ID GBRG1_HUMAN Reviewed; 465 AA. AC Q8N1C3; Q5H9T8; DT 17-JAN-2003, integrated into UniProtKB/Swiss-Prot. DT 14-OCT-2008, sequence version 2. DT 24-JAN-2024, entry version 180. DE RecName: Full=Gamma-aminobutyric acid receptor subunit gamma-1; DE AltName: Full=GABA(A) receptor subunit gamma-1; DE Flags: Precursor; GN Name=GABRG1; 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 [LARGE SCALE MRNA]. 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 [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Amygdala; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., RA Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [3] 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 [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLU-403. 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). CC -!- FUNCTION: GABA, the major inhibitory neurotransmitter in the vertebrate CC brain, mediates neuronal inhibition by binding to the CC GABA/benzodiazepine receptor and opening an integral chloride channel. CC -!- SUBUNIT: Generally pentameric. There are five types of GABA(A) receptor CC chains: alpha, beta, gamma, delta, and rho. CC -!- INTERACTION: CC Q8N1C3; Q96CV9: OPTN; NbExp=3; IntAct=EBI-21747962, EBI-748974; CC -!- SUBCELLULAR LOCATION: Postsynaptic cell membrane; Multi-pass membrane CC protein. Cell membrane; Multi-pass membrane protein. CC -!- PTM: May be palmitoylated. {ECO:0000250}. CC -!- MISCELLANEOUS: This subunit carries the benzodiazepine binding site. 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. GABRG1 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"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AK122845; BAG53758.1; -; mRNA. DR EMBL; CR933628; CAI45936.1; -; mRNA. DR EMBL; CH471069; EAW93021.1; -; Genomic_DNA. DR EMBL; BC031087; AAH31087.1; -; mRNA. DR CCDS; CCDS3470.1; -. DR RefSeq; NP_775807.2; NM_173536.3. DR AlphaFoldDB; Q8N1C3; -. DR SMR; Q8N1C3; -. DR BioGRID; 108839; 1. DR IntAct; Q8N1C3; 2. DR STRING; 9606.ENSP00000295452; -. DR ChEMBL; CHEMBL2093872; -. DR ChEMBL; CHEMBL2109243; -. DR DrugBank; DB12537; 1,2-Benzodiazepine. DR DrugBank; DB00546; Adinazolam. DR DrugBank; DB06579; Adipiplon. 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; DB05087; Ganaxolone. 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; 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; DB00334; Olanzapine. 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 DrugBank; DB00909; Zonisamide. DR DrugCentral; Q8N1C3; -. DR GlyCosmos; Q8N1C3; 3 sites, No reported glycans. DR GlyGen; Q8N1C3; 3 sites. DR iPTMnet; Q8N1C3; -. DR PhosphoSitePlus; Q8N1C3; -. DR BioMuta; GABRG1; -. DR DMDM; 209572630; -. DR MassIVE; Q8N1C3; -. DR PaxDb; 9606-ENSP00000295452; -. DR PeptideAtlas; Q8N1C3; -. DR ProteomicsDB; 71585; -. DR Antibodypedia; 23729; 168 antibodies from 27 providers. DR DNASU; 2565; -. DR Ensembl; ENST00000295452.5; ENSP00000295452.4; ENSG00000163285.8. DR GeneID; 2565; -. DR KEGG; hsa:2565; -. DR MANE-Select; ENST00000295452.5; ENSP00000295452.4; NM_173536.4; NP_775807.2. DR UCSC; uc003gxb.4; human. DR AGR; HGNC:4086; -. DR CTD; 2565; -. DR DisGeNET; 2565; -. DR GeneCards; GABRG1; -. DR HGNC; HGNC:4086; GABRG1. DR HPA; ENSG00000163285; Tissue enriched (brain). DR MIM; 137166; gene. DR neXtProt; NX_Q8N1C3; -. DR OpenTargets; ENSG00000163285; -. DR PharmGKB; PA28500; -. DR VEuPathDB; HostDB:ENSG00000163285; -. DR eggNOG; KOG3642; Eukaryota. DR GeneTree; ENSGT00940000160193; -. DR HOGENOM; CLU_010920_2_0_1; -. DR InParanoid; Q8N1C3; -. DR OMA; GMRNTTD; -. DR OrthoDB; 4265336at2759; -. DR PhylomeDB; Q8N1C3; -. DR TreeFam; TF315453; -. DR PathwayCommons; Q8N1C3; -. DR SignaLink; Q8N1C3; -. DR BioGRID-ORCS; 2565; 18 hits in 1169 CRISPR screens. DR ChiTaRS; GABRG1; human. DR GeneWiki; GABRG1; -. DR GenomeRNAi; 2565; -. DR Pharos; Q8N1C3; Tclin. DR PRO; PR:Q8N1C3; -. DR Proteomes; UP000005640; Chromosome 4. DR RNAct; Q8N1C3; Protein. DR