GenAge entry for XPA (Homo sapiens)

Gene name (HAGRID: 126)

HGNC symbol
XPA 
Aliases
XPAC; XP1 
Common name
xeroderma pigmentosum, complementation group A 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
Description

XPA is primarily involved in DNA repair. In mice, mutations in both XPA and ERCC2 result in a phenotype resembling accelerated ageing with animals living about 5 months, but because mutations in ERCC2 alone also result in accelerated ageing, it is not clear to what extent the XPA gene contributes to the accelerated ageing phenotype [14]. In fact, mice lacking XPA do not appear to age faster [494]. Mice mutant for XPA and ERCC6 die before weaning and display some signs of premature ageing included stunted growth, neurological dysfunction, retinal degeneration, cachexia, and kyphosis [1934]. In humans, XPA has been associated with cancer [396], though it is possible XPA also plays some role in human ageing.

Cytogenetic information

Cytogenetic band
9q22.3
Location
97,674,909 bp to 97,697,409 bp
Orientation
Minus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000715; nucleotide-excision repair, DNA damage recognition
GO:0000717; nucleotide-excision repair, DNA duplex unwinding
GO:0006283; transcription-coupled nucleotide-excision repair
GO:0006284; base-excision repair
GO:0006293; nucleotide-excision repair, preincision complex stabilization
GO:0006294; nucleotide-excision repair, preincision complex assembly
GO:0006295; nucleotide-excision repair, DNA incision, 3'-to lesion
GO:0006296; nucleotide-excision repair, DNA incision, 5'-to lesion
GO:0006979; response to oxidative stress
GO:0008630; intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009636; response to toxic substance
And 7 more GO terms
Cellular component: GO:0000110; nucleotide-excision repair factor 1 complex
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005662; DNA replication factor A complex
GO:0005737; cytoplasm
GO:0005794; Golgi apparatus
GO:0045171; intercellular bridge
Function: GO:0003684; damaged DNA binding
GO:0005515; protein binding
GO:0019904; protein domain specific binding
GO:0042803; protein homodimerization activity
GO:0046872; metal ion binding
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
ATM, RPA1, ERCC6, EP300, PRKDC, ERCC1, HMGB1, ATR, ERCC4
STRING interaction network
Protein-Protein network diagram for XPA

Retrieve sequences for XPA

ORF
ORF
CDS
CDS

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

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Xpa
LongevityMap
  • This gene is present as XPA

Selected references

External links

EPD
ORF Accession
NM_000380
CDS Accession
NP_000371
OMIM
278700
HPRD
02045
Ensembl
XPA
UniProt/Swiss-Prot
XPA_HUMAN
GeneCards
XPA
Entrez Gene
7507
GenAtlas
XPA
Internet
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