Version 5.4
Homo sapiens Gene: ERCC8
Summary
InnateDB Gene IDBG-22959.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ERCC8
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 8
Synonyms CKN1; CSA; UVSS2
Species Homo sapiens
Ensembl Gene ENSG00000049167
Encoded Proteins
IDBP-22961
excision repair cross-complementing rodent repair deficiency, complementation group 8
IDBP-22963
excision repair cross-complementing rodent repair deficiency, complementation group 8
IDBP-368358
excision repair cross-complementing rodent repair deficiency, complementation group 8
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. [provided by RefSeq, Jul 2008]
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:60873831-60945073
Strand Reverse strand
Band q12.1
Transcripts
ENST00000265038 ENSP00000265038
ENST00000381118 ENSP00000370510
ENST00000439176 ENSP00000408344
ENST00000462279
ENST00000495985
ENST00000484330
ENST00000497892
ENST00000477893
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated
Total 43 [view]
Protein-Protein 42 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 10 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0032403 protein complex binding
Biological Process
GO:0000209 protein polyubiquitination
GO:0006281 DNA repair
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:0045739 positive regulation of DNA repair
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021694
View Gene Order
ENSBTAG00000021606
Not yet available
Pathways
NETPATH
REACTOME
REACT_1941
Formation of transcription-coupled NER (TC-NER) repair complex pathway
REACT_2222
Dual incision reaction in TC-NER pathway
REACT_1628
Transcription-coupled NER (TC-NER) pathway
REACT_1826
Nucleotide Excision Repair pathway
REACT_216
DNA Repair pathway
KEGG
hsa04120
Ubiquitin mediated proteolysis pathway
hsa03420
Nucleotide excision repair pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000082 NM_001007233
HUGO
OMIM
CCDS CCDS3978
HPRD 07523
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca