GBRB1_HUMAN
ID GBRB1_HUMAN Reviewed; 474 AA.
AC P18505; B2R6U7; D6REL3; Q16166; Q8TBK3;
DT 01-NOV-1990, integrated into UniProtKB/Swiss-Prot.
DT 10-OCT-2002, sequence version 2.
DT 03-AUG-2022, entry version 213.
DE RecName: Full=Gamma-aminobutyric acid receptor subunit beta-1;
DE AltName: Full=GABA(A) receptor subunit beta-1;
DE Flags: Precursor;
GN Name=GABRB1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=2465923; DOI=10.1016/0014-5793(89)80563-0;
RA Schofield P.R., Pritchett D.B., Sontheimer H., Kettenmann H., Seeburg P.H.;
RT "Sequence and expression of human GABAA receptor alpha 1 and beta 1
RT subunits.";
RL FEBS Lett. 244:361-364(1989).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=1655634; DOI=10.1016/0888-7543(91)90189-l;
RA Kirkness E.F., Kusiak J.W., Fleming J.T., Menninger J., Gocayne J.D.,
RA Ward D.C., Venter J.C.;
RT "Isolation, characterization, and localization of human genomic DNA
RT encoding the beta 1 subunit of the GABAA receptor (GABRB1).";
RL Genomics 10:985-995(1991).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Fetal brain;
RX PubMed=24722188; DOI=10.1038/ncomms4650;
RA Corominas R., Yang X., Lin G.N., Kang S., Shen Y., Ghamsari L., Broly M.,
RA Rodriguez M., Tam S., Wanamaker S.A., Fan C., Yi S., Tasan M., Lemmens I.,
RA Kuang X., Zhao N., Malhotra D., Michaelson J.J., Vacic V., Calderwood M.A.,
RA Roth F.P., Tavernier J., Horvath S., Salehi-Ashtiani K., Korkin D.,
RA Sebat J., Hill D.E., Hao T., Vidal M., Iakoucheva L.M.;
RT "Protein interaction network of alternatively spliced isoforms from brain
RT links genetic risk factors for autism.";
RL Nat. Commun. 5:3650-3650(2014).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ASN-429.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 19-474 (ISOFORM 1).
RX PubMed=2160058;
RA Garrett K.M., Saito N., Duman R.S., Abel M.S., Ashton R.A., Fujimori S.,
RA Beer B., Tallman J.F., Vitek M.P., Blume A.J.;
RT "Differential expression of gamma-aminobutyric acidA receptor subunits.";
RL Mol. Pharmacol. 37:652-657(1990).
RN [9]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 404-434 (ISOFORM 1), AND VARIANT GLN-421.
RX PubMed=8178835; DOI=10.1002/ajmg.1320540105;
RA Coon H., Sobell J., Heston L., Sommer S., Hoff M., Holik J., Umar F.,
RA Robertson M., Reimherr F., Wender P.;
RT "Search for mutations in the beta 1 GABAA receptor subunit gene in patients
RT with schizophrenia.";
RL Am. J. Med. Genet. 54:12-20(1994).
RN [10]
RP INVOLVEMENT IN DEE45, AND VARIANT DEE45 SER-246.
RX PubMed=23934111; DOI=10.1038/nature12439;
RG Epi4K Consortium;
RG Epilepsy Phenome/Genome Project;
RA Allen A.S., Berkovic S.F., Cossette P., Delanty N., Dlugos D.,
RA Eichler E.E., Epstein M.P., Glauser T., Goldstein D.B., Han Y.,
RA Heinzen E.L., Hitomi Y., Howell K.B., Johnson M.R., Kuzniecky R.,
RA Lowenstein D.H., Lu Y.F., Madou M.R., Marson A.G., Mefford H.C.,
RA Esmaeeli Nieh S., O'Brien T.J., Ottman R., Petrovski S., Poduri A.,
RA Ruzzo E.K., Scheffer I.E., Sherr E.H., Yuskaitis C.J., Abou-Khalil B.,
RA Alldredge B.K., Bautista J.F., Berkovic S.F., Boro A., Cascino G.D.,
RA Consalvo D., Crumrine P., Devinsky O., Dlugos D., Epstein M.P., Fiol M.,
RA Fountain N.B., French J., Friedman D., Geller E.B., Glauser T., Glynn S.,
RA Haut S.R., Hayward J., Helmers S.L., Joshi S., Kanner A., Kirsch H.E.,
RA Knowlton R.C., Kossoff E.H., Kuperman R., Kuzniecky R., Lowenstein D.H.,
RA McGuire S.M., Motika P.V., Novotny E.J., Ottman R., Paolicchi J.M.,
RA Parent J.M., Park K., Poduri A., Scheffer I.E., Shellhaas R.A., Sherr E.H.,
RA Shih J.J., Singh R., Sirven J., Smith M.C., Sullivan J., Lin Thio L.,
RA Venkat A., Vining E.P., Von Allmen G.K., Weisenberg J.L., Widdess-Walsh P.,
RA Winawer M.R.;
RT "De novo mutations in epileptic encephalopathies.";
RL Nature 501:217-221(2013).
RN [11]
RP VARIANT DEE45 ILE-287.
RX PubMed=27273810; DOI=10.1002/ana.24699;
RA Lien E., Vaatevik A.K., Oestern R., Haukanes B.I., Houge G.;
RT "A second patient with a de novo GABRB1 mutation and epileptic
RT encephalopathy.";
RL Ann. Neurol. 80:311-312(2016).
RN [12]
RP CHARACTERIZATION OF VARIANT DEE45 SER-246, FUNCTION, AND SUBCELLULAR
RP LOCATION.
RX PubMed=26950270; DOI=10.1002/ana.24631;
RA Janve V.S., Hernandez C.C., Verdier K.M., Hu N., Macdonald R.L.;
RT "Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor
RT function.";
RL Ann. Neurol. 79:806-825(2016).
CC -!- FUNCTION: Component of the heteropentameric receptor for GABA, the
CC major inhibitory neurotransmitter in the vertebrate brain. Functions
CC also as histamine receptor and mediates cellular responses to
CC histamine. Functions as receptor for diazepines and various
CC anesthetics, such as pentobarbital; these are bound at a separate
CC allosteric effector binding site. Functions as ligand-gated chloride
CC channel. {ECO:0000269|PubMed:26950270}.
CC -!- SUBUNIT: Binds UBQLN1 (By similarity). Heteropentamer, formed by a
CC combination of alpha, beta, gamma, delta and rho chains. Interacts with
CC KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology
CC and kinetics of the receptor response, the KCTD proteins markedly
CC accelerating the GABA-B response, although to different extents (By
CC similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Postsynaptic cell membrane
CC {ECO:0000250|UniProtKB:P50571}; Multi-pass membrane protein
CC {ECO:0000250|UniProtKB:P50571}. Cell membrane
CC {ECO:0000269|PubMed:26950270}; Multi-pass membrane protein
CC {ECO:0000250|UniProtKB:P50571}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P18505-1; Sequence=Displayed;
CC Name=2; Synonyms=B;
CC IsoId=P18505-2; Sequence=VSP_055900, VSP_055901;
CC -!- DISEASE: Developmental and epileptic encephalopathy 45 (DEE45)
CC [MIM:617153]: A form of epileptic encephalopathy, a heterogeneous group
CC of severe early-onset epilepsies characterized by refractory seizures,
CC neurodevelopmental impairment, and poor prognosis. Development is
CC normal prior to seizure onset, after which cognitive and motor delays
CC become apparent. {ECO:0000269|PubMed:23934111,
CC ECO:0000269|PubMed:26950270, ECO:0000269|PubMed:27273810}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family.
CC Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB1 sub-
CC subfamily. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue 56
CC of March 2005;
CC URL="https://web.expasy.org/spotlight/back_issues/056";
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DR EMBL; X14767; CAA32875.1; -; mRNA.
