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

Retrieve sequences for ERCC4

ORF: ORF
CDS: CDS

Homologs in model organisms

Caenorhabditis elegans: C47D12.8
Danio rerio: ercc4
Drosophila melanogaster: mei-9
Mus musculus: Ercc4
Rattus norvegicus: LOC688631
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