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O00591

- GBRP_HUMAN

UniProt

O00591 - GBRP_HUMAN

Protein

Gamma-aminobutyric acid receptor subunit pi

Gene

GABRP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 1 (01 Jul 1997)
      Previous versions | rss
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    Functioni

    GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone.

    GO - Molecular functioni

    1. chloride channel activity Source: UniProtKB-KW
    2. extracellular ligand-gated ion channel activity Source: InterPro
    3. GABA-A receptor activity Source: ProtInc

    GO - Biological processi

    1. signal transduction Source: GOC

    Keywords - Molecular functioni

    Chloride channel, Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Chloride

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gamma-aminobutyric acid receptor subunit pi
    Alternative name(s):
    GABA(A) receptor subunit pi
    Gene namesi
    Name:GABRP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:4089. GABRP.

    Subcellular locationi

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. chloride channel complex Source: UniProtKB-KW
    3. postsynaptic membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28503.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1616Sequence AnalysisAdd
    BLAST
    Chaini17 – 440424Gamma-aminobutyric acid receptor subunit piPRO_0000000492Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi43 – 431N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi102 – 1021N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi145 – 1451N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi160 ↔ 174By similarity
    Glycosylationi196 – 1961N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi228 – 2281N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiO00591.
    PaxDbiO00591.
    PRIDEiO00591.

    PTM databases

    PhosphoSiteiO00591.

    Expressioni

    Tissue specificityi

    Most abundant in the uterus, also expressed in lung, thymus and prostate.

    Gene expression databases

    ArrayExpressiO00591.
    BgeeiO00591.
    CleanExiHS_GABRP.
    GenevestigatoriO00591.

    Organism-specific databases

    HPAiCAB014883.

    Interactioni

    Subunit structurei

    Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and epsilon. A sixth class of subunit: Rho form homomeric GABA receptors that do not appear to coexist with GABA(A) receptor subunits but with GABA(C) receptor subunits. Subunit Pi can also bind this complex.

    Protein-protein interaction databases

    STRINGi9606.ENSP00000265294.

    Structurei

    3D structure databases

    ProteinModelPortaliO00591.
    SMRiO00591. Positions 44-334.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini17 – 242226ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini328 – 41689CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei243 – 26624HelicalSequence AnalysisAdd
    BLAST
    Transmembranei270 – 29223HelicalSequence AnalysisAdd
    BLAST
    Transmembranei305 – 32723HelicalSequence AnalysisAdd
    BLAST
    Transmembranei417 – 43822HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG255582.
    HOGENOMiHOG000231335.
    HOVERGENiHBG051707.
    InParanoidiO00591.
    KOiK05189.
    OMAiNDVEFSW.
    PhylomeDBiO00591.
    TreeFamiTF315453.

