ID GBRP_HUMAN Reviewed; 440 AA. AC O00591; A8KA36; D3DQL2; Q32MJ1; DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot. DT 01-JUL-1997, sequence version 1. DT 27-MAR-2024, entry version 186. DE RecName: Full=Gamma-aminobutyric acid receptor subunit pi; DE AltName: Full=GABA(A) receptor subunit pi; DE Flags: Precursor; GN Name=GABRP; 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]. RX PubMed=9182563; DOI=10.1074/jbc.272.24.15346; RA Hedblom E., Kirkness E.F.; RT "A novel class of GABAA receptor subunit in tissues of the reproductive RT system."; RL J. Biol. Chem. 272:15346-15350(1997). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RA Johnson E.K., Hedblom E., Kirkness E.F.; RT "Structure and localization of the gene encoding the human GABA-A receptor RT pi subunit (GABRP)."; RL Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Trachea; 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 [4] 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-391. RC TISSUE=Lung; 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 [6] RP VARIANT [LARGE SCALE ANALYSIS] ARG-416. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., RA Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal cancers."; RL Science 314:268-274(2006). 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 In the uterus, the function of the receptor appears to be related to CC tissue contractility. The binding of this pI subunit with other GABA(A) CC receptor subunits alters the sensitivity of recombinant receptors to CC modulatory agents such as pregnanolone. CC -!- SUBUNIT: Generally pentameric. There are five types of GABA(A) receptor CC chains: alpha, beta, gamma, delta, and epsilon. A sixth class of CC subunit: Rho form homomeric GABA receptors that do not appear to CC coexist with GABA(A) receptor subunits but with GABA(C) receptor CC subunits. Subunit Pi can also bind this complex. CC -!- SUBCELLULAR LOCATION: Postsynaptic cell membrane; Multi-pass membrane CC protein. Cell membrane; Multi-pass membrane protein. CC -!- TISSUE SPECIFICITY: Most abundant in the uterus, also expressed in CC lung, thymus and prostate. 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. GABRP sub- CC subfamily. {ECO:0000305}. 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; U95367; AAC51357.1; -; mRNA. DR EMBL; AF009702; AAC24194.1; -; Genomic_DNA. DR EMBL; AF009694; AAC24194.1; JOINED; Genomic_DNA. DR EMBL; AF009695; AAC24194.1; JOINED; Genomic_DNA. DR EMBL; AF009696; AAC24194.1; JOINED; Genomic_DNA. DR EMBL; AF009697; AAC24194.1; JOINED; Genomic_DNA. DR EMBL; AF009698; AAC24194.1; JOINED; Genomic_DNA. DR EMBL; AF009699; AAC24194.1; JOINED; Genomic_DNA. DR EMBL; AF009700; AAC24194.1; JOINED; Genomic_DNA. DR EMBL; AF009701; AAC24194.1; JOINED; Genomic_DNA. DR EMBL; AK292901; BAF85590.1; -; mRNA. DR EMBL; CH471062; EAW61467.1; -; Genomic_DNA. DR EMBL; CH471062; EAW61468.1; -; Genomic_DNA. DR EMBL; BC074810; AAH74810.1; -; mRNA. DR EMBL; BC074865; AAH74865.1; -; mRNA. DR EMBL; BC109105; AAI09106.1; -; mRNA. DR EMBL; BC109106; AAI09107.1; -; mRNA. DR CCDS; CCDS4375.1; -. DR RefSeq; NP_001278914.1; NM_001291985.1. DR RefSeq; NP_055026.1; NM_014211.2. DR AlphaFoldDB; O00591; -. DR SMR; O00591; -. DR BioGRID; 108842; 1. DR STRING; 9606.ENSP00000430100; -. DR ChEMBL; CHEMBL2093872; -. 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; 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; 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; O00591; -. DR GlyCosmos; O00591; 5 sites, No reported glycans. DR GlyGen; O00591; 5 sites. DR iPTMnet; O00591; -. DR PhosphoSitePlus; O00591; -. DR BioMuta; GABRP; -. DR jPOST; O00591; -. DR MassIVE; O00591; -. DR MaxQB; O00591; -. DR PaxDb; 9606-ENSP00000430100; -. DR PeptideAtlas; O00591; -. DR ABCD; O00591; 2 sequenced antibodies. DR Antibodypedia; 4442; 108 antibodies from 20 providers. DR DNASU; 2568; -. DR Ensembl; ENST00000265294.9; ENSP00000265294.4; ENSG00000094755.17. DR Ensembl; ENST00000518525.5; ENSP00000430100.1; ENSG00000094755.17. DR GeneID; 2568; -. DR