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
Functions
chloride channel activity / extracellular ligand-gated ion channel activity / GABA-A receptor activity / GABA-gated chloride ion channel activity
Processes
cellular 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 / transport
Components
cell 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
ResourceLink
UniProtKB IDP28472
UniProtKB Entry NameGBRB3_HUMAN
GenBank Protein ID182925
GenBank Gene IDM82919
GenAtlas IDGABRB3
HGNC IDHGNC:4083
General References
  1. 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. [PubMed:1664410]
  2. 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. [PubMed:14702039]
  3. 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. [PubMed:16572171]
  4. 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. [PubMed:15489334]
  5. 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. [PubMed:8382702]
  6. 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. [PubMed:1714232]
  7. 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. [PubMed:18281286]
  8. 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. [PubMed:22243422]
  9. 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. [PubMed:24909990]
  10. 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. [PubMed:12189488]
  11. 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. [PubMed:18514161]
  12. 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. [PubMed:22303015]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00592Piperazineapproved, vet_approvedyesagonistDetails
DB00602Ivermectinapproved, investigational, vet_approvedunknownagonistDetails
DB00690Flurazepamapproved, illicit, investigationalyespotentiatorDetails
DB00818Propofolapproved, investigational, vet_approvedyespotentiatorDetails
DB00842OxazepamapprovedyespotentiatorDetails
DB00231Temazepamapproved, investigationalyespotentiatorDetails
DB01558Bromazepamapproved, illicit, investigationalyespotentiatorDetails
DB00829Diazepamapproved, illicit, investigational, vet_approvedyespotentiatorDetails
DB01595NitrazepamapprovedyespotentiatorDetails
DB00897Triazolamapproved, investigationalyespotentiatorDetails
DB01559Clotiazepamapproved, illicityespotentiatorDetails
DB01567Fludiazepamexperimental, illicityespotentiatorDetails
DB01588Prazepamapproved, illicityespotentiatorDetails
DB01594CinolazepamexperimentalyespotentiatorDetails
DB01589Quazepamapproved, illicityespotentiatorDetails
DB01215Estazolamapproved, illicityespotentiatorDetails
DB00801Halazepamapproved, illicit, withdrawnyespotentiatorDetails
DB00546AdinazolamexperimentalyespotentiatorDetails
DB06716Fospropofolapproved, illicit, investigationalyespotentiatorDetails
DB00898EthanolapprovedunknownDetails
DB00431Lindaneapproved, withdrawnunknownDetails
DB12458MuscimolinvestigationalunknownDetails
DB01544Flunitrazepamapproved, illicitunknownagonistDetails
DB00425ZolpidemapprovedunknownagonistDetails
DB01189Desfluraneapprovedyespositive allosteric modulatorDetails
DB00659Acamprosateapproved, investigationalyespositive modulatorDetails
DB00404Alprazolamapproved, illicit, investigationalyespositive allosteric modulatorDetails
DB00237Butabarbitalapproved, illicityespositive allosteric modulatorDetails
DB00475Chlordiazepoxideapproved, illicit, investigationalyespositive allosteric modulatorDetails
DB00349Clobazamapproved, illicityespositive allosteric modulatorDetails
DB01068Clonazepamapproved, illicityespositive allosteric modulatorDetails
DB00628Clorazepic acidapproved, illicityespositive allosteric modulatorDetails
DB00186Lorazepamapprovedyespositive allosteric modulatorDetails
DB00189Ethchlorvynolapproved, illicit, withdrawnyespositive allosteric modulatorDetails
DB00228Enfluraneapproved, investigational, vet_approvedyespositive allosteric modulatorDetails
DB00231Temazepamapproved, investigationalyespositive allosteric modulatorDetails
DB00241Butalbitalapproved, illicityespositive allosteric modulatorDetails
DB00273Topiramateapprovedyespositive allosteric modulatorDetails
DB00292Etomidateapprovedyespositive allosteric modulatorDetails
DB00306Talbutalapproved, illicityespositive allosteric modulatorDetails
DB00312Pentobarbitalapproved, investigational, vet_approvedyespositive allosteric modulatorDetails
DB00371Meprobamateapproved, illicityespositive allosteric modulatorDetails
DB00402Eszopicloneapproved, investigationalyespositive allosteric modulatorDetails
DB00463Metharbitalwithdrawnyespositive allosteric modulatorDetails
DB00753Isofluraneapproved, vet_approvedyespositive allosteric modulatorDetails
DB00794Primidoneapproved, vet_approvedyespositive allosteric modulatorDetails
DB00801Halazepamapproved, illicit, withdrawnyespositive allosteric modulatorDetails
DB00818Propofolapproved, investigational, vet_approvedyespositive allosteric modulatorDetails
DB00829Diazepamapproved, illicit, investigational, vet_approvedyespositive allosteric modulatorDetails
DB00842Oxazepamapprovedyespositive allosteric modulatorDetails
DB00897Triazolamapproved, investigationalyespositive allosteric modulatorDetails
DB01028Methoxyfluraneapproved, investigational, vet_approvedyespositive allosteric modulatorDetails
DB01107Methyprylonapproved, illicit, withdrawnyespositive allosteric modulatorDetails
DB01159Halothaneapproved, vet_approvedyespositive allosteric modulatorDetails
DB01205Flumazenilapprovedyespositive allosteric modulatorDetails
DB01215Estazolamapproved, illicityespositive allosteric modulatorDetails
DB01236Sevofluraneapproved, vet_approvedyespositive allosteric modulatorDetails
DB01437Glutethimideapproved, illicityespositive allosteric modulatorDetails
DB01588Prazepamapproved, illicityespositive allosteric modulatorDetails
DB01589Quazepamapproved, illicityespositive allosteric modulatorDetails
DB00543AmoxapineapprovedunknownbinderDetails
DB00334Olanzapineapproved, investigationalunknowninhibitorDetails
DB01708Prasteroneapproved, investigational, nutraceuticalunknownantagonistDetails
DB11582ThiocolchicosideexperimentalyesantagonistDetails
DB09118Stiripentolapprovedyesagonistpositive allosteric modulatorDetails
DB01956Taurineapproved, nutraceuticalyesagonistDetails
DB00555Lamotrigineapproved, investigationalunknowninhibitorDetails
DB11901Apalutamideapproved, investigationalunknownantagonistDetails