 3
- OMIM
- 605122
- Ensembl
- ENSG00000156502
- UniProt/Swiss-Prot
- B7Z611_HUMAN
- Entrez Gene
- 6832
- UniGene
- 106469
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- C08F8.2
- Danio rerio
- supv3l1
- Drosophila melanogaster
- CG9791
- Mus musculus
- Supv3l1
- Rattus norvegicus
- Supv3l1
- Saccharomyces cerevisiae
- SUV3
- Schizosaccharomyces pombe
- suv3
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as SUV3
TERF1
Gene details
- HGNC symbol
- TERF1
- Aliases
- TRF; PIN2; TRF1; TRBF1; t-TRF1; hTRF1-AS
- Common name
- telomeric repeat binding factor 1
- Description
- This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 4
- OMIM
- 600951
- Ensembl
- ENSG00000147601
- UniProt/Swiss-Prot
- TERF1_HUMAN
- Entrez Gene
- 7013
- UniGene
- 442707
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as TERF1
TERF2
Gene details
- HGNC symbol
- TERF2
- Aliases
- TRF2; TRBF2
- Common name
- telomeric repeat binding factor 2
- Description
- This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 7
- OMIM
- 602027
- Ensembl
- ENSG00000132604
- UniProt/Swiss-Prot
- TERF2_HUMAN
- Entrez Gene
- 7014
- UniGene
- 63335
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
TERF2IP
Gene details
- HGNC symbol
- TERF2IP
- Aliases
- RAP1; DRIP5
- Common name
- TERF2 interacting protein
- Description
- The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]
- Other longevity studies of this gene
- 2
- OMIM
- 605061
- Ensembl
- ENSG00000166848
- UniProt/Swiss-Prot
- TE2IP_HUMAN
- Entrez Gene
- 54386
- UniGene
- 301419
- HapMap
- View on HapMap
Homologs in model organisms
TERT
Gene details
- HGNC symbol
- TERT
- Aliases
- TP2; TRT; CMM9; EST2; TCS1; hTRT; DKCA2; DKCB4; hEST2; PFBMFT1
- Common name
- telomerase reverse transcriptase
- Description
- Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 16
- OMIM
- 187270
- Ensembl
- ENSG00000164362
- UniProt/Swiss-Prot
- TERT_HUMAN
- Entrez Gene
- 7015
- UniGene
- 492203
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- tert
- Mus musculus
- Tert
- Rattus norvegicus
- Tert
- Saccharomyces cerevisiae
- EST2
- Schizosaccharomyces pombe
- trt1
In other databases
TFAM
Gene details
- HGNC symbol
- TFAM
- Aliases
- TCF6; MTTF1; MTTFA; TCF6L1; TCF6L2; TCF6L3; MTDPS15
- Common name
- transcription factor A, mitochondrial
- Description
- This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
- Other longevity studies of this gene
- 6
- OMIM
- 600438
- Ensembl
- ENSG00000108064
- UniProt/Swiss-Prot
- E5KSU5_HUMAN
- Entrez Gene
- 7019
- UniGene
- 594250
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as TFAM
TMEM230
Gene details
- HGNC symbol
- TMEM230
- Aliases
- HSPC274; C20orf30; dJ1116H23.2.1
- Common name
- transmembrane protein 230
- Description
- This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]
- OMIM
- 617019
- Ensembl
- ENSG00000089063
- UniProt/Swiss-Prot
- A0A087WTT2_HUMAN
- Entrez Gene
- 29058
- UniGene
- 472024
- HapMap
- View on HapMap
Homologs in model organisms
TP53
Gene details
- HGNC symbol
- TP53
- Aliases
- P53; BCC7; LFS1; TRP53
- Common name
- tumor protein p53
- Description
- This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
- Other longevity studies of this gene
- 47
- OMIM
- 191170
- Ensembl
- ENSG00000141510
- UniProt/Swiss-Prot
- A0A087WT22_HUMAN
- Entrez Gene
- 7157
- UniGene
- 437460
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- tp53
- Mus musculus
- Trp53
- Rattus norvegicus
- LOC100910954
In other databases
TSC2
Gene details
- HGNC symbol
- TSC2
- Aliases
- LAM; TSC4; PPP1R160
- Common name
- tuberous sclerosis 2
- Description
- Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 191092
- Ensembl
- ENSG00000103197
- UniProt/Swiss-Prot
- B3KWH7_HUMAN
- Entrez Gene
- 7249
- UniGene
- 90303
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- TSC2
- Drosophila melanogaster
- gig
- Mus musculus
- Tsc2
- Rattus norvegicus
- Tsc2
- Schizosaccharomyces pombe
- tsc2
In other databases
TWNK
Gene details
- HGNC symbol
- TWNK
- Aliases
- PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5; C10orf2
- Common name
- twinkle mtDNA helicase
- Description
- This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
- OMIM
- 606075
- Ensembl
- ENSG00000107815
- UniProt/Swiss-Prot
- E5KSY5_HUMAN
- Entrez Gene
- 56652
- UniGene
- 22678
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- F46G11.1
- Danio rerio
- peo1
- Drosophila melanogaster
- mtDNA-helicase
- Mus musculus
- Twnk
- Rattus norvegicus
- Peo1
UNG
Gene details
- HGNC symbol
- UNG
- Aliases
- DGU; UDG; UNG1; UNG2; HIGM4; HIGM5; UNG15
- Common name
- uracil DNA glycosylase
- Description
- This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]
- Other longevity studies of this gene
