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Gamma-aminobutyric acid receptor subunit beta-3 (GABA(A) receptor subunit beta-3)

 GBRB3_MOUSE             Reviewed;         473 AA.
P63080; P15433; Q3UHR3;
13-SEP-2004, integrated into UniProtKB/Swiss-Prot.
13-SEP-2004, sequence version 1.
10-MAY-2017, entry version 120.
RecName: Full=Gamma-aminobutyric acid receptor subunit beta-3;
AltName: Full=GABA(A) receptor subunit beta-3;
Flags: Precursor;
Name=Gabrb3; Synonyms=Gabrb-3;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
STRAIN=DBA/2J; TISSUE=Brain;
PubMed=7893750; DOI=10.1016/0167-4781(95)00009-6;
Kamatchi G.L., Kofuji P., Wang J.B., Fernando J.C., Liu Z.,
Mathura J.R., Burt D.R.;
"GABAA receptor beta 1, beta 2, and beta 3 subunits: comparisons in
DBA/2J and C57BL/6J mice.";
Biochim. Biophys. Acta 1261:134-142(1995).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
STRAIN=C57BL/6J; TISSUE=Hypothalamus;
PubMed=16141072; DOI=10.1126/science.1112014;
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M.,
Davis M.J., Wilming L.G., Aidinis V., Allen J.E.,
Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L.,
Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M.,
Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R.,
Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G.,
di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G.,
Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M.,
Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N.,
Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T.,
Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H.,
Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K.,
Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J.,
Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L.,
Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K.,
Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P.,
Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O.,
Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G.,
Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M.,
Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B.,
Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K.,
Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A.,
Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K.,
Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C.,
Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J.,
Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y.,
Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T.,
Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N.,
Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N.,
Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S.,
Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J.,
Hayashizaki Y.;
"The transcriptional landscape of the mammalian genome.";
Science 309:1559-1563(2005).
[3]
DISRUPTION PHENOTYPE, AND FUNCTION.
PubMed=9108119; DOI=10.1073/pnas.94.8.4143;
Homanics G.E., DeLorey T.M., Firestone L.L., Quinlan J.J.,
Handforth A., Harrison N.L., Krasowski M.D., Rick C.E., Korpi E.R.,
Makela R., Brilliant M.H., Hagiwara N., Ferguson C., Snyder K.,
Olsen R.W.;
"Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have
epilepsy, cleft palate, and hypersensitive behavior.";
Proc. Natl. Acad. Sci. U.S.A. 94:4143-4148(1997).
[4]
DISRUPTION PHENOTYPE, AND FUNCTION.
PubMed=10670447; DOI=10.1016/S0306-4522(99)00481-9;
Ugarte S.D., Homanics G.E., Firestone L.L., Hammond D.L.;
"Sensory thresholds and the antinociceptive effects of GABA receptor
agonists in mice lacking the beta3 subunit of the GABA(A) receptor.";
Neuroscience 95:795-806(2000).
-!- 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. {ECO:0000269|PubMed:10670447,
ECO:0000269|PubMed:9108119}.
-!- SUBUNIT: Heteropentamer, formed by a combination of alpha, beta,
gamma, delta and rho chains. Can form functional homopentamers (in
vitro). Interacts with UBQLN1. May interact with KIF21B.
{ECO:0000250|UniProtKB:P28472, ECO:0000250|UniProtKB:P63079}.
-!- SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell
membrane {ECO:0000250|UniProtKB:P28472}; Multi-pass membrane
protein {ECO:0000250|UniProtKB:P28472}. Cell membrane
{ECO:0000250|UniProtKB:P28472}; Multi-pass membrane protein
{ECO:0000250|UniProtKB:P28472}. Cytoplasmic vesicle membrane
{ECO:0000250|UniProtKB:P63079}.