DR EMBL; M59216; AAA35862.1; -; Genomic_DNA.
DR EMBL; M59212; AAA35862.1; JOINED; Genomic_DNA.
DR EMBL; M59214; AAA35862.1; JOINED; Genomic_DNA.
DR EMBL; M59215; AAA35862.1; JOINED; Genomic_DNA.
DR EMBL; KJ535054; AHW56693.1; -; mRNA.
DR EMBL; AK312720; BAG35594.1; -; mRNA.
DR EMBL; AC097712; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105394; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC107383; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC107392; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471069; EAW93031.1; -; Genomic_DNA.
DR EMBL; BC022449; AAH22449.1; -; mRNA.
DR EMBL; S70733; AAB30712.1; -; mRNA.
DR CCDS; CCDS3474.1; -. [P18505-1]
DR PIR; A40336; A40336.
DR RefSeq; NP_000803.2; NM_000812.3. [P18505-1]
DR AlphaFoldDB; P18505; -.
DR SMR; P18505; -.
DR BioGRID; 108834; 5.
DR IntAct; P18505; 5.
DR STRING; 9606.ENSP00000295454; -.
DR BindingDB; P18505; -.
DR ChEMBL; CHEMBL4558; -.
DR DrugBank; DB12537; 1,2-Benzodiazepine.
DR DrugBank; DB00546; Adinazolam.
DR DrugBank; DB00404; Alprazolam.
DR DrugBank; DB00543; Amoxapine.
DR DrugBank; DB11901; Apalutamide.
DR DrugBank; DB14719; Bentazepam.
DR DrugBank; DB11859; Brexanolone.
DR DrugBank; DB01558; Bromazepam.
DR DrugBank; DB09017; Brotizolam.
DR DrugBank; DB00237; Butabarbital.
DR DrugBank; DB00241; Butalbital.
DR DrugBank; DB01489; Camazepam.
DR DrugBank; DB00475; Chlordiazepoxide.
DR DrugBank; DB14715; Cinazepam.
DR DrugBank; DB01594; Cinolazepam.
DR DrugBank; DB00349; Clobazam.
DR DrugBank; DB01068; Clonazepam.
DR DrugBank; DB00628; Clorazepic acid.
DR DrugBank; DB01559; Clotiazepam.
DR DrugBank; DB01553; Cloxazolam.
DR DrugBank; DB01511; Delorazepam.
DR DrugBank; DB01189; Desflurane.
DR DrugBank; DB00829; Diazepam.
DR DrugBank; DB13837; Doxefazepam.
DR DrugBank; DB00228; Enflurane.
DR DrugBank; DB01215; Estazolam.
DR DrugBank; DB00402; Eszopiclone.
DR DrugBank; DB00898; Ethanol.
DR DrugBank; DB00189; Ethchlorvynol.
DR DrugBank; DB01545; Ethyl loflazepate.
DR DrugBank; DB09166; Etizolam.
DR DrugBank; DB00292; Etomidate.
DR DrugBank; DB01567; Fludiazepam.
DR DrugBank; DB01205; Flumazenil.
DR DrugBank; DB01544; Flunitrazepam.
DR DrugBank; DB00690; Flurazepam.
DR DrugBank; DB01440; gamma-Hydroxybutyric acid.
DR DrugBank; DB01437; Glutethimide.
DR DrugBank; DB00801; Halazepam.
DR DrugBank; DB01159; Halothane.
DR DrugBank; DB00753; Isoflurane.
DR DrugBank; DB01587; Ketazolam.
DR DrugBank; DB00555; Lamotrigine.
DR DrugBank; DB00431; Lindane.
DR DrugBank; DB13643; Loprazolam.
DR DrugBank; DB00186; Lorazepam.
DR DrugBank; DB13872; Lormetazepam.
DR DrugBank; DB13437; Medazepam.
DR DrugBank; DB00603; Medroxyprogesterone acetate.
DR DrugBank; DB01043; Memantine.
