GenAge entry for ERCC8 (Homo sapiens)

Selected based on direct observations linking human ageing to ERCC8

Gene name (HAGRID: 0012)
HGNC symbol	ERCC8
Aliases	CKN1; CSA
Common name	excision repair cross-complementing rodent repair deficiency, 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 [0055]. The ERCC8 gene appears to be involved in transcription and maybe in DNA repair [0015]. If indeed Cockayne syndrome is premature ageing, then ERCC8 likely plays a role in human ageing.
Cytogenetic information
Cytogenetic band	5q12.1
Location	60,205,415 bp to 60,276,628 bp
Orientation	Minus strand
Display region using the UCSC Genome Browser
Protein information
Function	DNA repair, other
Cellular location	nucleus
Expression	ubiquitous
Gene Ontology	GO:0006350; transcription; Process GO:0006355; regulation of transcription, DNA-dependent; Process GO:0007605; sensory perception of sound; Process
Protein-protein interactions
Interacting proteins	ERCC6, GTF2H2.
Display interactions using the IGD
Retrieve sequences for ERCC8
Promoter	Promoter
ORF	ORF
CDS	CDS
Homologues in model organisms
C. lupus familiaris	ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)
M. musculus	Ercc8 (excision repaiross-complementing rodent repair deficiency, complementation group 8)
R. norvegicus	Ercc8_predicted (excision repair cross-complementing rodent repair deficiency, complementation group 8 (predicted))
G. gallus	ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)
D. rerio	ercc8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)
D. rerio	LOC100004399 (similar to Excision repair cross-complementing rodent repair deficiency, complementation group 8)
S. pombe	SPBC577.09 (ERCC-8 homolog (predicted))
A. thaliana	AT1G19750 (transducin family protein / WD-40 repeat family protein)
HomoloGene (62)
Selected references
[1139] Kipling et al. (2004), What can progeroid syndromes tell us about human aging?, PubMed [0055] Martin and Oshima (2000), Lessons from human progeroid syndromes, PubMed [0237] de Boer and Hoeijmakers (2000), Nucleotide excision repair and human syndromes, PubMed [0238] Pesce and Rothe (1996), The premature aging syndromes, PubMed [0571] Habraken et al. (1996), Transcription factor TFIIH and DNA endonuclease Rad2 constitute yeast nucleotide excision repair factor 3: implications for nucleotide excision repair and Cockayne syndrome, PubMed [0015] Henning et al. (1995), The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH, PubMed [0239] Kenyon et al. (1993), A C. elegans mutant that lives twice as long as wild type, PubMed [1758] Nance and Berry (1992), Cockayne syndrome: review of 140 cases, PubMed [0653] Melaragno and Smith (1990), Sister chromatid exchange and proliferation pattern in lymphocytes from newborns, elderly subjects and in premature aging syndromes, PubMed [0151] Martin (1978), Genetic syndromes in man with potential relevance to the pathobiology of aging, PubMed Display PubMed References Associated with this GeneID; Search PubMed, Search Scirus, or Search Google Scholar
External links
EPD	HS_CKN1
ORF Accession	NM_000082
CDS Accession	NP_000073
OMIM	609412
HPRD	07523
Ensembl	ERCC8
Swiss-Prot	ERCC8_HUMAN
GeneCards	ERCC8
Entrez Gene	1161
UniGene	435237
GenAtlas	ERCC8
Internet	Search Google

GenAge database at the Human Ageing Genomic Resources.

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