GenAge entry for ERCC1 (Homo sapiens)

Entry selected based on evidence directly linking the gene product to ageing in a mammalian model organism

Gene name (HAGRID: 149)

HGNC symbol
ERCC1 
Aliases
RAD10 
Common name
excision repair cross-complementation group 1 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence directly linking the gene product to ageing in a mammalian model organism
Description

Due to its role in DNA repair in association with the other ERCC proteins [733], it is possible that ERCC1 plays a role in human ageing.

Disruption of ERCC1 in mice results in a very short lifespan with animals dying by about four weeks of age, accompanied by mutation accumulation, decreased cellular proliferation and an increase in apoptotic cells, and signs of premature ageing in the liver and kidney [38]. Hypomorphic ERCC1 mice (hemizygous for a single truncated Ercc1 allele, encoding protein lacking seven amino acids), are also much smaller, have a decreased median and maximum lifespan (though much less severe than the ERCC1 knockout mutants) without any neoplasms observed, and display symptoms of premature aging, including decline in weight of both whole body and various organs, numerous ageing-characteristic histopathological lesions, and immune parameters [3485]. Subjecting ERCC1 knockout mice to dietary restriction triples their median and maximal remaining lifespans and reduces accelerating aging. ERCC1 knockout mice undergoing dietary restriction retain 50% more neurons and maintain full motor function. These findings suggest that dietary restriction preserves genome function by alleviating DNA damage [4361].

In worms, ERCC1-mutants do not display a decreased lifespan. Moreover, ERCC1 deficiency further increases lifespan of daf-2 long-lived mutants [3645]. ERCC1, however, has so far not been associated with any human diseases or with human ageing.

Cytogenetic information

Cytogenetic band
19q13.32
Location
45,413,434 bp to 45,423,562 bp
Orientation
Minus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000710; meiotic mismatch repair
GO:0000720; pyrimidine dimer repair by nucleotide-excision repair
GO:0001302; replicative cell aging
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:0006302; double-strand break repair
GO:0006310; DNA recombination
And 24 more GO terms
Cellular component: GO:0000109; nucleotide-excision repair complex
GO:0000110; nucleotide-excision repair factor 1 complex
GO:0000784; nuclear chromosome, telomeric region
GO:0005654; nucleoplasm
GO:0005669; transcription factor TFIID complex
GO:0005737; cytoplasm
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:0005515; protein binding
GO:0008022; protein C-terminus binding
GO:0019904; protein domain specific binding
GO:0043566; structure-specific DNA binding
Show all GO terms

Protein interactions and network

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

Retrieve sequences for ERCC1

Promoter
Promoter
ORF
ORF
CDS
CDS

Homologs in model organisms

Caenorhabditis elegans
ercc-1
Danio rerio
ercc1
Drosophila melanogaster
Ercc1
Mus musculus
Ercc1
Rattus norvegicus
Ercc1
Schizosaccharomyces pombe
swi10

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Ercc1
LongevityMap
  • This gene is present as ERCC1

Selected references

External links

EPD
HS_ERCC1
ORF Accession
NM_202001
CDS Accession
NP_973730
OMIM
126380
HPRD
00125
Ensembl
ERCC1
UniProt/Swiss-Prot
ERCC1_HUMAN
GeneCards
ERCC1
Entrez Gene
2067
UniGene
435981
GenAtlas
ERCC1
Internet
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