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Description for Protein GABRB3

gamma-aminobutyric acid (GABA) A receptor, beta 3
7 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05183
    KEGG - Pathway(s):
    hsa04080
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Gamma-aminobutyric acid (GABA) A receptor, beta 3 isoform 2 precursor; Gaba-A receptor, beta-3 polypeptide; Beta3 subunit of gamma aminobutyric acidA receptor; GABAA receptor beta 3 subunit gene; Gamma-aminobutyric acid-type A receptor beta 3 subunit; Beta 3 subunit of the gamma-aminobutyrate Type A; Gabarb3; MGC9051; Gamma-aminobutyric acid (GABA) A receptor, beta 3 isoform 1 precursor
    Approved Symbol:
    GABRB3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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):

  • Adinazolam(db);
  • Alprazolam(db);
  • Bromazepam(db);
  • Chlordiazepoxide(db);
  • Cinolazepam(db);
  • Clobazam(db);
  • Clonazepam(db);
  • Clorazepate(db);
  • Clotiazepam(db);
  • Diazepam(db);
  • Estazolam(db);
  • Ethchlorvynol(db);
  • Fludiazepam(db);
  • Flurazepam(db);
  • Fospropofol(db);
  • Halazepam(db);
  • Ivermectin(db);
  • Lorazepam(db);
  • Midazolam(db);
  • Nitrazepam(db);
  • Oxazepam(db);
  • Piperazine(db);
  • Prazepam(db);
  • Propofol(db);
  • Quazepam(db);
  • Temazepam(db);
  • Triazolam(db)

    Associated Genetic Diseases:

  • Insomnia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 4
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 08844 Entrez Gene ID: 2562 OMIM ID: 137192 Swissprot Accession: P28472;