Bgee; ENSG00000163285; Expressed in medial globus pallidus and 62 other cell types or tissues. DR GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW. DR GO; GO:0032590; C:dendrite membrane; IBA:GO_Central. DR GO; GO:1902711; C:GABA-A receptor complex; IBA:GO_Central. DR GO; GO:0043005; C:neuron projection; IBA:GO_Central. DR GO; GO:0005886; C:plasma membrane; IDA:HPA. DR GO; GO:0098794; C:postsynapse; IBA:GO_Central. DR GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell. DR GO; GO:0045202; C:synapse; IBA:GO_Central. DR GO; GO:0050811; F:GABA receptor binding; IEA:Ensembl. DR GO; GO:0004890; F:GABA-A receptor activity; IEA:Ensembl. DR GO; GO:0022851; F:GABA-gated chloride ion channel activity; IBA:GO_Central. DR GO; GO:0005237; F:inhibitory extracellular ligand-gated monoatomic ion channel activity; IBA:GO_Central. DR GO; GO:1902476; P:chloride transmembrane transport; IBA:GO_Central. DR GO; GO:0007214; P:gamma-aminobutyric acid signaling pathway; IBA:GO_Central. DR GO; GO:0060078; P:regulation of postsynaptic membrane potential; IBA:GO_Central. DR GO; GO:0051932; P:synaptic transmission, GABAergic; IBA:GO_Central. DR CDD; cd19000; LGIC_ECD_GABAAR_G; 1. DR CDD; cd19054; LGIC_TM_GABAAR_gamma; 1. DR Gene3D; 2.70.170.10; Neurotransmitter-gated ion-channel ligand-binding domain; 1. DR Gene3D; 1.20.58.390; Neurotransmitter-gated ion-channel transmembrane domain; 1. DR InterPro; IPR006028; GABAA/Glycine_rcpt. DR InterPro; IPR005438; GABBAg1_rcpt. DR InterPro; IPR005437; GABRG-1/4. 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 NCBIfam; TIGR00860; LIC; 1. DR PANTHER; PTHR18945:SF93; GAMMA-AMINOBUTYRIC ACID RECEPTOR SUBUNIT GAMMA-1; 1. DR PANTHER; PTHR18945; NEUROTRANSMITTER GATED ION CHANNEL; 1. DR Pfam; PF02931; Neur_chan_LBD; 1. DR Pfam; PF02932; Neur_chan_memb; 1. DR PRINTS; PR00253; GABAARECEPTR. DR PRINTS; PR01620; GABAARGAMMA. DR PRINTS; PR01621; GABAARGAMMA1. DR PRINTS; PR00252; NRIONCHANNEL. DR SUPFAM; SSF90112; Neurotransmitter-gated ion-channel transmembrane pore; 1. DR SUPFAM; SSF63712; Nicotinic receptor ligand binding domain-like; 1. DR PROSITE; PS00236; NEUROTR_ION_CHANNEL; 1. DR Genevisible; Q8N1C3; HS. PE 1: Evidence at protein level; KW Cell membrane; Chloride; Chloride channel; Disulfide bond; Glycoprotein; KW Ion channel; Ion transport; Lipoprotein; Membrane; Palmitate; KW Postsynaptic cell membrane; Reference proteome; Signal; Synapse; KW Transmembrane; Transmembrane helix; Transport. FT SIGNAL 1..35 FT /evidence="ECO:0000255" FT CHAIN 36..465 FT /note="Gamma-aminobutyric acid receptor subunit gamma-1" FT /id="PRO_0000000473" FT TOPO_DOM 36..272 FT /note="Extracellular" FT /evidence="ECO:0000305" FT TRANSMEM 273..294 FT /note="Helical" FT /evidence="ECO:0000305" FT TRANSMEM 299..320 FT /note="Helical" FT /evidence="ECO:0000305" FT TRANSMEM 332..354 FT /note="Helical" FT /evidence="ECO:0000305" FT TOPO_DOM 355..444 FT /note="Cytoplasmic" FT /evidence="ECO:0000305" FT TRANSMEM 445..465 FT /note="Helical" FT /evidence="ECO:0000305" FT CARBOHYD 50 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 127 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 245 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT DISULFID 188..202 FT /evidence="ECO:0000250" FT VARIANT 403 FT /note="G -> E (in dbSNP:rs17852913)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_047056" SQ SEQUENCE 465 AA; 53595 MW; 6C322FF55704FA57 CRC64; MGPLKAFLFS PFLLRSQSRG VRLVFLLLTL HLGNCVDKAD DEDDEDLTVN KTWVLAPKIH EGDITQILNS LLQGYDNKLR PDIGVRPTVI ETDVYVNSIG PVDPINMEYT IDIIFAQTWF DSRLKFNSTM KVLMLNSNMV GKIWIPDTFF RNSRKSDAHW ITTPNRLLRI WNDGRVLYTL RLTINAECYL QLHNFPMDEH SCPLEFSSYG YPKNEIEYKW KKPSVEVADP KYWRLYQFAF VGLRNSTEIT HTISGDYVIM TIFFDLSRRM GYFTIQTYIP CILTVVLSWV SFWINKDAVP ARTSLGITTV LTMTTLSTIA RKSLPKVSYV TAMDLFVSVC FIFVFAALME YGTLHYFTSN QKGKTATKDR KLKNKASMTP GLHPGSTLIP MNNISVPQED DYGYQCLEGK DCASFFCCFE DCRTGSWREG RIHIRIAKID SYSRIFFPTA FALFNLVYWV GYLYL //