GBRP_HUMAN
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 03-AUG-2022, entry version 178.
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}.
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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; 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 GlyGen; O00591; 5 sites.
DR iPTMnet; O00591; -.
DR PhosphoSitePlus; O00591; -.
DR BioMuta; GABRP; -.
DR jPOST; O00591; -.
DR MassIVE; O00591; -.
DR MaxQB; O00591; -.
DR PaxDb; O00591; -.
DR PeptideAtlas; O00591; -.
DR PRIDE; O00591; -.
DR ProteomicsDB; 47991; -.
DR ABCD; O00591; 2 sequenced antibodies.
DR Antibodypedia; 4442; 99 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 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; 480926at2759; -.
DR PhylomeDB; O00591; -.
DR TreeFam; TF315453; -.
DR PathwayCommons; O00591; -.
DR BioGRID-ORCS; 2568; 11 hits in 1070 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 119 other tissues.
DR ExpressionAtlas; O00591; baseline and differential.
DR Genevisible; O00591; 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:1902711; C:GABA-A receptor complex; IBA:GO_Central.
DR GO; GO:0005887; C:integral component of plasma membrane; 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:0005231; F:excitatory extracellular ligand-gated ion channel activity; IBA:GO_Central.
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:1904315; F:transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential; IBA:GO_Central.
DR GO; GO:0007268; P:chemical synaptic transmission; IBA:GO_Central.
DR GO; GO:1902476; P:chloride transmembrane transport; IBA:GO_Central.
DR GO; GO:0034220; P:ion transmembrane transport; IBA:GO_Central.
DR GO; GO:0050877; P:nervous system process; IBA:GO_Central.
DR GO; GO:0042391; P:regulation of membrane potential; IBA:GO_Central.
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; IPR008100; GABAAp_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 PANTHER; PTHR18945:SF33; PTHR18945:SF33; 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; SSF63712; SSF63712; 1.
DR SUPFAM; SSF90112; SSF90112; 1.
DR TIGRFAMs; TIGR00860; LIC; 1.
DR PROSITE; PS00236; NEUROTR_ION_CHANNEL; 1.
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
