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Description for Protein CC2D1A

coiled-coil and C2 domain containing 1A
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3. (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • C2: Protein kinase C conserved region 2 (CalB)
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Putative NF-kappa-B-activating protein 023N; FLJ41160; FLJ20241; FREUD-1; MRT3; Five repressor element under dual repression-binding protein 1; FRE under dual repression-binding protein 1
    Approved Symbol:
    CC2D1A
    (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:

  • Mental retardation, autosomal recessive 3(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 08616 Entrez Gene ID: 54862 OMIM ID: 610055 Swissprot Accession: Q6P1N0;