• Gene id: 1161

Gene Summary

• Gene Symbol: ERCC8   Gene   UCSC   Ensembl
• Aliases: CKN1, CSA, UVSS2
• Gene name: ERCC excision repair 8, CSA ubiquitin ligase complex subunit
• Alternate names: DNA excision repair protein ERCC-8, Cockayne syndrome WD-repeat protein CSA, cockayne syndrome WD repeat protein CSA, excision repair cross-complementation group 8, excision repair cross-complementing rodent repair deficiency, complementation group 8,
• Gene location: 5q12.1 (21125974: 21246621)     Exons: 15     NC_000020.11
• Gene summary(Entrez): 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 d
• OMIM: 609412

Protein Summary

• Protein general information: Q13216  
  • Name: DNA excision repair protein ERCC 8 (Cockayne syndrome WD repeat protein CSA)
  • Length: 396  
  • Mass: 44055
• Sequence:

  MLGFLSARQTGLEDPLRLRRAESTRRVLGLELNKDRDVERIHGGGINTLDIEPVEGRYMLSGGSDGVIVLYDLEN
  SSRQSYYTCKAVCSIGRDHPDVHRYSVETVQWYPHDTGMFTSSSFDKTLKVWDTNTLQTADVFNFEETVYSHHMS
  PVSTKHCLVAVGTRGPKVQLCDLKSGSCSHILQGHRQEILAVSWSPRYDYILATASADSRVKLWDVRRASGCLIT
  LDQHNGKKSQAVESANTAHNGKVNGLCFTSDGLHLLTVGTDNRMRLWNSSNGENTLVNYGKVCNNSKKGLKFTVS
  CGCSSEFVFVPYGSTIAVYTVYSGEQITMLKGHYKTVDCCVFQSNFQELYSGSRDCNILAWVPSLYEPVPDDDET
  TTKSQLNPAFEDAWSSSDEEG

• Structural information:
  • Interpro: IPR020472  IPR042238  IPR015943  IPR001680  IPR019775   IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 4A11 6FCV
  • PDBsum: 4A11 6FCV
  • DIP: 291
  • STRING: ENSP00000265038
• Other Databases: GeneCards:  ERCC8  Malacards:  ERCC8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004842	ubiquitin-protein transferase activity	IBA	contributes to
GO:0000109	nucleotide-excision repair complex	IBA	cellular component
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	IBA	biological process
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IBA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0045739	positive regulation of DNA repair	IBA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0000012	single strand break repair	IDA	biological process
GO:0097680	double-strand break repair via classical nonhomologous end joining	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006283	transcription-coupled nucleotide-excision repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0006283	transcription-coupled nucleotide-excision repair	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0009411	response to UV	IEA	biological process
GO:0010996	response to auditory stimulus	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0010165	response to X-ray	IEA	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0051865	protein autoubiquitination	IDA	biological process
GO:0009411	response to UV	IDA	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0008094	DNA-dependent ATPase activity	IDA	NOT|molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	contributes to
GO:0003678	DNA helicase activity	IDA	NOT|molecular function
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0006979	response to oxidative stress	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006289	nucleotide-excision repair	IMP	biological process
GO:0006979	response to oxidative stress	IMP	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis
hsa03420	Nucleotide excision repair

Diseases

Associated diseases	References
Disorders of nucleotide excision repair	KEGG:H00403
Cockayne syndrome	KEGG:H00076
Disorders of nucleotide excision repair	KEGG:H00403
UV-sensitive syndrome	KEGG:H02131
Cockayne syndrome	KEGG:H00076
Cockayne syndrome	PMID:21108394
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)