Gamma-aminobutyric acid receptor subunit beta-3
Details
- Name
- Gamma-aminobutyric acid receptor subunit beta-3
- Synonyms
- GABA(A) receptor subunit beta-3
- Gene Name
- GABRB3
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0004605|Gamma-aminobutyric acid receptor subunit beta-3 MWGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPP VCVGMNIDIASIDMVSEVNMDYTLTMYFQQYWRDKRLAYSGIPLNLTLDNRVADQLWVPD TYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIE SYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSFRLK RNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKI PYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQKKLAEKTAKAKNDRSKSESNR VDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRS LPHKKTHLRRRSSQLKIKIPDLTDVNAIDRWSRIVFPFTFSLFNLVYWLYYVN
- Number of residues
- 473
- Molecular Weight
- 54115.04
- Theoretical pI
- 9.41
- GO Classification
- Functionschloride channel activity / extracellular ligand-gated ion channel activity / GABA-A receptor activity / GABA-gated chloride ion channel activityProcessescellular response to histamine / chloride transmembrane transport / cochlea development / inhibitory postsynaptic potential / inner ear receptor cell development / innervation / ion transmembrane transport / negative regulation of neuron apoptotic process / neurological system process / palate development / regulation of membrane potential / sensory perception of sound / signal transduction / synaptic transmission / transmembrane transport / transportComponentscell junction / chloride channel complex / GABA-A receptor complex / integral component of plasma membrane / neuron projection / plasma membrane / postsynaptic membrane / synapse
- General Function
- Gaba-gated chloride ion channel activity
- Specific Function
- 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.
- Pfam Domain Function
- Transmembrane Regions
- 246-267 271-293 305-327 451-472
- Cellular Location
- Cell junction
- Gene sequence
>lcl|BSEQ0016761|Gamma-aminobutyric acid receptor subunit beta-3 (GABRB3) ATGTGGGGCCTTGCGGGAGGAAGGCTTTTCGGCATCTTCTCGGCCCCGGTGCTGGTGGCT GTGGTGTGCTGCGCCCAGAGTGTGAACGATCCCGGGAACATGTCCTTTGTGAAGGAGACG GTGGACAAGCTGTTGAAAGGCTACGACATTCGCCTAAGACCCGACTTCGGGGGTCCCCCG GTCTGCGTGGGGATGAACATCGACATCGCCAGCATCGACATGGTTTCCGAAGTCAACATG GATTATACCTTAACCATGTATTTTCAACAATATTGGAGAGATAAAAGGCTCGCCTATTCT GGGATCCCTCTCAACCTCACGCTTGACAATCGAGTGGCTGACCAGCTATGGGTGCCCGAC ACATATTTCTTAAATGACAAAAAGTCATTTGTGCATGGAGTGACAGTGAAAAACCGCATG ATCCGTCTTCACCCTGATGGGACAGTGCTGTATGGGCTCAGAATCACCACGACAGCAGCA TGCATGATGGACCTCAGGAGATACCCCCTGGACGAGCAGAACTGCACTCTGGAAATTGAA AGCTATGGCTACACCACGGATGACATTGAGTTTTACTGGCGAGGCGGGGACAAGGCTGTT ACCGGAGTGGAAAGGATTGAGCTCCCGCAGTTCTCCATCGTGGAGCACCGTCTGGTCTCG AGGAATGTTGTCTTCGCCACAGGTGCCTATCCTCGACTGTCACTGAGCTTTCGGTTGAAG AGGAACATTGGATACTTCATTCTTCAGACTTATATGCCCTCTATACTGATAACGATTCTG TCGTGGGTGTCCTTCTGGATCAATTATGATGCATCTGCTGCTAGAGTTGCCCTCGGGATC ACAACTGTGCTGACAATGACAACCATCAACACCCACCTTCGGGAGACCTTGCCCAAAATC CCCTATGTCAAAGCCATTGACATGTACCTTATGGGCTGCTTCGTCTTTGTGTTCCTGGCC CTTCTGGAGTATGCCTTTGTCAACTACATTTTCTTTGGAAGAGGCCCTCAAAGGCAGAAG AAGCTTGCAGAAAAGACAGCCAAGGCAAAGAATGACCGTTCAAAGAGCGAAAGCAACCGG GTGGATGCTCATGGAAATATTCTGTTGACATCGCTGGAAGTTCACAATGAAATGAATGAG GTCTCAGGCGGCATTGGCGATACCAGGAATTCAGCAATATCCTTTGACAACTCAGGAATC CAGTACAGGAAACAGAGCATGCCTCGAGAAGGGCATGGGCGATTCCTGGGGGACAGAAGC CTCCCGCACAAGAAGACCCATCTACGGAGGAGGTCTTCACAGCTCAAAATTAAAATACCT GATCTAACCGATGTGAATGCCATAGACAGATGGTCCAGGATCGTGTTTCCATTCACTTTT TCTCTTTTCAACTTAGTTTACTGGCTGTACTATGTTAACTGA
- Chromosome Location
- 15
- Locus
- 15q11.2-q12
- External Identifiers
Resource Link UniProtKB ID P28472 UniProtKB Entry Name GBRB3_HUMAN GenBank Protein ID 182925 GenBank Gene ID M82919 GenAtlas ID GABRB3 HGNC ID HGNC:4083 - General References
- Wagstaff J, Chaillet JR, Lalande M: The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. Genomics. 1991 Dec;11(4):1071-8. [Article]
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
- Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES, Nusbaum C: Analysis of the DNA sequence and duplication history of human chromosome 15. Nature. 2006 Mar 30;440(7084):671-5. [Article]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
