Tmic
You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Toxin, Toxin Target Database.
NameGamma-aminobutyric acid receptor subunit beta-3
Synonyms
  • GABA(A) receptor subunit beta-3
Gene NameGABRB3
OrganismHuman
Amino acid sequence
>lcl|BSEQ0004605|Gamma-aminobutyric acid receptor subunit beta-3
MWGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPP
VCVGMNIDIASIDMVSEVNMDYTLTMYFQQYWRDKRLAYSGIPLNLTLDNRVADQLWVPD
TYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSFRLK
RNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKI
PYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQKKLAEKTAKAKNDRSKSESNR
VDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRS
LPHKKTHLRRRSSQLKIKIPDLTDVNAIDRWSRIVFPFTFSLFNLVYWLYYVN
Number of residues473
Molecular Weight54115.04
Theoretical pI9.41
GO Classification
Functions
  • chloride channel activity
  • GABA-A receptor activity
  • GABA-gated chloride ion channel activity
  • extracellular ligand-gated ion channel activity
Processes
  • innervation
  • cellular response to histamine
  • chloride transmembrane transport
  • palate development
  • cochlea development
  • negative regulation of neuron apoptotic process
  • synaptic transmission
  • regulation of membrane potential
  • neurological system process
  • inhibitory postsynaptic potential
  • transmembrane transport
  • transport
  • sensory perception of sound
  • signal transduction
  • ion transmembrane transport
  • inner ear receptor cell development
Components
  • neuron projection
  • postsynaptic membrane
  • plasma membrane
  • cell junction
  • integral component of plasma membrane
  • chloride channel complex
  • GABA-A receptor complex
  • synapse
General FunctionGaba-gated chloride ion channel activity
Specific FunctionComponent 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 Regions246-267 271-293 305-327 451-472
GenBank Protein ID182925
UniProtKB IDP28472
UniProtKB Entry NameGBRB3_HUMAN
Cellular LocationCell 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
GenBank Gene IDM82919
GeneCard IDNot Available
GenAtlas IDGABRB3
HGNC IDHGNC:4083
Chromosome Location15
Locus15q11.2-q12
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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 22303015