Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q99928

- GBRG3_HUMAN

UniProt

Q99928 - GBRG3_HUMAN

Protein

Gamma-aminobutyric acid receptor subunit gamma-3

Gene

GABRG3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 2 (04 May 2001)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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.

    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: Ensembl

    GO - Biological processi

    1. gamma-aminobutyric acid signaling pathway Source: InterPro
    2. ion transmembrane transport Source: Reactome
    3. response to drug Source: Ensembl
    4. synaptic transmission Source: Reactome
    5. transmembrane transport Source: Reactome

    Keywords - Molecular functioni

    Chloride channel, Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Chloride

    Enzyme and pathway databases

    ReactomeiREACT_24987. GABA A receptor activation.
    REACT_25387. Ligand-gated ion channel transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gamma-aminobutyric acid receptor subunit gamma-3
    Alternative name(s):
    GABA(A) receptor subunit gamma-3
    Gene namesi
    Name:GABRG3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:4088. GABRG3.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28502.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1717Sequence AnalysisAdd
    BLAST
    Chaini18 – 467450Gamma-aminobutyric acid receptor subunit gamma-3PRO_0000000481Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi110 – 1101N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi171 ↔ 185By similarity
    Glycosylationi228 – 2281N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    May be palmitoylated.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

    Proteomic databases

    PaxDbiQ99928.
    PRIDEiQ99928.

    PTM databases

    PhosphoSiteiQ99928.

    Expressioni

    Gene expression databases

    ArrayExpressiQ99928.
    BgeeiQ99928.
    CleanExiHS_GABRG3.
    GenevestigatoriQ99928.

    Organism-specific databases

    HPAiHPA054010.

    Interactioni

    Subunit structurei

    Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.

    Protein-protein interaction databases

    STRINGi9606.ENSP00000331912.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99928.
    SMRiQ99928. Positions 45-345.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini18 – 254237ExtracellularCuratedAdd
    BLAST
    Topological domaini338 – 443106CytoplasmicCuratedAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei255 – 27723HelicalCuratedAdd
    BLAST
    Transmembranei281 – 30323HelicalCuratedAdd
    BLAST
    Transmembranei315 – 33723HelicalCuratedAdd
    BLAST
    Transmembranei444 – 46724HelicalCuratedAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG300758.
    HOGENOMiHOG000231337.
    HOVERGENiHBG051707.
    InParanoidiQ99928.
    KOiK05186.
    OMAiDACVYEC.
    OrthoDBiEOG7JX342.
    PhylomeDBiQ99928.
    TreeFamiTF315453.

    Family and domain databases

    Gene3Di2.70.170.10. 1 hit.
    InterProiIPR006028. GABAA/Glycine_rcpt.
    IPR005440. GABBAg3_rcpt.
    IPR005437. GABBAg_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.
    PR01620. GABAARGAMMA.
    PR01623. GABAARGAMMA3.
    PR00252. NRIONCHANNEL.
    SUPFAMiSSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    TIGRFAMsiTIGR00860. LIC. 1 hit.
    PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q99928-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAPKLLLLLC LFSGLHARSR KVEEDEYEDS SSNQKWVLAP KSQDTDVTLI    50
    LNKLLREYDK KLRPDIGIKP TVIDVDIYVN SIGPVSSINM EYQIDIFFAQ 100
    TWTDSRLRFN STMKILTLNS NMVGLIWIPD TIFRNSKTAE AHWITTPNQL 150
    LRIWNDGKIL YTLRLTINAE CQLQLHNFPM DEHSCPLIFS SYGYPKEEMI 200
    YRWRKNSVEA ADQKSWRLYQ FDFMGLRNTT EIVTTSAGDY VVMTIYFELS 250
    RRMGYFTIQT YIPCILTVVL SWVSFWIKKD ATPARTALGI TTVLTMTTLS 300
    TIARKSLPRV SYVTAMDLFV TVCFLFVFAA LMEYATLNYY SSCRKPTTTK 350
    KTTSLLHPDS SRWIPERISL QAPSNYSLLD MRPPPTAMIT LNNSVYWQEF 400
    EDTCVYECLD GKDCQSFFCC YEECKSGSWR KGRIHIDILE LDSYSRVFFP 450
    TSFLLFNLVY WVGYLYL 467
    Length:467
    Mass (Da):54,289
    Last modified:May 4, 2001 - v2
    Checksum:i1B22D145166438D6
    GO
    Isoform 2 (identifier: Q99928-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         239-253: DYVVMTIYFELSRRM → RNLLKEAQLSKAREA
         254-467: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:253
    Mass (Da):29,402
    Checksum:iBB0AE39434EE015F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti172 – 1721Q → R in BC045709. (PubMed:15489334)Curated
    Sequence conflicti386 – 3861T → P in AAB39369. (PubMed:8719414)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti352 – 3521T → A.
    Corresponds to variant rs2066712 [ dbSNP | Ensembl ].
    VAR_033957

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei239 – 25315DYVVM…LSRRM → RNLLKEAQLSKAREA in isoform 2. 1 PublicationVSP_047543Add
    BLAST
    Alternative sequencei254 – 467214Missing in isoform 2. 1 PublicationVSP_047544Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S82769 mRNA. Translation: AAB39369.1.
    AF269144
    , AF269135, AF269136, AF269137, AF269138, AF269139, AF269140, AF269141, AF269142, AF269143 Genomic DNA. Translation: AAF99698.1.
    AC104002 Genomic DNA. No translation available.
    AC127511 Genomic DNA. No translation available.
    AC135326 Genomic DNA. No translation available.
    AC136896 Genomic DNA. No translation available.
    AC144833 Genomic DNA. No translation available.
    AC145436 Genomic DNA. No translation available.
    EU606049 Genomic DNA. No translation available.
    CH471151 Genomic DNA. Translation: EAW57658.1.
    BC045709 mRNA. No translation available.
    AH009226 Genomic DNA. Translation: AAF63215.1.
    CCDSiCCDS45195.1. [Q99928-1]
    CCDS59251.1. [Q99928-2]
    RefSeqiNP_001257802.1. NM_001270873.1. [Q99928-2]
    NP_150092.2. NM_033223.4. [Q99928-1]
    UniGeneiHs.569475.

