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Description for Protein CHD7

chromodomain helicase DNA binding protein 7
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HELIC: helicase superfamily c-terminal domain
  • SANT: SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
  • BRK: domain in transcription and CHROMO domain helicases
  • CHROMO: Chromatin organization modifier domain
  • DEXDc: DEAD-like helicases superfamily
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    KIAA1416; FLJ20357; FLJ20361
    Approved Symbol:
    CHD7
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 33
    Human (de-) phosphorylation sites: 33; 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:

  • Charge syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 10595 Entrez Gene ID: 55636 OMIM ID: 608892 Swissprot Accession: Q9P2D1; Q6ZWF9;