Gamma-aminobutyric acid receptor subunit beta-1
Also known as: GABRB1
Function
Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain. GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain one or two GABA active binding sites located at the alpha and beta subunit interfaces, depending on subunit composition (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient. Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission. Beta-containing GABAARs can simultaneously bind GABA and histamine where histamine binds at the interface of two neighboring beta subunits, which may be involved in the regulation of sleep and wakefulness (By similarity).
Classification
- Family (Pfam)
- PF02931 Neur_chan_LBD, PF02932 Neur_chan_memb
- InterPro
- GABAA/Glycine_rcpt, GABAAb_rcpt, Neur_chan_lig-bd, Neur_chan_lig-bd_sf, Neur_channel, Neuro-gated_channel_TM_sf, Neuro_actylchol_rec, Neurotrans-gated_channel_TM, Neurotransmitter_ion_chnl_CS
- Functional cluster
- Mixed Regulatory & Membrane Proteins
Experimental structures · PDB · 3
A predicted model is available from AlphaFold.
Gene Ontology · 28
- GO:0034707 chloride channel complex
- GO:0030425 dendrite
- GO:1902711 GABA-A receptor complex
- GO:0098982 GABA-ergic synapse
- GO:0005635 nuclear envelope
- GO:0005886 plasma membrane
- GO:0099634 postsynaptic specialization membrane
- GO:0048787 presynaptic active zone membrane
- GO:0098685 Schaffer collateral - CA1 synapse
- GO:0150047 G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential
- GO:0050811 GABA receptor binding
- GO:0004890 GABA-A receptor activity
- GO:0022851 GABA-gated chloride ion channel activity
- GO:0015276 ligand-gated monoatomic ion channel activity
- GO:0099507 ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential
- GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential
- GO:0071420 cellular response to histamine
- GO:0021954 central nervous system neuron development
- GO:1902476 chloride transmembrane transport
- GO:0160001 extrasynaptic signaling via GABA
- GO:0007214 gamma-aminobutyric acid signaling pathway
- GO:0006811 monoatomic ion transport
- GO:0032229 negative regulation of synaptic transmission, GABAergic
- GO:0042698 ovulation cycle
- GO:0032570 response to progesterone
- GO:0009636 response to toxic substance
- GO:0007165 signal transduction
- GO:0051932 synaptic transmission, GABAergic
Disease associations
- developmental and epileptic encephalopathy, 45 MONDO:0014942
Drugs targeting this protein · 69
- GLUTETHIMIDE positive modulator
- DIAZEPAM positive allosteric modulator
- MIDAZOLAM HYDROCHLORIDE positive allosteric modulator
- QUAZEPAM positive allosteric modulator
- SEVOFLURANE positive allosteric modulator
- CHLORDIAZEPOXIDE HYDROCHLORIDE positive allosteric modulator
- DESFLURANE positive allosteric modulator
- TRICLOFOS SODIUM positive modulator
- METHYPRYLON positive allosteric modulator
- TALBUTAL positive allosteric modulator
- SECOBARBITAL SODIUM positive allosteric modulator
- BUTABARBITAL SODIUM positive allosteric modulator
- THIAMYLAL SODIUM positive allosteric modulator
- ISOFLURANE positive allosteric modulator
- ENFLURANE positive modulator
- FLUNITRAZEPAM positive allosteric modulator
- METHOXYFLURANE positive modulator
- ZOPICLONE positive allosteric modulator
- ZALEPLON positive allosteric modulator
- ESZOPICLONE positive allosteric modulator
- GANAXOLONE positive allosteric modulator
- CLOTIAZEPAM positive allosteric modulator
- ACAMPROSATE CALCIUM positive modulator
- BREXANOLONE positive allosteric modulator
- CLORAZEPATE DIPOTASSIUM positive allosteric modulator
- ADIPIPLON partial agonist
- PAGOCLONE positive allosteric modulator
- TETRAZEPAM positive allosteric modulator
- ETIFOXINE antagonist
- METHAQUALONE HYDROCHLORIDE positive allosteric modulator
- RESEQUINIL inverse agonist
- TOPIRAMATE positive modulator
- METHAQUALONE positive allosteric modulator
- ESTAZOLAM positive allosteric modulator
- METHOHEXITAL SODIUM positive allosteric modulator
