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
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
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
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