GenAge entry for ERCC8 (Homo sapiens)

Entry selected based on evidence directly linking the gene product to ageing in humans

Gene name (HAGRID: 12)

HGNC symbol: ERCC8
Aliases: CSA; CKN1
Common name: excision repair cross-complementation group 8

Potential relevance to the human ageing process

Main reason for selection: Entry selected based on evidence directly linking the gene product to ageing in humans
Description: Cockayne syndrome type A is a segmental progeroid syndrome caused by mutations in ERCC8 in which patients develop signs of ageing and age-related pathologies at early ages. It is unclear, however, whether it is indeed accelerated ageing [55]. The ERCC8 gene appears to be involved in transcription and maybe in DNA repair [15]. If indeed Cockayne syndrome is premature ageing, then ERCC8 likely plays a role in human ageing.

Cytogenetic information

Cytogenetic band: 5q12.1
Location: 60,873,832 bp to 60,945,078 bp
Orientation: Minus strand

Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology

Process:

GO:0000209; protein polyubiquitination
GO:0006283; transcription-coupled nucleotide-excision repair
GO:0006289; nucleotide-excision repair
GO:0006974; cellular response to DNA damage stimulus
GO:0006979; response to oxidative stress
GO:0009411; response to UV
GO:0010165; response to X-ray
GO:0043161; proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0051865; protein autoubiquitination

Cellular component:

GO:0000109; nucleotide-excision repair complex
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0016363; nuclear matrix
GO:0031464; Cul4A-RING E3 ubiquitin ligase complex
GO:0043234; protein complex

Function:

GO:0003678; DNA helicase activity
GO:0004842; ubiquitin-protein transferase activity
GO:0005515; protein binding
GO:0008094; DNA-dependent ATPase activity
GO:0032403; protein complex binding

Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge: TP53, VCP, TOP1, ERCC6, EP300, GTF2H2, PCNA, MDM2
STRING interaction network

Retrieve sequences for ERCC8

Promoter: Promoter
ORF: ORF
CDS: CDS

Homologs in model organisms

Danio rerio: ercc8
Mus musculus: Ercc8
Rattus norvegicus: Ercc8
Schizosaccharomyces pombe: ckn1

In other databases

LongevityMap

This gene is present as ERCC8