GenomeNet

Database: UniProt
Entry: Q99928
LinkDB: Q99928
Original site: Q99928 
ID   GBRG3_HUMAN             Reviewed;         467 AA.
AC   Q99928; G3V594; Q9HD46; Q9NYT2;
DT   15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT   04-MAY-2001, sequence version 2.
DT   03-SEP-2014, entry version 132.
DE   RecName: Full=Gamma-aminobutyric acid receptor subunit gamma-3;
DE   AltName: Full=GABA(A) receptor subunit gamma-3;
DE   Flags: Precursor;
GN   Name=GABRG3;
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] (ISOFORM 1).
RC   TISSUE=Fetal brain;
RX   PubMed=8719414; DOI=10.1016/0922-4106(95)90070-5;
RA   Hadingham K.L., Wafford K.A., Thompson S.A., Palmer K.J.,
RA   Whiting P.J.;
RT   "Expression and pharmacology of human GABAA receptors containing gamma
RT   3 subunits.";
RL   Eur. J. Pharmacol. 291:301-309(1995).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA   Han M.K., Chen Y.-H., Nurmi E.L., Sutcliffe J.S.;
RT   "Gene structure and organization of the GABAA receptor gamma 3 subunit
RT   (GABRG3) gene.";
RL   Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16572171; DOI=10.1038/nature04601;
RA   Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA   Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA   FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA   Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA   Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA   DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R.,
RA   Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G.,
RA   Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A.,
RA   Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W.,
RA   Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X.,
RA   Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K.,
RA   Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S.,
RA   Nusbaum C.;
RT   "Analysis of the DNA sequence and duplication history of human
RT   chromosome 15.";
RL   Nature 440:671-675(2006).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 19-467.
RA   Kim S.-J., Gonen D., Yang Z.-Y., Reliford A., Dy A., Leventhal B.L.,
RA   Cook E.H. Jr.;
RT   "Genomic organization of GABAA receptor gamma 3 subunit gene
RT   (GABRG3).";
RL   Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
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.
CC   -!- SUBUNIT: Generally pentameric. There are five types of GABA(A)
CC       receptor chains: alpha, beta, gamma, delta, and rho.
CC   -!- SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell
CC       membrane; Multi-pass membrane protein. Cell membrane; Multi-pass
CC       membrane protein.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q99928-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q99928-2; Sequence=VSP_047543, VSP_047544;
CC         Note=No experimental confirmation available;
CC   -!- PTM: May be palmitoylated (By similarity).
CC   -!- MISCELLANEOUS: This subunit carries the benzodiazepine binding
CC       site.
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       GABRG3 sub-subfamily.
CC   -!- WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue
CC       56 of March 2005;
CC       URL="http://web.expasy.org/spotlight/back_issues/056";
CC   -----------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution-NoDerivs License
CC   -----------------------------------------------------------------------
DR   EMBL; S82769; AAB39369.1; -; mRNA.
DR   EMBL; AF269144; AAF99698.1; -; Genomic_DNA.
DR   EMBL; AF269135; AAF99698.1; JOINED; Genomic_DNA.
DR   EMBL; AF269136; AAF99698.1; JOINED; Genomic_DNA.
DR   EMBL; AF269137; AAF99698.1; JOINED; Genomic_DNA.
DR   EMBL; AF269138; AAF99698.1; JOINED; Genomic_DNA.
DR   EMBL; AF269139; AAF99698.1; JOINED; Genomic_DNA.
DR   EMBL; AF269140; AAF99698.1; JOINED; Genomic_DNA.
DR   EMBL; AF269141; AAF99698.1; JOINED; Genomic_DNA.
DR   EMBL; AF269142; AAF99698.1; JOINED; Genomic_DNA.
DR   EMBL; AF269143; AAF99698.1; JOINED; Genomic_DNA.
DR   EMBL; AC104002; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC127511; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC135326; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC136896; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC144833; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC145436; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; EU606049; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471151; EAW57658.1; -; Genomic_DNA.
DR   EMBL; BC045709; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AH009226; AAF63215.1; -; Genomic_DNA.
DR   CCDS; CCDS45195.1; -. [Q99928-1]
DR   CCDS; CCDS59251.1; -. [Q99928-2]
DR   RefSeq; NP_001257802.1; NM_001270873.1. [Q99928-2]
DR   RefSeq; NP_150092.2; NM_033223.4. [Q99928-1]
DR   UniGene; Hs.569475; -.
DR   ProteinModelPortal; Q99928; -.
DR   SMR; Q99928; 45-345.
DR   STRING; 9606.ENSP00000331912; -.
DR   BindingDB; Q99928; -.
DR   ChEMBL; CHEMBL2109243; -.
DR   GuidetoPHARMACOLOGY; 415; -.
DR   PhosphoSite; Q99928; -.
DR   DMDM; 13959689; -.
DR   PaxDb; Q99928; -.
DR   PRIDE; Q99928; -.
DR   Ensembl; ENST00000333743; ENSP00000331912; ENSG00000182256. [Q99928-1]
DR   Ensembl; ENST00000555083; ENSP00000452244; ENSG00000182256. [Q99928-2]
DR   GeneID; 2567; -.
DR   KEGG; hsa:2567; -.
DR   UCSC; uc001zbf.4; human.
DR   UCSC; uc001zbg.2; human. [Q99928-1]
DR   CTD; 2567; -.
DR   GeneCards; GC15P027216; -.
DR   GeneReviews; GABRG3; -.
DR   H-InvDB; HIX0026811; -.
DR   HGNC; HGNC:4088; GABRG3.
DR   HPA; HPA054010; -.