DR DrugBank; DB00371; Meprobamate.
DR DrugBank; DB00463; Metharbital.
DR DrugBank; DB01028; Methoxyflurane.
DR DrugBank; DB01107; Methyprylon.
DR DrugBank; DB15489; Mexazolam.
DR DrugBank; DB00683; Midazolam.
DR DrugBank; DB01595; Nitrazepam.
DR DrugBank; DB14028; Nordazepam.
DR DrugBank; DB00842; Oxazepam.
DR DrugBank; DB14672; Oxazepam acetate.
DR DrugBank; DB00312; Pentobarbital.
DR DrugBank; DB00252; Phenytoin.
DR DrugBank; DB13335; Pinazepam.
DR DrugBank; DB01708; Prasterone.
DR DrugBank; DB01588; Prazepam.
DR DrugBank; DB00794; Primidone.
DR DrugBank; DB00818; Propofol.
DR DrugBank; DB01589; Quazepam.
DR DrugBank; DB12404; Remimazolam.
DR DrugBank; DB01236; Sevoflurane.
DR DrugBank; DB09118; Stiripentol.
DR DrugBank; DB00306; Talbutal.
DR DrugBank; DB01956; Taurine.
DR DrugBank; DB00231; Temazepam.
DR DrugBank; DB11582; Thiocolchicoside.
DR DrugBank; DB00897; Triazolam.
DR DrugCentral; P18505; -.
DR GlyGen; P18505; 2 sites.
DR iPTMnet; P18505; -.
DR PhosphoSitePlus; P18505; -.
DR BioMuta; GABRB1; -.
DR DMDM; 23831128; -.
DR MassIVE; P18505; -.
DR PaxDb; P18505; -.
DR PeptideAtlas; P18505; -.
DR PRIDE; P18505; -.
DR ProteomicsDB; 53568; -. [P18505-1]
DR ABCD; P18505; 1 sequenced antibody.
DR Antibodypedia; 12048; 459 antibodies from 40 providers.
DR DNASU; 2560; -.
DR Ensembl; ENST00000295454.8; ENSP00000295454.3; ENSG00000163288.14. [P18505-1]
DR Ensembl; ENST00000510909.1; ENSP00000426766.1; ENSG00000163288.14. [P18505-2]
DR GeneID; 2560; -.
DR KEGG; hsa:2560; -.
DR MANE-Select; ENST00000295454.8; ENSP00000295454.3; NM_000812.4; NP_000803.2.
DR UCSC; uc062wjg.1; human. [P18505-1]
DR CTD; 2560; -.
DR DisGeNET; 2560; -.
DR GeneCards; GABRB1; -.
DR HGNC; HGNC:4081; GABRB1.
DR HPA; ENSG00000163288; Tissue enriched (brain).
DR MalaCards; GABRB1; -.
DR MIM; 137190; gene.
DR MIM; 617153; phenotype.
DR neXtProt; NX_P18505; -.
DR OpenTargets; ENSG00000163288; -.
DR PharmGKB; PA28495; -.
DR VEuPathDB; HostDB:ENSG00000163288; -.
DR eggNOG; KOG3643; Eukaryota.
DR GeneTree; ENSGT00940000154245; -.
DR HOGENOM; CLU_010920_0_2_1; -.
DR InParanoid; P18505; -.
DR OMA; QTYMPSN; -.
DR PhylomeDB; P18505; -.
DR TreeFam; TF315453; -.
DR PathwayCommons; P18505; -.
DR Reactome; R-HSA-1236394; Signaling by ERBB4.
DR Reactome; R-HSA-977443; GABA receptor activation.
DR SignaLink; P18505; -.
DR SIGNOR; P18505; -.
DR BioGRID-ORCS; 2560; 9 hits in 1075 CRISPR screens.
DR ChiTaRS; GABRB1; human.
DR GeneWiki; GABRB1; -.
DR GenomeRNAi; 2560; -.
DR Pharos; P18505; Tclin.