    Genome annotation databases

    EnsembliENST00000333743; ENSP00000331912; ENSG00000182256. [Q99928-1]
    ENST00000555083; ENSP00000452244; ENSG00000182256. [Q99928-2]
    GeneIDi2567.
    KEGGihsa:2567.
    UCSCiuc001zbf.4. human.
    uc001zbg.2. human. [Q99928-1]

    Polymorphism databases

    DMDMi13959689.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    Forbidden fruit - Issue 56 of March 2005

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S82769 mRNA. Translation: AAB39369.1 .
    AF269144
    , AF269135 , AF269136 , AF269137 , AF269138 , AF269139 , AF269140 , AF269141 , AF269142 , AF269143 Genomic DNA. Translation: AAF99698.1 .
    AC104002 Genomic DNA. No translation available.
    AC127511 Genomic DNA. No translation available.
    AC135326 Genomic DNA. No translation available.
    AC136896 Genomic DNA. No translation available.
    AC144833 Genomic DNA. No translation available.
    AC145436 Genomic DNA. No translation available.
    EU606049 Genomic DNA. No translation available.
    CH471151 Genomic DNA. Translation: EAW57658.1 .
    BC045709 mRNA. No translation available.
    AH009226 Genomic DNA. Translation: AAF63215.1 .
    CCDSi CCDS45195.1. [Q99928-1 ]
    CCDS59251.1. [Q99928-2 ]
    RefSeqi NP_001257802.1. NM_001270873.1. [Q99928-2 ]
    NP_150092.2. NM_033223.4. [Q99928-1 ]
    UniGenei Hs.569475.

    3D structure databases

    ProteinModelPortali Q99928.
    SMRi Q99928. Positions 45-345.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000331912.

    Chemistry

    BindingDBi Q99928.
    ChEMBLi CHEMBL2109243.
    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 415.

    PTM databases

    PhosphoSitei Q99928.

    Polymorphism databases

    DMDMi 13959689.

    Proteomic databases

    PaxDbi Q99928.
    PRIDEi Q99928.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000333743 ; ENSP00000331912 ; ENSG00000182256 . [Q99928-1 ]
    ENST00000555083 ; ENSP00000452244 ; ENSG00000182256 . [Q99928-2 ]
    GeneIDi 2567.
    KEGGi hsa:2567.
    UCSCi uc001zbf.4. human.
    uc001zbg.2. human. [Q99928-1 ]

    Organism-specific databases

    CTDi 2567.
    GeneCardsi GC15P027216.
    GeneReviewsi GABRG3.
    H-InvDB HIX0026811.
    HGNCi HGNC:4088. GABRG3.
    HPAi HPA054010.
    MIMi 600233. gene.
    neXtProti NX_Q99928.
    PharmGKBi PA28502.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG300758.
    HOGENOMi HOG000231337.
    HOVERGENi HBG051707.
    InParanoidi Q99928.
    KOi K05186.
    OMAi DACVYEC.
    OrthoDBi EOG7JX342.
    PhylomeDBi Q99928.
    TreeFami TF315453.

    Enzyme and pathway databases

    Reactomei REACT_24987. GABA A receptor activation.
    REACT_25387. Ligand-gated ion channel transport.

    Miscellaneous databases

    GeneWikii GABRG3.
    GenomeRNAii 2567.
    NextBioi 10153.
    PROi Q99928.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99928.
    Bgeei Q99928.
    CleanExi HS_GABRG3.
    Genevestigatori Q99928.

    Family and domain databases

    Gene3Di 2.70.170.10. 1 hit.
    InterProi IPR006028. GABAA/Glycine_rcpt.
    IPR005440. GABBAg3_rcpt.
    IPR005437. GABBAg_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.
    PR01620. GABAARGAMMA.
    PR01623. GABAARGAMMA3.
    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. "Expression and pharmacology of human GABAA receptors containing gamma 3 subunits."
      Hadingham K.L., Wafford K.A., Thompson S.A., Palmer K.J., Whiting P.J.
      Eur. J. Pharmacol. 291:301-309(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Fetal brain.
    2. "Gene structure and organization of the GABAA receptor gamma 3 subunit (GABRG3) gene."
      Han M.K., Chen Y.-H., Nurmi E.L., Sutcliffe J.S.
      Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORM 2).
    6. "Genomic organization of GABAA receptor gamma 3 subunit gene (GABRG3)."
      Kim S.-J., Gonen D., Yang Z.-Y., Reliford A., Dy A., Leventhal B.L., Cook E.H. Jr.
      Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 19-467.

    Entry informationi

    Entry nameiGBRG3_HUMAN
    AccessioniPrimary (citable) accession number: Q99928
    Secondary accession number(s): G3V594, Q9HD46, Q9NYT2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: May 4, 2001
    Last modified: October 1, 2014
    This is version 133 of the entry and version 2 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

    Miscellaneous

    This subunit carries the benzodiazepine binding site.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3