    Family and domain databases

    Gene3Di2.70.170.10. 1 hit.
    InterProiIPR006028. GABAA/Glycine_rcpt.
    IPR008100. GABAAp_rcpt.
    IPR006202. Neur_chan_lig-bd.
    IPR006201. Neur_channel.
    IPR006029. Neurotrans-gated_channel_TM.
    IPR018000. Neurotransmitter_ion_chnl_CS.
    [Graphical view]
    PANTHERiPTHR18945. PTHR18945. 1 hit.
    PfamiPF02931. Neur_chan_LBD. 1 hit.
    PF02932. Neur_chan_memb. 1 hit.
    [Graphical view]
    PRINTSiPR00253. GABAARECEPTR.
    PR01724. GABAARPI.
    PR00252. NRIONCHANNEL.
    SUPFAMiSSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    TIGRFAMsiTIGR00860. LIC. 1 hit.
    PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    O00591-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNYSLHLAFV CLSLFTERMC IQGSQFNVEV GRSDKLSLPG FENLTAGYNK    50
    FLRPNFGGEP VQIALTLDIA SISSISESNM DYTATIYLRQ RWMDQRLVFE 100
    GNKSFTLDAR LVEFLWVPDT YIVESKKSFL HEVTVGNRLI RLFSNGTVLY 150
    ALRITTTVAC NMDLSKYPMD TQTCKLQLES WGYDGNDVEF TWLRGNDSVR 200
    GLEHLRLAQY TIERYFTLVT RSQQETGNYT RLVLQFELRR NVLYFILETY 250
    VPSTFLVVLS WVSFWISLDS VPARTCIGVT TVLSMTTLMI GSRTSLPNTN 300
    CFIKAIDVYL GICFSFVFGA LLEYAVAHYS SLQQMAAKDR GTTKEVEEVS 350
    ITNIINSSIS SFKRKISFAS IEISSDNVDY SDLTMKTSDK FKFVFREKMG 400
    RIVDYFTIQN PSNVDHYSKL LFPLIFMLAN VFYWAYYMYF 440
    Length:440
    Mass (Da):50,640
    Last modified:July 1, 1997 - v1
    Checksum:i92CA66C264560718
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti391 – 3911F → L.1 Publication
    Corresponds to variant rs1063310 [ dbSNP | Ensembl ].
    VAR_020323
    Natural varianti416 – 4161H → R in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036034

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U95367 mRNA. Translation: AAC51357.1.
    AF009702
    , AF009694, AF009695, AF009696, AF009697, AF009698, AF009699, AF009700, AF009701 Genomic DNA. Translation: AAC24194.1.
    AK292901 mRNA. Translation: BAF85590.1.
    CH471062 Genomic DNA. Translation: EAW61467.1.
    CH471062 Genomic DNA. Translation: EAW61468.1.
    BC074810 mRNA. Translation: AAH74810.1.
    BC074865 mRNA. Translation: AAH74865.1.
    BC109105 mRNA. Translation: AAI09106.1.
    BC109106 mRNA. Translation: AAI09107.1.
    CCDSiCCDS4375.1.
    RefSeqiNP_055026.1. NM_014211.2.
    UniGeneiHs.26225.

    Genome annotation databases

    EnsembliENST00000265294; ENSP00000265294; ENSG00000094755.
    ENST00000518525; ENSP00000430100; ENSG00000094755.
    GeneIDi2568.
    KEGGihsa:2568.
    UCSCiuc003mau.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U95367 mRNA. Translation: AAC51357.1 .
    AF009702
    , AF009694 , AF009695 , AF009696 , AF009697 , AF009698 , AF009699 , AF009700 , AF009701 Genomic DNA. Translation: AAC24194.1 .
    AK292901 mRNA. Translation: BAF85590.1 .
    CH471062 Genomic DNA. Translation: EAW61467.1 .
    CH471062 Genomic DNA. Translation: EAW61468.1 .
    BC074810 mRNA. Translation: AAH74810.1 .
    BC074865 mRNA. Translation: AAH74865.1 .
    BC109105 mRNA. Translation: AAI09106.1 .
    BC109106 mRNA. Translation: AAI09107.1 .
    CCDSi CCDS4375.1.
    RefSeqi NP_055026.1. NM_014211.2.
    UniGenei Hs.26225.

    3D structure databases

    ProteinModelPortali O00591.
    SMRi O00591. Positions 44-334.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000265294.