DR PRO; PR:P18505; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; P18505; protein.
DR Bgee; ENSG00000163288; Expressed in Brodmann (1909) area 23 and 124 other tissues.
DR ExpressionAtlas; P18505; baseline and differential.
DR Genevisible; P18505; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0030425; C:dendrite; IEA:Ensembl.
DR GO; GO:1902711; C:GABA-A receptor complex; IDA:UniProtKB.
DR GO; GO:0098982; C:GABA-ergic synapse; IEA:Ensembl.
DR GO; GO:0005887; C:integral component of plasma membrane; ISS:UniProtKB.
DR GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR GO; GO:0005635; C:nuclear envelope; IEA:Ensembl.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0045202; C:synapse; IBA:GO_Central.
DR GO; GO:0005231; F:excitatory extracellular ligand-gated ion channel activity; IBA:GO_Central.
DR GO; GO:0050811; F:GABA receptor binding; IEA:Ensembl.
DR GO; GO:0004890; F:GABA-A receptor activity; ISS:UniProtKB.
DR GO; GO:0022851; F:GABA-gated chloride ion channel activity; IDA:GO_Central.
DR GO; GO:0015276; F:ligand-gated ion channel activity; ISS:UniProtKB.
DR GO; GO:0030594; F:neurotransmitter receptor activity; IBA:GO_Central.
DR GO; GO:1904315; F:transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential; IBA:GO_Central.
DR GO; GO:0071420; P:cellular response to histamine; ISS:UniProtKB.
DR GO; GO:0021954; P:central nervous system neuron development; IEA:Ensembl.
DR GO; GO:0007268; P:chemical synaptic transmission; IBA:GO_Central.
DR GO; GO:1902476; P:chloride transmembrane transport; IDA:GO_Central.
DR GO; GO:0007214; P:gamma-aminobutyric acid signaling pathway; IMP:UniProtKB.
DR GO; GO:0034220; P:ion transmembrane transport; IBA:GO_Central.
DR GO; GO:0006811; P:ion transport; ISS:UniProtKB.
DR GO; GO:0050877; P:nervous system process; IBA:GO_Central.
DR GO; GO:0042698; P:ovulation cycle; IEA:Ensembl.
DR GO; GO:0042391; P:regulation of membrane potential; IBA:GO_Central.
DR GO; GO:0032570; P:response to progesterone; IEA:Ensembl.
DR GO; GO:0009636; P:response to toxic substance; IEA:Ensembl.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR Gene3D; 1.20.58.390; -; 1.
DR Gene3D; 2.70.170.10; -; 1.
DR InterPro; IPR006028; GABAA/Glycine_rcpt.
DR InterPro; IPR002289; GABAAb_rcpt.
DR InterPro; IPR006202; Neur_chan_lig-bd.
DR InterPro; IPR036734; Neur_chan_lig-bd_sf.
DR InterPro; IPR006201; Neur_channel.
DR InterPro; IPR036719; Neuro-gated_channel_TM_sf.
DR InterPro; IPR038050; Neuro_actylchol_rec.
DR InterPro; IPR006029; Neurotrans-gated_channel_TM.
DR InterPro; IPR018000; Neurotransmitter_ion_chnl_CS.
DR PANTHER; PTHR18945; PTHR18945; 1.
DR Pfam; PF02931; Neur_chan_LBD; 1.
DR Pfam; PF02932; Neur_chan_memb; 1.
DR PRINTS; PR01160; GABAARBETA.
DR PRINTS; PR00253; GABAARECEPTR.
DR PRINTS; PR00252; NRIONCHANNEL.
DR SUPFAM; SSF63712; SSF63712; 1.
DR SUPFAM; SSF90112; SSF90112; 1.
DR TIGRFAMs; TIGR00860; LIC; 1.
DR PROSITE; PS00236; NEUROTR_ION_CHANNEL; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Chloride; Chloride channel;
KW Disease variant; Disulfide bond; Epilepsy; Glycoprotein; Ion channel;
KW Ion transport; Ligand-gated ion channel; Membrane;
KW Postsynaptic cell membrane; Receptor; Reference proteome; Signal; Synapse;
KW Transmembrane; Transmembrane helix; Transport.