- Kirkness EF, Fraser CM: A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3). J Biol Chem. 1993 Feb 25;268(6):4420-8. [Article]
- Wagstaff J, Knoll JH, Fleming J, Kirkness EF, Martin-Gallardo A, Greenberg F, Graham JM Jr, Menninger J, Ward D, Venter JC, et al.: Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet. 1991 Aug;49(2):330-7. [Article]
- Saras A, Gisselmann G, Vogt-Eisele AK, Erlkamp KS, Kletke O, Pusch H, Hatt H: Histamine action on vertebrate GABAA receptors: direct channel gating and potentiation of GABA responses. J Biol Chem. 2008 Apr 18;283(16):10470-5. doi: 10.1074/jbc.M709993200. Epub 2008 Feb 15. [Article]
- Chiara DC, Dostalova Z, Jayakar SS, Zhou X, Miller KW, Cohen JB: Mapping general anesthetic binding site(s) in human alpha1beta3 gamma-aminobutyric acid type A receptors with [(3)H]TDBzl-etomidate, a photoreactive etomidate analogue. Biochemistry. 2012 Jan 31;51(4):836-47. doi: 10.1021/bi201772m. Epub 2012 Jan 23. [Article]
- Miller PS, Aricescu AR: Crystal structure of a human GABAA receptor. Nature. 2014 Aug 21;512(7514):270-5. doi: 10.1038/nature13293. Epub 2014 Jun 8. [Article]
- Buhr A, Bianchi MT, Baur R, Courtet P, Pignay V, Boulenger JP, Gallati S, Hinkle DJ, Macdonald RL, Sigel E: Functional characterization of the new human GABA(A) receptor mutation beta3(R192H). Hum Genet. 2002 Aug;111(2):154-60. Epub 2002 Jul 16. [Article]
- Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV: Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet. 2008 Jun;82(6):1249-61. doi: 10.1016/j.ajhg.2008.04.020. [Article]
- Gurba KN, Hernandez CC, Hu N, Macdonald RL: GABRB3 mutation, G32R, associated with childhood absence epilepsy alters alpha1beta3gamma2L gamma-aminobutyric acid type A (GABAA) receptor expression and channel gating. J Biol Chem. 2012 Apr 6;287(15):12083-97. doi: 10.1074/jbc.M111.332528. Epub 2012 Feb 2. [Article]
Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details DB00592 Piperazine approved, vet_approved yes agonist Details DB00818 Propofol approved, investigational, vet_approved yes potentiator Details DB01567 Fludiazepam experimental, illicit yes potentiator Details DB06716 Fospropofol approved, illicit, investigational yes potentiator Details DB00898 Ethanol approved unknown Details DB00431 Lindane approved, withdrawn unknown Details DB12458 Muscimol investigational unknown Details DB01189 Desflurane approved yes positive allosteric modulator Details DB00404 Alprazolam approved, illicit, investigational yes positive allosteric modulator Details DB00237 Butabarbital approved, illicit yes positive allosteric modulator Details DB00475 Chlordiazepoxide approved, illicit, investigational yes positive allosteric modulator Details DB00349 Clobazam approved, illicit yes positive allosteric modulator Details DB01068 Clonazepam approved, illicit yes positive allosteric modulator Details DB00628 Clorazepic acid approved, illicit yes positive allosteric modulator Details DB00186 Lorazepam approved yes positive allosteric modulator Details DB00189 Ethchlorvynol approved, illicit, withdrawn yes positive allosteric modulator Details DB00228 Enflurane approved, investigational, vet_approved yes potentiator Details DB00231 Temazepam approved, investigational yes positive allosteric modulator Details DB00241 Butalbital approved, illicit yes positive allosteric modulator Details DB00292 Etomidate approved yes positive allosteric modulator Details DB00306 Talbutal approved, illicit yes positive allosteric modulator Details DB00312 Pentobarbital approved, investigational, vet_approved yes positive allosteric modulator Details DB00371 Meprobamate approved, illicit yes positive allosteric modulator Details DB00402 Eszopiclone approved, investigational yes positive allosteric modulator Details DB00463 Metharbital withdrawn yes positive allosteric modulator Details DB00753 Isoflurane approved, vet_approved yes positive allosteric modulator Details DB00794 Primidone approved, vet_approved yes positive allosteric modulator Details DB00801 Halazepam approved, illicit, withdrawn yes positive allosteric modulator Details DB00818 Propofol