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Description for Protein ERCC6

excision repair cross-complementing rodent repair deficiency, complementation group 6
11 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The protein has ATP-stimulated ATPase activity; there are contradictory publications reporting presence or absence of helicase activity. The protein appears to interact with several transcription and excision repair proteins, and may promote complex formation at repair sites. Mutations in this gene result in Cockayne syndrome type B. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • DEXDc: DEAD-like helicases superfamily
  • HELIC: helicase superfamily c-terminal domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10841
    KEGG - Pathway(s):
    hsa03420
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    ARMD5; DNA excision repair protein ERCC-6; Cockayne syndrome group B protein; ATP-dependent helicase ERCC6; CSB; RAD26; Cockayne syndrome protein CSB; CKN2; COFS
    Approved Symbol:
    ERCC6
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 16
    Human (de-) phosphorylation sites: 16; 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:

  • Cerebrooculofacioskeletal syndrome(Pd);
  • Cockayne syndrome, type B(Pd);
  • Macular degeneration, age-related, 5(Pd);
  • UV-sensitive syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00596 Entrez Gene ID: 2074 OMIM ID: 609413 Swissprot Accession: Q03468;