FT SIGNAL 1..25
FT /evidence="ECO:0000255"
FT CHAIN 26..474
FT /note="Gamma-aminobutyric acid receptor subunit beta-1"
FT /id="PRO_0000000456"
FT TOPO_DOM 26..245
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 246..267
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TRANSMEM 271..293
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TRANSMEM 305..327
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TOPO_DOM 328..451
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 452..473
FT /note="Helical"
FT /evidence="ECO:0000305"
FT BINDING 120..122
FT /ligand="4-aminobutanoate"
FT /ligand_id="ChEBI:CHEBI:59888"
FT /ligand_note="agonist"
FT /evidence="ECO:0000250"
FT BINDING 180..182
FT /ligand="4-aminobutanoate"
FT /ligand_id="ChEBI:CHEBI:59888"
FT /ligand_note="agonist"
FT /evidence="ECO:0000250"
FT BINDING 225
FT /ligand="4-aminobutanoate"
FT /ligand_id="ChEBI:CHEBI:59888"
FT /ligand_note="agonist"
FT /evidence="ECO:0000250"
FT CARBOHYD 105
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 174
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 161..175
FT /evidence="ECO:0000250"
FT VAR_SEQ 59..87
FT /note="PPVDVGMRIDVASIDMVSEVNMDYTLTMY -> LYTHHVFPAVLERQKAFLF
FT WNPTEPHPRQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:24722188"
FT /id="VSP_055900"
FT VAR_SEQ 88..474
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:24722188"
FT /id="VSP_055901"
FT VARIANT 246
FT /note="F -> S (in DEE45; no effect on localization to the
FT plasma membrane; increased GABA-gated chloride ion channel
FT activity; increased single channel burst duration;
FT dbSNP:rs886039817)"
FT /evidence="ECO:0000269|PubMed:23934111,
FT ECO:0000269|PubMed:26950270"
FT /id="VAR_077104"
FT VARIANT 287
FT /note="T -> I (in DEE45; dbSNP:rs886039818)"
FT /evidence="ECO:0000269|PubMed:27273810"
FT /id="VAR_077105"
FT VARIANT 421
FT /note="H -> Q (found in 1.1% of population and in some
FT schizophrenic patients; dbSNP:rs41311286)"
FT /evidence="ECO:0000269|PubMed:8178835"
FT /id="VAR_000302"
FT VARIANT 429
FT /note="I -> N (in dbSNP:rs17852014)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_035441"
FT CONFLICT 35
FT /note="S -> P (in Ref. 1; CAA32875)"
FT /evidence="ECO:0000305"
FT CONFLICT 117
FT /note="W -> C (in Ref. 7; AAH22449)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 474 AA; 54235 MW; 05DA70F6FCD04E54 CRC64;
MWTVQNRESL GLLSFPVMIT MVCCAHSTNE PSNMSYVKET VDRLLKGYDI RLRPDFGGPP
VDVGMRIDVA SIDMVSEVNM DYTLTMYFQQ SWKDKRLSYS GIPLNLTLDN RVADQLWVPD
TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE
SYGYTTDDIE FYWNGGEGAV TGVNKIELPQ FSIVDYKMVS KKVEFTTGAY PRLSLSFRLK
RNIGYFILQT YMPSTLITIL SWVSFWINYD ASAARVALGI TTVLTMTTIS THLRETLPKI
PYVKAIDIYL MGCFVFVFLA LLEYAFVNYI FFGKGPQKKG ASKQDQSANE KNKLEMNKVQ
VDAHGNILLS TLEIRNETSG SEVLTSVSDP KATMYSYDSA SIQYRKPLSS REAYGRALDR
HGVPSKGRIR RRASQLKVKI PDLTDVNSID KWSRMFFPIT FSLFNVVYWL YYVH
