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Description for Protein GABRA1

gamma-aminobutyric acid (GABA) A receptor, alpha 1
4 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 gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05175
    KEGG - Pathway(s):
    hsa04080
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Gamma-aminobutyric acid receptor, alpha-1
    Approved Symbol:
    GABRA1
    (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);
  • Amobarbital(db);
  • Amoxapine(db);
  • Aprobarbital(db);
  • Barbital(db);
  • Barbituric acid derivative(db);
  • Bromazepam(db);
  • Butabarbital(db);
  • Butalbital(db);
  • Butethal(db);
  • Chlordiazepoxide(db);
  • Cinolazepam(db);
  • Clobazam(db);
  • Clonazepam(db);
  • Clorazepate(db);
  • Clotiazepam(db);
  • Desflurane(db);
  • Diazepam(db);
  • Dihydroergotoxine(db);
  • Dihydroquinidine barbiturate(db);
  • Enflurane(db);
  • Estazolam(db);
  • Eszopiclone(db);
  • Ethanol(db);
  • Ethchlorvynol(db);
  • Etomidate(db);
  • Fludiazepam(db);
  • Flumazenil(db);
  • Flurazepam(db);
  • Ginkgo biloba(db);
  • Glutethimide(db);
  • Halazepam(db);
  • Halothane(db);
  • Heptabarbital(db);
  • Hexobarbital(db);
  • Isoflurane(db);
  • Ketazolam(db);
  • Lorazepam(db);
  • Meprobamate(db);
  • Metharbital(db);
  • Methohexital(db);
  • Methoxyflurane(db);
  • Methylphenobarbital(db);
  • Methyprylon(db);
  • Midazolam(db);
  • Nitrazepam(db);
  • Oxazepam(db);
  • Pentobarbital(db);
  • Phenobarbital(db);
  • Picrotoxin(db);
  • Prazepam(db);
  • Primidone(db);
  • Progabide(db);
  • Quazepam(db);
  • Quinidine barbiturate(db);
  • Secobarbital(db);
  • Sevoflurane(db);
  • Talbutal(db);
  • Temazepam(db);
  • Thiamylal(db);
  • Thiopental(db);
  • Topiramate(db);
  • Triazolam(db);
  • Zaleplon(db);
  • Zolpidem(db);
  • Zopiclone(db)

    Associated Genetic Diseases:

  • Epilepsy, juvenile myoclonic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 7 : 4
  • Isoform 6 : 4
  • Isoform 5 : 4
  • Isoform 4 : 4
  • Isoform 3 : 4
  • Isoform 2 : 4
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 00662 Entrez Gene ID: 2554 OMIM ID: 137160 Swissprot Accession: P14867; A8K177;