-!- DISRUPTION PHENOTYPE: Important perinatal lethality. About 57% of
the pups have a cleft palate. About 90% of the pups die within 24
hours after birth, including 30% of those that do not have a cleft
palate. Surviving mice are runted until weaning, but attain normal
body weight in adulthood. They are hyperactive and display
behavorial abnormalities. They do not display jerky gait, but have
difficulty with swimming, walking on grids, and avoiding to fall
from rotarods. Mutant mice are fertile, but females do not display
normal nurturing behavior. Mutant mice have abnormal
electroencephalograms (EEGs) and tend to suffer from seizures.
Brains from mutant mice show strongly reduced numbers of GABA and
benzodiazepine receptors. Neurons from dorsal root ganglion show a
decrease of about 80% of GABA-induced chloride currents. In
addition, mutant mice have an average lifespan of about 18 weeks,
instead of the expected 127 weeks (PubMed:9108119). Mutant mice
display a lowered threshold to nociception and are abnormally
sensitive to touch and heat stimuli. GABA receptor agonists have
decreased antinociceptive effects in mutant mice
(PubMed:10670447). {ECO:0000269|PubMed:10670447,
ECO:0000269|PubMed:9108119}.
-!- SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9)
family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily.
GABRB3 sub-subfamily. {ECO:0000305}.
-----------------------------------------------------------------------
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Distributed under the Creative Commons Attribution-NoDerivs License
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EMBL; U14420; AAB60502.1; -; mRNA.
EMBL; AK039070; BAC30230.1; -; mRNA.
EMBL; AK147247; BAE27794.1; -; mRNA.
CCDS; CCDS21324.1; -.
PIR; S53532; S53532.
RefSeq; NP_032097.1; NM_008071.3.
UniGene; Mm.8004; -.
ProteinModelPortal; P63080; -.
SMR; P63080; -.
STRING; 10090.ENSMUSP00000038051; -.
ChEMBL; CHEMBL2094133; -.
iPTMnet; P63080; -.
PhosphoSitePlus; P63080; -.
MaxQB; P63080; -.
PaxDb; P63080; -.
PeptideAtlas; P63080; -.
PRIDE; P63080; -.
DNASU; 14402; -.
Ensembl; ENSMUST00000039697; ENSMUSP00000038051; ENSMUSG00000033676.
GeneID; 14402; -.
KEGG; mmu:14402; -.
UCSC; uc009hee.1; mouse.
CTD; 2562; -.
MGI; MGI:95621; Gabrb3.
eggNOG; KOG3643; Eukaryota.
eggNOG; ENOG410XPWH; LUCA.
GeneTree; ENSGT00760000118821; -.
HOGENOM; HOG000231335; -.
HOVERGEN; HBG051707; -.
InParanoid; P63080; -.
KO; K05181; -.
Reactome; R-MMU-975298; Ligand-gated ion channel transport.
Reactome; R-MMU-977441; GABA A receptor activation.
ChiTaRS; Gabrb3; mouse.
PRO; PR:P63080; -.
Proteomes; UP000000589; Chromosome 7.
Bgee; ENSMUSG00000033676; -.
ExpressionAtlas; P63080; baseline and differential.
Genevisible; P63080; MM.
GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
GO; GO:0030659; C:cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell.
GO; GO:1902711; C:GABA-A receptor complex; IMP:UniProtKB.
GO; GO:0060077; C:inhibitory synapse; ISO:MGI.
GO; GO:0005887; C:integral component of plasma membrane; ISS:UniProtKB.
GO; GO:0005886; C:plasma membrane; IDA:MGI.
GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell.
GO; GO:0004890; F:GABA-A receptor activity; IMP:UniProtKB.
GO; GO:0022851; F:GABA-gated chloride ion channel activity; IMP:UniProtKB.
GO; GO:0071420; P:cellular response to histamine; ISS:UniProtKB.
GO; GO:1902476; P:chloride transmembrane transport; IMP:UniProtKB.
GO; GO:0090102; P:cochlea development; IMP:DFLAT.
GO; GO:0007214; P:gamma-aminobutyric acid signaling pathway; ISS:UniProtKB.
GO; GO:0060080; P:inhibitory postsynaptic potential; IMP:CACAO.
