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   13-FEB-2019, entry version 159.
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;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; 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
RT   reproductive 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
RT   receptor 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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   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
RT   project: 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.,
RA   Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA   Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA   Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA   Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal
RT   cancers.";
RL   Science 314:268-274(2006).
CC   -!- FUNCTION: GABA, the major inhibitory neurotransmitter in the
CC       vertebrate brain, mediates neuronal inhibition by binding to the
CC       GABA/benzodiazepine receptor and opening an integral chloride
CC       channel. In the uterus, the function of the receptor appears to be
CC       related to tissue contractility. The binding of this pI subunit
CC       with other GABA(A) receptor subunits alters the sensitivity of
CC       recombinant receptors to modulatory agents such as pregnanolone.
CC   -!- SUBUNIT: Generally pentameric. There are five types of GABA(A)
CC       receptor chains: alpha, beta, gamma, delta, and epsilon. A sixth
CC       class of subunit: Rho form homomeric GABA receptors that do not
CC       appear to coexist with GABA(A) receptor subunits but with GABA(C)
CC       receptor subunits. Subunit Pi can also bind this complex.
CC   -!- SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell
CC       membrane; Multi-pass membrane protein. Cell membrane; Multi-pass
CC       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)
CC       family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily.
CC       GABRP sub-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   UniGene; Hs.26225; -.
DR   ProteinModelPortal; O00591; -.
DR   STRING; 9606.ENSP00000265294; -.
DR   ChEMBL; CHEMBL2093872; -.
DR   DrugBank; DB00659; Acamprosate.
DR   DrugBank; DB00546; Adinazolam.
DR   DrugBank; DB00404; Alprazolam.
DR   DrugBank; DB00543; Amoxapine.
DR   DrugBank; DB01558; Bromazepam.
DR   DrugBank; DB00237; Butabarbital.
DR   DrugBank; DB00241; Butalbital.
DR   DrugBank; DB00475; Chlordiazepoxide.
DR   DrugBank; DB01594; Cinolazepam.
DR   DrugBank; DB00349; Clobazam.
DR   DrugBank; DB01068; Clonazepam.
DR   DrugBank; DB00628; Clorazepate.
DR   DrugBank; DB01559; Clotiazepam.
DR   DrugBank; DB01189; Desflurane.
DR   DrugBank; DB00829; Diazepam.
DR   DrugBank; DB00228; Enflurane.
DR   DrugBank; DB01049; Ergoloid mesylate.
DR   DrugBank; DB01215; Estazolam.
DR   DrugBank; DB00402; Eszopiclone.
DR   DrugBank; DB00898; Ethanol.
DR   DrugBank; DB00189; Ethchlorvynol.
DR   DrugBank; DB00292; Etomidate.
DR   DrugBank; DB01567; Fludiazepam.
DR   DrugBank; DB01205; Flumazenil.
DR   DrugBank; DB00690; Flurazepam.
DR   DrugBank; DB01437; Glutethimide.
DR   DrugBank; DB00801; Halazepam.
DR   DrugBank; DB01159; Halothane.
DR   DrugBank; DB00753; Isoflurane.
DR   DrugBank; DB00186; Lorazepam.
DR   DrugBank; DB00371; Meprobamate.
DR   DrugBank; DB00463; Metharbital.
DR   DrugBank; DB01028; Methoxyflurane.
DR   DrugBank; DB01107; Methyprylon.
DR   DrugBank; DB00683; Midazolam.
DR   DrugBank; DB01595; Nitrazepam.
DR   DrugBank; DB00334; Olanzapine.
DR   DrugBank; DB00842; Oxazepam.
DR   DrugBank; DB00312; Pentobarbital.
DR   DrugBank; DB01708; Prasterone.
DR   DrugBank; DB01588; Prazepam.
DR   DrugBank; DB00794; Primidone.
DR   DrugBank; DB00818; Propofol.
DR   DrugBank; DB01589; Quazepam.
DR   DrugBank; DB01236; Sevoflurane.
DR   DrugBank; DB00306; Talbutal.
DR   DrugBank; DB00231; Temazepam.
DR   DrugBank; DB11582; Thiocolchicoside.
DR   DrugBank; DB00273; Topiramate.