- CLOMETHIAZOLE positive allosteric modulator
- DARIGABAT agonist
- FLURAZEPAM HYDROCHLORIDE positive allosteric modulator
- ZOLPIDEM TARTRATE positive allosteric modulator
- CENOBAMATE positive allosteric modulator
- FLUMAZENIL allosteric antagonist
- CIPEPOFOL agonist
- ZURANOLONE positive allosteric modulator
- ABP-700 agonist
- PADSEVONIL partial agonist
- LOREDIPLON positive allosteric modulator
- PENTOBARBITAL positive allosteric modulator
- METHARBITAL positive allosteric modulator
- CHLORDIAZEPOXIDE positive allosteric modulator
- CLONAZEPAM positive allosteric modulator
- BUTALBITAL positive allosteric modulator
- REMIMAZOLAM BESYLATE positive allosteric modulator
- PROPOFOL positive allosteric modulator
- OXAZEPAM positive allosteric modulator
- LORAZEPAM positive allosteric modulator
- ETHCHLORVYNOL positive modulator
- TRIAZOLAM positive allosteric modulator
- MIDAZOLAM positive allosteric modulator
- ALPRAZOLAM positive allosteric modulator
- ETOMIDATE positive modulator
- CLOBAZAM positive allosteric modulator
- THIOPENTAL SODIUM positive allosteric modulator
- PRIMIDONE positive allosteric modulator
- HALOTHANE positive allosteric modulator
- TEMAZEPAM positive allosteric modulator
- PRAZEPAM positive allosteric modulator
- HALAZEPAM positive allosteric modulator
- PENTOBARBITAL SODIUM positive allosteric modulator
- MEPROBAMATE agonist
Related proteins · sequence + function similarity
- Gamma-aminobutyric acid receptor subunit beta-1 1.00
- Gamma-aminobutyric acid receptor subunit beta-1 1.00
- Gamma-aminobutyric acid receptor subunit beta-1 1.00
- Gamma-aminobutyric acid receptor subunit beta-2 0.98
- Gamma-aminobutyric acid receptor subunit beta-3 0.98
- Gamma-aminobutyric acid receptor subunit beta-3 0.98
- Gamma-aminobutyric acid receptor subunit beta-3 0.98
- Gamma-aminobutyric acid receptor subunit beta-2 0.98
- Gamma-aminobutyric acid receptor subunit beta-3 0.98
- Gamma-aminobutyric acid receptor subunit beta-2 0.97
- Gamma-aminobutyric acid receptor subunit beta-2 0.97
- Gamma-aminobutyric acid receptor subunit beta-2 0.97
Co-cited proteins · studied together in the literature
- Gamma-aminobutyric acid receptor subunit beta-3 2 shared papers
- Gamma-aminobutyric acid receptor subunit theta 2 shared papers
- Gamma-aminobutyric acid receptor subunit gamma-1 1 shared papers
- Gamma-aminobutyric acid receptor subunit alpha-1 1 shared papers
- Gamma-aminobutyric acid receptor subunit alpha-2 1 shared papers
- UDP-N-acetylglucosamine transferase subunit ALG13 1 shared papers
- Gamma-aminobutyric acid receptor subunit epsilon 1 shared papers
- Gamma-aminobutyric acid receptor subunit alpha-3 1 shared papers
- Gamma-aminobutyric acid receptor subunit gamma-2 1 shared papers
- Regulating synaptic membrane exocytosis protein 3 1 shared papers
- Protein DGCR6 1 shared papers
- Lysophosphatidic acid phosphatase type 6 1 shared papers
Literature · 13 cited papers
- A second patient with a de novo GABRB1 mutation and epileptic encephalopathy. Ann. Neurol. · 2016
- Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function. Ann. Neurol. · 2016
- Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Nat. Commun. · 2014
- De novo mutations in epileptic encephalopathies. Nature · 2013
- Impact of epsilon and theta subunits on pharmacological properties of alpha3beta1 GABAA receptors expressed in Xenopus oocytes. BMC Pharmacol. · 2006
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature · 2005
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
- Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. · 2004
- Theta, a novel gamma-aminobutyric acid type A receptor subunit. Proc. Natl. Acad. Sci. U.S.A. · 1999
- Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia. Am. J. Med. Genet. · 1994
- Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits. FEBS Lett. · 1989
- Differential expression of gamma-aminobutyric acidA receptor subunits. Mol. Pharmacol. · 1990
- … and 1 more in the literature graph