KEGG; hsa:2568; -. DR MANE-Select; ENST00000265294.9; ENSP00000265294.4; NM_014211.3; NP_055026.1. DR UCSC; uc003mau.4; human. DR AGR; HGNC:4089; -. DR CTD; 2568; -. DR DisGeNET; 2568; -. DR GeneCards; GABRP; -. DR HGNC; HGNC:4089; GABRP. DR HPA; ENSG00000094755; Tissue enhanced (breast, esophagus). DR MIM; 602729; gene. DR neXtProt; NX_O00591; -. DR OpenTargets; ENSG00000094755; -. DR PharmGKB; PA28503; -. DR VEuPathDB; HostDB:ENSG00000094755; -. DR eggNOG; KOG3643; Eukaryota. DR GeneTree; ENSGT00940000160813; -. DR HOGENOM; CLU_010920_0_1_1; -. DR InParanoid; O00591; -. DR OMA; TTVTCNM; -. DR OrthoDB; 4265336at2759; -. DR PhylomeDB; O00591; -. DR TreeFam; TF315453; -. DR PathwayCommons; O00591; -. DR BioGRID-ORCS; 2568; 13 hits in 1154 CRISPR screens. DR ChiTaRS; GABRP; human. DR GeneWiki; GABRP; -. DR GenomeRNAi; 2568; -. DR Pharos; O00591; Tclin. DR PRO; PR:O00591; -. DR Proteomes; UP000005640; Chromosome 5. DR RNAct; O00591; Protein. DR Bgee; ENSG00000094755; Expressed in nasal cavity epithelium and 120 other cell types or tissues. DR ExpressionAtlas; O00591; baseline and differential. DR GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW. 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:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell. DR GO; GO:0045202; C:synapse; IBA:GO_Central. DR GO; GO:0005254; F:chloride channel activity; IEA:UniProtKB-KW. DR GO; GO:0005230; F:extracellular ligand-gated monoatomic ion channel activity; IEA:InterPro. DR GO; GO:0004890; F:GABA-A receptor activity; TAS:ProtInc. DR GO; GO:0030594; F:neurotransmitter receptor activity; IBA:GO_Central. DR GO; GO:1902476; P:chloride transmembrane transport; IBA:GO_Central. DR CDD; cd19058; LGIC_TM_GABAAR_pi; 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; IPR008100; GABAAp_rcpt. DR InterPro; IPR047032; GABAAR_pi_TM. 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:SF33; GAMMA-AMINOBUTYRIC ACID RECEPTOR SUBUNIT PI; 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; PR01724; GABAARPI. 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; O00591; HS. PE 2: Evidence at transcript level; KW Cell membrane; Chloride; Chloride channel; Disulfide bond; Glycoprotein; KW Ion channel; Ion transport; Membrane; Postsynaptic cell membrane; KW Reference proteome; Signal; Synapse; Transmembrane; Transmembrane helix; KW Transport. FT SIGNAL 1..16 FT /evidence="ECO:0000255" FT CHAIN 17..440 FT /note="Gamma-aminobutyric acid receptor subunit pi" FT /id="PRO_0000000492" FT TOPO_DOM 17..242 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 243..266 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 270..292 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 305..327 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 328..416 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 417..438 FT /note="Helical" FT /evidence="ECO:0000255" FT CARBOHYD 43 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 102 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 145 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 196 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 228 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT DISULFID 160..174 FT /evidence="ECO:0000250" FT VARIANT 391 FT /note="F -> L (in dbSNP:rs1063310)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_020323" FT VARIANT 416 FT /note="H -> R (in a breast cancer sample; somatic mutation; FT dbSNP:rs1290926314)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_036034" SQ SEQUENCE 440 AA; 50640 MW; 92CA66C264560718 CRC64; MNYSLHLAFV CLSLFTERMC IQGSQFNVEV GRSDKLSLPG FENLTAGYNK FLRPNFGGEP VQIALTLDIA SISSISESNM DYTATIYLRQ RWMDQRLVFE GNKSFTLDAR LVEFLWVPDT YIVESKKSFL HEVTVGNRLI RLFSNGTVLY ALRITTTVAC NMDLSKYPMD TQTCKLQLES WGYDGNDVEF TWLRGNDSVR GLEHLRLAQY TIERYFTLVT RSQQETGNYT RLVLQFELRR NVLYFILETY VPSTFLVVLS WVSFWISLDS VPARTCIGVT TVLSMTTLMI GSRTSLPNTN CFIKAIDVYL GICFSFVFGA LLEYAVAHYS SLQQMAAKDR GTTKEVEEVS ITNIINSSIS SFKRKISFAS IEISSDNVDY SDLTMKTSDK FKFVFREKMG RIVDYFTIQN PSNVDHYSKL LFPLIFMLAN VFYWAYYMYF //