DR   DrugBank; DB00897; Triazolam.
DR   iPTMnet; O00591; -.
DR   PhosphoSitePlus; O00591; -.
DR   BioMuta; GABRP; -.
DR   jPOST; O00591; -.
DR   MaxQB; O00591; -.
DR   PaxDb; O00591; -.
DR   PeptideAtlas; O00591; -.
DR   PRIDE; O00591; -.
DR   ProteomicsDB; 47991; -.
DR   Ensembl; ENST00000265294; ENSP00000265294; ENSG00000094755.
DR   Ensembl; ENST00000518525; ENSP00000430100; ENSG00000094755.
DR   GeneID; 2568; -.
DR   KEGG; hsa:2568; -.
DR   UCSC; uc003mau.4; human.
DR   CTD; 2568; -.
DR   DisGeNET; 2568; -.
DR   EuPathDB; HostDB:ENSG00000094755.16; -.
DR   GeneCards; GABRP; -.
DR   HGNC; HGNC:4089; GABRP.
DR   HPA; CAB014883; -.
DR   MIM; 602729; gene.
DR   neXtProt; NX_O00591; -.
DR   OpenTargets; ENSG00000094755; -.
DR   PharmGKB; PA28503; -.
DR   eggNOG; KOG3643; Eukaryota.
DR   eggNOG; ENOG410XPWH; LUCA.
DR   GeneTree; ENSGT00940000160813; -.
DR   HOGENOM; HOG000231335; -.
DR   HOVERGEN; HBG051707; -.
DR   InParanoid; O00591; -.
DR   KO; K05189; -.
DR   OMA; NDVEFSW; -.
DR   OrthoDB; 480926at2759; -.
DR   PhylomeDB; O00591; -.
DR   TreeFam; TF315453; -.
DR   ChiTaRS; GABRP; human.
DR   GeneWiki; GABRP; -.
DR   GenomeRNAi; 2568; -.
DR   PRO; PR:O00591; -.
DR   Proteomes; UP000005640; Chromosome 5.
DR   Bgee; ENSG00000094755; Expressed in 112 organ(s), highest expression level in nasal cavity epithelium.
DR   ExpressionAtlas; O00591; baseline and differential.
DR   Genevisible; O00591; HS.
DR   GO; GO:0030054; C:cell 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:0005230; F:extracellular ligand-gated ion channel activity; IEA:InterPro.
DR   GO; GO:0004890; F:GABA-A receptor activity; TAS:ProtInc.
DR   GO; GO:0007268; P:chemical synaptic transmission; 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; 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; 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 junction; Cell membrane; Chloride; Chloride channel;
KW   Complete proteome; Disulfide bond; Glycoprotein; Ion channel;
KW   Ion transport; Membrane; Polymorphism; Postsynaptic cell membrane;
KW   Reference proteome; Signal; Synapse; Transmembrane;
KW   Transmembrane helix; Transport.
FT   SIGNAL        1     16       {ECO:0000255}.
FT   CHAIN        17    440       Gamma-aminobutyric acid receptor subunit
FT                                pi.
FT                                /FTId=PRO_0000000492.
FT   TOPO_DOM     17    242       Extracellular. {ECO:0000255}.
FT   TRANSMEM    243    266       Helical. {ECO:0000255}.
FT   TRANSMEM    270    292       Helical. {ECO:0000255}.
FT   TRANSMEM    305    327       Helical. {ECO:0000255}.
FT   TOPO_DOM    328    416       Cytoplasmic. {ECO:0000255}.
FT   TRANSMEM    417    438       Helical. {ECO:0000255}.
FT   CARBOHYD     43     43       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    102    102       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    145    145       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    196    196       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    228    228       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   DISULFID    160    174       {ECO:0000250}.
FT   VARIANT     391    391       F -> L (in dbSNP:rs1063310).
FT                                {ECO:0000269|PubMed:15489334}.
FT                                /FTId=VAR_020323.
FT   VARIANT     416    416       H -> R (in a breast cancer sample;
FT                                somatic mutation; dbSNP:rs1290926314).
FT                                {ECO:0000269|PubMed:16959974}.
FT                                /FTId=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
//