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GABRB3
Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel. The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer. The alpha1/beta3/gamma2 receptor exhibits synaptogenic activity. The alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity. Functions also as histamine receptor and mediates cellular responses to histamine. Plays an important role in somatosensation and in the production of antinociception. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB3 sub-subfamily. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Channel, chloride; Channel, ligand-gated; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel |
| Chromosomal Location of human Ortholog: 15q12 |
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Cellular Component:
chloride channel complex; cytoplasmic vesicle membrane; GABA-A receptor complex; neuron projection; plasma membrane; postsynaptic membrane; synapse
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Molecular Function:
chloride channel activity; GABA-A receptor activity; GABA-gated chloride ion channel activity; identical protein binding; neurotransmitter receptor activity
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Biological Process:
cellular response to histamine; chemical synaptic transmission; chloride transmembrane transport; gamma-aminobutyric acid signaling pathway; inhibitory synapse assembly; nervous system process; regulation of membrane potential; roof of mouth development; signal transduction; synaptic transmission, GABAergic
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Disease: Epilepsy, Childhood Absence, Susceptibility To, 5; Epileptic Encephalopathy, Early Infantile, 43
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Reference #:
P28472
(UniProtKB)
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Alt. Names/Synonyms: ECA5; EIEE43; GABA(A) receptor beta-3 subunit; GABA(A) receptor subunit beta-3; GABA-A receptor beta-3 subunit; GABA-alpha receptor beta-2 subunit; GABAA receptor beta-3 subunit; GABRB3; gamma-aminobutyric acid (GABA) A receptor, beta 3; gamma-aminobutyric acid A receptor beta 3; Gamma-aminobutyric acid receptor subunit beta-3; gamma-aminobutyric acid type A receptor beta3 subunit; gamma-aminobutyric acid type A receptor subunit beta3; GBRB3; MGC9051
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Gene Symbols: GABRB3
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Molecular weight:
54,116 Da
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Basal Isoelectric point:
9.21
Predict pI for various phosphorylation states
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