DR   MIM; 600233; gene.
DR   neXtProt; NX_Q99928; -.
DR   PharmGKB; PA28502; -.
DR   eggNOG; NOG300758; -.
DR   HOGENOM; HOG000231337; -.
DR   HOVERGEN; HBG051707; -.
DR   InParanoid; Q99928; -.
DR   KO; K05186; -.
DR   OMA; DACVYEC; -.
DR   OrthoDB; EOG7JX342; -.
DR   PhylomeDB; Q99928; -.
DR   TreeFam; TF315453; -.
DR   Reactome; REACT_24987; GABA A receptor activation.
DR   Reactome; REACT_25387; Ligand-gated ion channel transport.
DR   GeneWiki; GABRG3; -.
DR   GenomeRNAi; 2567; -.
DR   NextBio; 10153; -.
DR   PRO; PR:Q99928; -.
DR   ArrayExpress; Q99928; -.
DR   Bgee; Q99928; -.
DR   CleanEx; HS_GABRG3; -.
DR   Genevestigator; Q99928; -.
DR   GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
DR   GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell.
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; IEA:Ensembl.
DR   GO; GO:0007214; P:gamma-aminobutyric acid signaling pathway; IEA:InterPro.
DR   GO; GO:0034220; P:ion transmembrane transport; TAS:Reactome.
DR   GO; GO:0042493; P:response to drug; IEA:Ensembl.
DR   GO; GO:0007268; P:synaptic transmission; TAS:Reactome.
DR   GO; GO:0055085; P:transmembrane transport; TAS:Reactome.
DR   Gene3D; 2.70.170.10; -; 1.
DR   InterPro; IPR006028; GABAA/Glycine_rcpt.
DR   InterPro; IPR005440; GABBAg3_rcpt.
DR   InterPro; IPR005437; GABBAg_rcpt.
DR   InterPro; IPR006202; Neur_chan_lig-bd.
DR   InterPro; IPR006201; Neur_channel.
DR   InterPro; IPR006029; Neurotrans-gated_channel_TM.
DR   InterPro; IPR018000; Neurotransmitter_ion_chnl_CS.
DR   PANTHER; PTHR18945; PTHR18945; 1.
DR   Pfam; PF02931; Neur_chan_LBD; 1.
DR   Pfam; PF02932; Neur_chan_memb; 1.
DR   PRINTS; PR00253; GABAARECEPTR.
DR   PRINTS; PR01620; GABAARGAMMA.
DR   PRINTS; PR01623; GABAARGAMMA3.
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   Alternative splicing; Cell junction; Cell membrane; Chloride;
KW   Chloride channel; Complete proteome; Disulfide bond; Glycoprotein;
KW   Ion channel; Ion transport; Lipoprotein; Membrane; Palmitate;
KW   Polymorphism; Postsynaptic cell membrane; Reference proteome; Signal;
KW   Synapse; Transmembrane; Transmembrane helix; Transport.
FT   SIGNAL        1     17       Potential.
FT   CHAIN        18    467       Gamma-aminobutyric acid receptor subunit
FT                                gamma-3.
FT                                /FTId=PRO_0000000481.
FT   TOPO_DOM     18    254       Extracellular (Probable).
FT   TRANSMEM    255    277       Helical; (Probable).
FT   TRANSMEM    281    303       Helical; (Probable).
FT   TRANSMEM    315    337       Helical; (Probable).
FT   TOPO_DOM    338    443       Cytoplasmic (Probable).
FT   TRANSMEM    444    467       Helical; (Probable).
FT   CARBOHYD    110    110       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    228    228       N-linked (GlcNAc...) (Potential).
FT   DISULFID    171    185       By similarity.
FT   VAR_SEQ     239    253       DYVVMTIYFELSRRM -> RNLLKEAQLSKAREA (in
FT                                isoform 2).
FT                                /FTId=VSP_047543.
FT   VAR_SEQ     254    467       Missing (in isoform 2).
FT                                /FTId=VSP_047544.
FT   VARIANT     352    352       T -> A (in dbSNP:rs2066712).
FT                                /FTId=VAR_033957.
FT   CONFLICT    172    172       Q -> R (in Ref. 5; BC045709).
FT   CONFLICT    386    386       T -> P (in Ref. 1; AAB39369).
SQ   SEQUENCE   467 AA;  54289 MW;  1B22D145166438D6 CRC64;
     MAPKLLLLLC LFSGLHARSR KVEEDEYEDS SSNQKWVLAP KSQDTDVTLI LNKLLREYDK
     KLRPDIGIKP TVIDVDIYVN SIGPVSSINM EYQIDIFFAQ TWTDSRLRFN STMKILTLNS
     NMVGLIWIPD TIFRNSKTAE AHWITTPNQL LRIWNDGKIL YTLRLTINAE CQLQLHNFPM
     DEHSCPLIFS SYGYPKEEMI YRWRKNSVEA ADQKSWRLYQ FDFMGLRNTT EIVTTSAGDY
     VVMTIYFELS RRMGYFTIQT YIPCILTVVL SWVSFWIKKD ATPARTALGI TTVLTMTTLS
     TIARKSLPRV SYVTAMDLFV TVCFLFVFAA LMEYATLNYY SSCRKPTTTK KTTSLLHPDS
     SRWIPERISL QAPSNYSLLD MRPPPTAMIT LNNSVYWQEF EDTCVYECLD GKDCQSFFCC
     YEECKSGSWR KGRIHIDILE LDSYSRVFFP TSFLLFNLVY WVGYLYL
//
DBGET integrated database retrieval system