approved, investigational, vet_approved yes positive allosteric modulator Details DB00829 Diazepam approved, illicit, investigational, vet_approved yes positive allosteric modulator Details DB00842 Oxazepam approved yes positive allosteric modulator Details DB01028 Methoxyflurane approved, investigational, vet_approved, withdrawn yes positive allosteric modulator Details DB01107 Methyprylon approved, illicit, withdrawn yes positive allosteric modulator Details DB01159 Halothane approved, vet_approved yes positive allosteric modulator Details DB01205 Flumazenil approved yes positive allosteric modulator Details DB01215 Estazolam approved, illicit yes positive allosteric modulator Details DB01236 Sevoflurane approved, vet_approved yes agonist Details DB01437 Glutethimide approved, illicit yes positive allosteric modulator Details DB01588 Prazepam approved, illicit yes positive allosteric modulator Details DB01589 Quazepam approved, illicit yes positive allosteric modulator Details DB00543 Amoxapine approved unknown binder Details DB01708 Prasterone approved, investigational, nutraceutical unknown antagonist Details DB11582 Thiocolchicoside experimental yes antagonist Details DB09118 Stiripentol approved yes agonistpositive allosteric modulator Details DB01956 Taurine approved, nutraceutical yes agonist Details DB00555 Lamotrigine approved, investigational unknown antagonistinducer Details DB11901 Apalutamide approved, investigational no antagonist Details DB11859 Brexanolone approved, investigational yes positive allosteric modulator Details DB01043 Memantine approved, investigational unknown binder Details DB00603 Medroxyprogesterone acetate approved, investigational unknown inhibitor Details DB00252 Phenytoin approved, vet_approved unknown Details DB00683 Midazolam approved, illicit yes positive allosteric modulator Details DB00690 Flurazepam approved, illicit, investigational yes positive allosteric modulator Details DB00897 Triazolam approved, investigational yes positive allosteric modulator Details DB01558 Bromazepam approved, illicit, investigational yes positive allosteric modulator Details DB01595 Nitrazepam approved yes positive allosteric modulator Details DB01489 Camazepam experimental, illicit yes positive allosteric modulator Details DB01511 Delorazepam experimental, illicit yes positive allosteric modulator Details DB01544 Flunitrazepam approved, illicit yes positive allosteric modulator Details DB09166 Etizolam experimental yes positive allosteric modulator Details DB13437 Medazepam experimental yes positive allosteric modulator Details DB13837 Doxefazepam experimental yes positive allosteric modulator Details DB13872 Lormetazepam approved yes positive allosteric modulator Details DB14028 Nordazepam experimental yes positive allosteric modulator Details DB00546 Adinazolam experimental yes positive allosteric modulator Details DB01545 Ethyl loflazepate experimental, illicit yes positive allosteric modulator Details DB01553 Cloxazolam experimental yes positive allosteric modulator Details DB01559 Clotiazepam approved, illicit yes positive allosteric modulator Details DB01587 Ketazolam approved yes positive allosteric modulator Details DB01594 Cinolazepam experimental yes positive allosteric modulator Details DB09017 Brotizolam investigational, withdrawn yes positive allosteric modulator Details DB13335 Pinazepam experimental yes positive allosteric modulator Details DB13643 Loprazolam experimental yes positive allosteric modulator Details DB14672 Oxazepam acetate experimental yes positive allosteric modulator Details DB12537 1,2-Benzodiazepine approved, investigational unknown positive allosteric modulator Details DB14715 Cinazepam experimental yes positive allosteric modulator Details DB14719 Bentazepam experimental yes positive allosteric modulator Details DB15489 Mexazolam experimental yes positive allosteric modulator Details DB12404 Remimazolam approved, investigational yes positive allosteric modulator Details DB05087 Ganaxolone approved, investigational yes positive allosteric modulator Details DB15490 Zuranolone approved, experimental yes positive allosteric modulator Details