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GABRB1
Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB1 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: 4p12 |
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Cellular Component:
chloride channel complex; dendrite; GABA-A receptor complex; GABA-ergic synapse; neuron projection; nuclear envelope; plasma membrane; postsynaptic specialization membrane; presynaptic active zone membrane; Schaffer collateral - CA1 synapse; synapse
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Molecular Function:
chloride channel activity; G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential; GABA receptor binding; GABA-A receptor activity; GABA-gated chloride ion channel activity; ligand-gated monoatomic ion channel activity; ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential; neurotransmitter receptor activity; transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential
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Biological Process:
cellular response to histamine; central nervous system neuron development; chemical synaptic transmission; chloride transmembrane transport; gamma-aminobutyric acid signaling pathway; monoatomic ion transport; nervous system process; ovulation cycle; regulation of membrane potential; regulation of postsynaptic membrane potential; regulation of presynaptic membrane potential; response to progesterone; response to toxic substance; signal transduction
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Disease: Epileptic Encephalopathy, Early Infantile, 45
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Reference #:
P18505
(UniProtKB)
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Alt. Names/Synonyms: EIEE45; GABA(A) receptor subunit beta-1; GABRB1; gamma-aminobutyric acid (GABA) A receptor, beta 1; Gamma-aminobutyric acid receptor subunit beta-1; gamma-aminobutyric acid type A receptor beta1 subunit; gamma-aminobutyric acid type A receptor subunit beta1; GBRB1
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Gene Symbols: GABRB1
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Molecular weight:
54,235 Da
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Basal Isoelectric point:
8.88
Predict pI for various phosphorylation states
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