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Description for Protein GABRD

gamma-aminobutyric acid (GABA) A receptor, delta
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [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:
    K05184
    KEGG - Pathway(s):
    hsa04080
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    GABA(A) receptor delta polypeptide
    Approved Symbol:
    GABRD
    (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);
  • Fludiazepam(db);
  • Flurazepam(db);
  • Halazepam(db);
  • Ketazolam(db);
  • Lorazepam(db);
  • Midazolam(db);
  • Nitrazepam(db);
  • Oxazepam(db);
  • Prazepam(db);
  • Quazepam(db);
  • Temazepam(db);
  • Triazolam(db)

    Associated Genetic Diseases:

  • Generalized epilepsy with febrile seizures plus, type 5, susceptibility to(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 08842 Entrez Gene ID: 2563 OMIM ID: 137163 Swissprot Accession: O14764; A8K496;