GABRB3 - gamma-aminobutyric acid (GABA) A receptor, beta 3
Entrez Gene Name: gamma-aminobutyric acid (GABA) A receptor, beta 3
Entrez GeneID: Human(2562)
, Mouse(14402), Rat(24922)
, Mouse(14402), Rat(24922) Synonyms: A230092K12Rik, AW049585, beta3, BETA3 SUBUNIT OF GABAA RECEPTORS, Cp1, ECA5, GABA A RECEPTOR B3, GABA A RECEPTOR BETA-3, Gaba A receptor subunit beta 3, GABRB3, MGC9051
Gene Summary
- Human (2562): 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 isoforms with distinct signal peptides have been described. [provided by RefSeq]
- Rat (24922): beta 3 subunit, with alpha subunits forms active GABA-A receptors [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Role in cell:
|
Biological Process
gamma-aminobutyric acid signaling pathway, ion transport, signal transduction, synaptic transmission, GABAergic, transport
Cellular Components
cell junction, integral to membrane, integral to plasma membrane, membrane, plasma membrane, postsynaptic membrane, synapse, terminal button
Literature References
- 12604672Robinson RT, Drafts BC, Fisher JL. Fluoxetine increases GABA(A) receptor activity through a novel modulatory site.J Pharmacol Exp Ther 2003 Mar;304(3):978-84
- 10633039Huang Q, He X, Ma C, Liu R, Yu S, Dayer CA, Wenger GR, McKernan R, Cook JM. Pharmacophore/receptor models for GABA(A)/BzR subtypes (alpha1beta3gamma2, alpha5beta3gamma2, and alpha6beta3gamma2) via a comprehensive ligand-mapping approach.J Med Chem 2000 01 13;43(1):71-95
- 15615769Samaco RC, Hogart A, LaSalle JM. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.Hum Mol Genet 2005 Feb 15;14(4):483-92 View 337 categorized literature findings and their references in IPA
Molecular Functions
chloride channel activity, chloride ion binding, extracellular ligand-gated ion channel activity, GABA-A receptor activity, ion channel activity, neurotransmitter receptor activity, protein binding, receptor activity
Protein Domains
chloride channel, extracellular domain, extracellular ligand binding domain, GABA-A receptor, intracellular domain, ion channel, neurotransmitter-gated ion channel ligand binding domain, protein binding
Subcellular Locations
cell surface, cellular membrane, intracellular space, membrane fraction, plasma membrane