GO; GO:0060119; P:inner ear receptor cell development; IMP:DFLAT.
GO; GO:0060384; P:innervation; IMP:DFLAT.
GO; GO:0043524; P:negative regulation of neuron apoptotic process; IMP:DFLAT.
GO; GO:1901215; P:negative regulation of neuron death; IMP:DFLAT.
GO; GO:0048666; P:neuron development; IMP:DFLAT.
GO; GO:0060021; P:palate development; IMP:UniProtKB.
GO; GO:0043523; P:regulation of neuron apoptotic process; IMP:DFLAT.
GO; GO:0007605; P:sensory perception of sound; IMP:DFLAT.
Gene3D; 2.70.170.10; -; 1.
InterPro; IPR006028; GABAA/Glycine_rcpt.
InterPro; IPR002289; GABAAb_rcpt.
InterPro; IPR006202; Neur_chan_lig-bd.
InterPro; IPR006201; Neur_channel.
InterPro; IPR006029; Neurotrans-gated_channel_TM.
InterPro; IPR018000; Neurotransmitter_ion_chnl_CS.
PANTHER; PTHR18945; PTHR18945; 1.
Pfam; PF02931; Neur_chan_LBD; 1.
Pfam; PF02932; Neur_chan_memb; 1.
PRINTS; PR01160; GABAARBETA.
PRINTS; PR00253; GABAARECEPTR.
PRINTS; PR00252; NRIONCHANNEL.
SUPFAM; SSF63712; SSF63712; 1.
SUPFAM; SSF90112; SSF90112; 1.
TIGRFAMs; TIGR00860; LIC; 1.
PROSITE; PS00236; NEUROTR_ION_CHANNEL; 1.
2: Evidence at transcript level;
Cell junction; Cell membrane; Chloride; Chloride channel;
Complete proteome; Cytoplasmic vesicle; Disulfide bond; Glycoprotein;
Ion channel; Ion transport; Ligand-gated ion channel; Membrane;
Postsynaptic cell membrane; Receptor; Reference proteome; Signal;
Synapse; Transmembrane; Transmembrane helix; Transport.
SIGNAL 1 25 {ECO:0000255}.
CHAIN 26 473 Gamma-aminobutyric acid receptor subunit
beta-3.
/FTId=PRO_0000000463.
TOPO_DOM 26 245 Extracellular. {ECO:0000250}.
TRANSMEM 246 267 Helical. {ECO:0000250}.
TOPO_DOM 268 270 Cytoplasmic. {ECO:0000250}.
TRANSMEM 271 293 Helical. {ECO:0000250}.
TOPO_DOM 294 304 Extracellular. {ECO:0000250}.
TRANSMEM 305 327 Helical. {ECO:0000250}.
TOPO_DOM 328 450 Cytoplasmic. {ECO:0000250}.
TRANSMEM 451 472 Helical. {ECO:0000250}.
REGION 120 122 Agonist binding. {ECO:0000250}.
REGION 180 182 Agonist binding. {ECO:0000250}.
REGION 290 311 Allosteric effector binding.
{ECO:0000250}.
BINDING 225 225 Agonist. {ECO:0000250}.
CARBOHYD 33 33 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 105 105 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 174 174 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 161 175 {ECO:0000250}.
SEQUENCE 473 AA; 54166 MW; 6A5ABD8A9143FE45 CRC64;
MWGFAGGRLF GIFSAPVLVA VVCCAQSVND PGNMSFVKET VDKLLKGYDI RLRPDFGGPP
VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS GIPLNLTLDN RVADQLWVPD
TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE
SYGYTTDDIE FYWRGGDKAV TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK
RNIGYFILQT YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI
PYVKAIDMYL MGCFVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK NDRSKSEINR
VDAHGNILLA PMDVHNEMNE VAGSVGDTRN SAISFDNSGI QYRKQSMPKE GHGRYMGDRS
IPHKKTHLRR RSSQLKIKIP DLTDVNAIDR WSRIVFPFTF SLFNLVYWLY YVN


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