GenAge entry for ERCC4 (Homo sapiens)

Gene name (HAGRID: 261)

HGNC symbol
ERCC4 
Aliases
RAD1; FANCQ; XPF 
Common name
excision repair cross-complementation group 4 

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

ERCC4, together with ERCC1, is involved in the repair of DNA damage. One patient with a severe mutation in ERCC4 displayed progeroid symptoms. ERCC4-ERCC1-deficient mice show developmental retardation, growth arrest after two weeks and death at four weeks. They also have increased cell death and reduced GH1 and IGF1 signalling as well as some signs of premature ageing [1855]. Mutations in ERCC4 have also been associated with xeroderma pigmentosum [1891]. In worms, XPF-1 (an ortholog of ERCC4) mutants do not display a decreased lifespan. Moreover, XPF-1 deficiency further increases lifespan of daf-2 long-lived mutants [3645]. Although it is possible that ERCC4 plays some role in human ageing, with only patient exhibiting progeroid symptoms further studies are necessary to establish the role of this genes in human ageing.

Cytogenetic information

Cytogenetic band
16p13.12
Location
13,920,157 bp to 13,952,348 bp
Orientation
Plus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000712; resolution of meiotic recombination intermediates
GO:0000722; telomere maintenance via recombination
GO:0000723; telomere maintenance
GO:0000724; double-strand break repair via homologous recombination
GO:0006281; DNA repair
GO:0006283; transcription-coupled nucleotide-excision repair
GO:0006289; nucleotide-excision repair
GO:0006293; nucleotide-excision repair, preincision complex stabilization
GO:0006295; nucleotide-excision repair, DNA incision, 3'-to lesion
GO:0006296; nucleotide-excision repair, DNA incision, 5'-to lesion
GO:0006303; double-strand break repair via nonhomologous end joining
And 13 more GO terms
Cellular component: GO:0000109; nucleotide-excision repair complex
GO:0000110; nucleotide-excision repair factor 1 complex
GO:0000781; chromosome, telomeric region
GO:0000784; nuclear chromosome, telomeric region
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005669; transcription factor TFIID complex
GO:0070522; ERCC4-ERCC1 complex
Function: GO:0000014; single-stranded DNA endodeoxyribonuclease activity
GO:0001094; TFIID-class transcription factor binding
GO:0003684; damaged DNA binding
GO:0003697; single-stranded DNA binding
GO:0004520; endodeoxyribonuclease activity
GO:0005515; protein binding
GO:0008022; protein C-terminus binding
GO:0010521; telomerase inhibitor activity
GO:0047485; protein N-terminus binding
GO:1990599; 3' overhang single-stranded DNA endodeoxyribonuclease activity
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
ERCC6, XPA, ERCC1
STRING interaction network
Protein-Protein network diagram for ERCC4

Retrieve sequences for ERCC4

ORF
ORF
CDS
CDS

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

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Ercc4
LongevityMap
  • This gene is present as ERCC4

Selected references

External links

EPD
ORF Accession
NM_005236
CDS Accession
NP_005227
OMIM
133520
HPRD
00594
Ensembl
ERCC4
UniProt/Swiss-Prot
XPF_HUMAN
GeneCards
ERCC4
Entrez Gene
2072
GenAtlas
ERCC4
Internet
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