    Chemistry

    BindingDBi O00591.
    ChEMBLi CHEMBL2093872.
    DrugBanki DB00659. Acamprosate.
    DB00546. Adinazolam.
    DB00404. Alprazolam.
    DB00543. Amoxapine.
    DB01558. Bromazepam.
    DB00237. Butabarbital.
    DB00241. Butalbital.
    DB00475. Chlordiazepoxide.
    DB01594. Cinolazepam.
    DB00349. Clobazam.
    DB01068. Clonazepam.
    DB00628. Clorazepate.
    DB01559. Clotiazepam.
    DB01189. Desflurane.
    DB00829. Diazepam.
    DB00228. Enflurane.
    DB01049. Ergoloid mesylate.
    DB01215. Estazolam.
    DB00402. Eszopiclone.
    DB00189. Ethchlorvynol.
    DB00292. Etomidate.
    DB01567. Fludiazepam.
    DB01205. Flumazenil.
    DB00690. Flurazepam.
    DB01437. Glutethimide.
    DB00801. Halazepam.
    DB01159. Halothane.
    DB00753. Isoflurane.
    DB00186. Lorazepam.
    DB00371. Meprobamate.
    DB01028. Methoxyflurane.
    DB01107. Methyprylon.
    DB00683. Midazolam.
    DB01595. Nitrazepam.
    DB00334. Olanzapine.
    DB00842. Oxazepam.
    DB00312. Pentobarbital.
    DB01588. Prazepam.
    DB00794. Primidone.
    DB00818. Propofol.
    DB01589. Quazepam.
    DB01236. Sevoflurane.
    DB00306. Talbutal.
    DB00231. Temazepam.
    DB00273. Topiramate.
    DB00897. Triazolam.
    GuidetoPHARMACOLOGYi 419.

    PTM databases

    PhosphoSitei O00591.

    Proteomic databases

    MaxQBi O00591.
    PaxDbi O00591.
    PRIDEi O00591.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265294 ; ENSP00000265294 ; ENSG00000094755 .
    ENST00000518525 ; ENSP00000430100 ; ENSG00000094755 .
    GeneIDi 2568.
    KEGGi hsa:2568.
    UCSCi uc003mau.3. human.

    Organism-specific databases

    CTDi 2568.
    GeneCardsi GC05P170143.
    HGNCi HGNC:4089. GABRP.
    HPAi CAB014883.
    MIMi 602729. gene.
    neXtProti NX_O00591.
    PharmGKBi PA28503.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG255582.
    HOGENOMi HOG000231335.
    HOVERGENi HBG051707.
    InParanoidi O00591.
    KOi K05189.
    OMAi NDVEFSW.
    PhylomeDBi O00591.
    TreeFami TF315453.

    Miscellaneous databases

    GeneWikii GABRP.
    GenomeRNAii 2568.
    NextBioi 10157.
    PROi O00591.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00591.
    Bgeei O00591.
    CleanExi HS_GABRP.
    Genevestigatori O00591.

    Family and domain databases

    Gene3Di 2.70.170.10. 1 hit.
    InterProi IPR006028. GABAA/Glycine_rcpt.
    IPR008100. GABAAp_rcpt.
    IPR006202. Neur_chan_lig-bd.
    IPR006201. Neur_channel.
    IPR006029. Neurotrans-gated_channel_TM.
    IPR018000. Neurotransmitter_ion_chnl_CS.
    [Graphical view ]
    PANTHERi PTHR18945. PTHR18945. 1 hit.
    Pfami PF02931. Neur_chan_LBD. 1 hit.
    PF02932. Neur_chan_memb. 1 hit.
    [Graphical view ]
    PRINTSi PR00253. GABAARECEPTR.
    PR01724. GABAARPI.
    PR00252. NRIONCHANNEL.
    SUPFAMi SSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    TIGRFAMsi TIGR00860. LIC. 1 hit.
    PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel class of GABAA receptor subunit in tissues of the reproductive system."
      Hedblom E., Kirkness E.F.
      J. Biol. Chem. 272:15346-15350(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Structure and localization of the gene encoding the human GABA-A receptor pi subunit (GABRP)."
      Johnson E.K., Hedblom E., Kirkness E.F.
      Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Trachea.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-391.
      Tissue: Lung.
    6. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-416.

    Entry informationi

    Entry nameiGBRP_HUMAN
    AccessioniPrimary (citable) accession number: O00591
    Secondary accession number(s): A8KA36, D3DQL2, Q32MJ1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: July 1, 1997
    Last modified: October 1, 2014
    This is version 130 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3