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
Protein-Protein network diagram for ERCC8

Retrieve sequences for ERCC8

Promoter
Promoter
ORF
ORF
CDS
CDS

Homologs in model organisms

Danio rerio
ercc8
Mus musculus
Ercc8
Rattus norvegicus
Ercc8
Saccharomyces cerevisiae
RAD28
Schizosaccharomyces pombe
ckn1

In other databases

LongevityMap
  • This gene is present as ERCC8

Selected references

External links

EPD
HS_CKN1
ORF Accession
NM_000082
CDS Accession
NP_000073
OMIM
609412
HPRD
07523
Ensembl
ERCC8
UniProt/Swiss-Prot
ERCC8_HUMAN
GeneCards
ERCC8
Entrez Gene
1161
GenAtlas
ERCC8
Internet
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