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Description for Protein ERCC8

excision repair cross-complementing rodent repair deficiency, complementation group 8
10 total interacting proteins; 7 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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] (PubMed Links)
Domains and Motifs:
  • WD40: WD40 repeats
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10570
    KEGG - Pathway(s):
    hsa03420; hsa04120
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Excision repair cross-complementing rodent repair deficiency, complementation group 8 isoform 1; Excision repair cross-complementing rodent repair deficiency, complementation group 8 isoform 2; Excision repair cross-complementing rodent repair deficiency, complementation group 8 isoform 3; CSA; CKN1; Cockayne syndrome WD repeat protein CSA; Excision repair cross complementing, group 8
    Approved Symbol:
    ERCC8
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 8
    Human (de-) phosphorylation sites: 8; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Cockayne syndrome, type A(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07523 Entrez Gene ID: 1161 OMIM ID: 609412 Swissprot Accession: Q13216;