- 4
- OMIM
- 191525
- Ensembl
- ENSG00000076248
- UniProt/Swiss-Prot
- E5KTA5_HUMAN
- Entrez Gene
- 7374
- UniGene
- 191334
- HapMap
- View on HapMap
Homologs in model organisms
WRN
Gene details
- HGNC symbol
- WRN
- Aliases
- RECQ3; RECQL2; RECQL3
- Common name
- Werner syndrome RecQ like helicase
- Description
- This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 25
- OMIM
- 604611
- Ensembl
- ENSG00000165392
- UniProt/Swiss-Prot
- Q59F09_HUMAN
- Entrez Gene
- 7486
- UniGene
- 632050
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- wrn-1
- Danio rerio
- wrn
- Mus musculus
- Wrn
- Rattus norvegicus
- Wrn
- Saccharomyces cerevisiae
- SGS1
In other databases
XPA
Gene details
- HGNC symbol
- XPA
- Aliases
- XP1; XPAC
- Common name
- XPA, DNA damage recognition and repair factor
- Description
- This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
- Other longevity studies of this gene
- 7
- OMIM
- 611153
- Ensembl
- ENSG00000136936
- UniProt/Swiss-Prot
- XPA_HUMAN
- Entrez Gene
- 7507
- UniGene
- 654364
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- xpa-1
- Danio rerio
- xpa
- Drosophila melanogaster
- Xpac
- Mus musculus
- Xpa
- Rattus norvegicus
- Xpa
- Saccharomyces cerevisiae
- RAD14
- Schizosaccharomyces pombe
- rhp14
In other databases
XPC
Gene details
- HGNC symbol
- XPC
- Aliases
- XP3; RAD4; XPCC; p125
- Common name
- XPC complex subunit, DNA damage recognition and repair factor
- Description
- This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
- Other longevity studies of this gene
- 7
- OMIM
- 613208
- Ensembl
- ENSG00000154767
- UniProt/Swiss-Prot
- X5DRB1_HUMAN
- Entrez Gene
- 7508
- UniGene
- 475538
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- xpc-1
- Danio rerio
- xpc
- Drosophila melanogaster
- mus210
- Mus musculus
- Xpc
- Rattus norvegicus
- Xpc
- Saccharomyces cerevisiae
- RAD4
In other databases
XRCC1
Gene details
- HGNC symbol
- XRCC1
- Aliases
- RCC
- Common name
- X-ray repair cross complementing 1
- Description
- The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 11
- OMIM
- 194360
- Ensembl
- ENSG00000073050
- UniProt/Swiss-Prot
- B2RCY5_HUMAN
- Entrez Gene
- 7515
- UniGene
- 98493
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
XRCC4
Gene details
- HGNC symbol
- XRCC4
- Aliases
- SSMED
- Common name
- X-ray repair cross complementing 4
- Description
- The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]
- Other longevity studies of this gene
- 17
- OMIM
- 194363
- Ensembl
- ENSG00000152422
- UniProt/Swiss-Prot
- A0A024RAL0_HUMAN
- Entrez Gene
- 7518
- UniGene
- 567359
- HapMap
- View on HapMap
Homologs in model organisms
XRCC5
Gene details
- HGNC symbol
- XRCC5
- Aliases
- KU80; KUB2; Ku86; NFIV; KARP1; KARP-1
- Common name
- X-ray repair cross complementing 5
- Description
- The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 21
- OMIM
- 194364
- Ensembl
- ENSG00000079246
- UniProt/Swiss-Prot
- XRCC5_HUMAN
- Entrez Gene
- 7520
- UniGene
- 388739
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- xrcc5
- Drosophila melanogaster
- Ku80
- Mus musculus
- Xrcc5
- Rattus norvegicus
- Xrcc5
- Schizosaccharomyces pombe
- pku80
In other databases
YBX1
Gene details
- HGNC symbol
- YBX1
- Aliases
- YB1; BP-8; CSDB; DBPB; YB-1; CBF-A; CSDA2; EFI-A; NSEP1; NSEP-1; MDR-NF1
- Common name
- Y-box binding protein 1
- Description
- This gene encodes a highly conserved cold shock domain protein that has broad nucleic acid binding properties. The encoded protein functions as both a DNA and RNA binding protein and has been implicated in numerous cellular processes including regulation of transcription and translation, pre-mRNA splicing, DNA reparation and mRNA packaging. This protein is also a component of messenger ribonucleoprotein (mRNP) complexes and may have a role in microRNA processing. This protein can be secreted through non-classical pathways and functions as an extracellular mitogen. Aberrant expression of the gene is associated with cancer proliferation in numerous tissues. This gene may be a prognostic marker for poor outcome and drug resistance in certain cancers. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Sep 2015]
- Other longevity studies of this gene
- 6
- OMIM
- 154030
- Ensembl
- ENSG00000065978
- UniProt/Swiss-Prot
- YBOX1_HUMAN
- Entrez Gene
- 4904
- UniGene
- 473583
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- cey-1
- Caenorhabditis elegans
- cey-4
- Caenorhabditis elegans
- cey-3
- Caenorhabditis elegans
- cey-2
- Danio rerio
- ybx1
- Drosophila melanogaster
- yps
- Mus musculus
- Ybx1
- Rattus norvegicus
- LOC100912427
- Rattus norvegicus
- Ybx1
In other databases
- CellAge
- This gene is present as YBX1