ID   GBRB3_HUMAN             Reviewed;         473 AA.
AC   P28472; Q14352; Q96FM5;
DT   01-DEC-1992, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-1992, sequence version 1.
DT   25-NOV-2008, entry version 90.
DE   RecName: Full=Gamma-aminobutyric acid receptor subunit beta-3;
DE   AltName: Full=GABA(A) receptor subunit beta-3;
DE   Flags: Precursor;
GN   Name=GABRB3;
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   MEDLINE=92147103; PubMed=1664410; DOI=10.1016/0888-7543(91)90034-C;
RA   Wagstaff J., Chaillet J.R., Lalande M.;
RT   "The GABAA receptor beta 3 subunit gene: characterization of a human
RT   cDNA from chromosome 15q11q13 and mapping to a region of conserved
RT   synteny on mouse chromosome 7.";
RL   Genomics 11:1071-1078(1991).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Eye;
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   [3]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-80 (ISOFORMS 1 AND 2).
RC   TISSUE=Fibroblast;
RX   MEDLINE=93179454; PubMed=8382702;
RA   Kirkness E.F., Fraser C.M.;
RT   "A strong promoter element is located between alternative exons of a
RT   gene encoding the human gamma-aminobutyric acid-type A receptor beta 3
RT   subunit (GABRB3).";
RL   J. Biol. Chem. 268:4420-4428(1993).
RN   [4]
RP   NUCLEOTIDE SEQUENCE OF 81-153 AND 183-227.
RX   PubMed=1714232;
RA   Wagstaff J., Knoll J.H.M., Fleming J., Kirkness E.F.,
RA   Martin-Gallardo A., Greenberg F., Graham J.M. Jr., Menninger J.,
RA   Ward D., Venter J.C., Lalande M.;
RT   "Localization of the gene encoding the GABAA receptor beta 3 subunit
RT   to the Angelman/Prader-Willi region of human chromosome 15.";
RL   Am. J. Hum. Genet. 49:330-337(1991).
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: Binds UBQLN1 (By similarity). Generally pentameric. There
CC       are five types of GABA(A) receptor chains: alpha, beta, gamma,
CC       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         Comment=Isoforms differ in their signal region;
CC       Name=1;
CC         IsoId=P28472-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=P28472-2; Sequence=VSP_000088;
CC   -!- SIMILARITY: Belongs to the ligand-gated ionic channel (TC 1.A.9)
CC       family.
CC   -!- WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue
CC       56 of March 2005;
CC       URL="http://www.expasy.org/spotlight/back_issues/sptlt056.shtml";
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DR   EMBL; M82919; AAA52511.1; -; mRNA.
DR   EMBL; BC010641; AAH10641.1; -; mRNA.
DR   EMBL; L04311; AAA52508.1; -; Genomic_DNA.
DR   EMBL; L04311; AAA52507.1; -; Genomic_DNA.
DR   PIR; A55275; A55275.
DR   PIR; B45468; B45468.
DR   RefSeq; NP_000805.1; -.
DR   RefSeq; NP_068712.1; -.
DR   UniGene; Hs.302352; -.
DR   UniGene; Hs.657298; -.
DR   PhosphoSite; P28472; -.
DR   Ensembl; ENSG00000166206; Homo sapiens.
DR   GeneID; 2562; -.
DR   KEGG; hsa:2562; -.
DR   H-InvDB; HIX0012052; -.
DR   HGNC; HGNC:4083; GABRB3.
DR   MIM; 137192; gene.
DR   Orphanet; 106; Autism.
DR   PharmGKB; PA28497; -.
DR   HOVERGEN; P28472; -.
DR   DrugBank; DB00189; Ethchlorvynol.
DR   DrugBank; DB00690; Flurazepam.
DR   DrugBank; DB00186; Lorazepam.
DR   DrugBank; DB00683; Midazolam.
DR   NextBio; 10121; -.
DR   ArrayExpress; P28472; -.
DR   CleanEx; HS_GABRB3; -.
DR   GermOnline; ENSG00000166206; Homo sapiens.
DR   GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
DR   GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR   GO; GO:0045211; C:postsynaptic membrane; IEA:InterPro.
DR   GO; GO:0005254; F:chloride channel activity; IEA:UniProtKB-KW.
DR   GO; GO:0031404; F:chloride ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0005230; F:extracellular ligand-gated ion channel acti...; IEA:InterPro.
DR   GO; GO:0004890; F:GABA-A receptor activity; TAS:ProtInc.
DR   GO; GO:0030594; F:neurotransmitter receptor activity; IEA:InterPro.
DR   GO; GO:0006811; P:ion transport; IEA:InterPro.
DR   GO; GO:0007165; P:signal transduction; TAS:ProtInc.
DR   InterPro; IPR006028; GABAA_rcpt.
DR   InterPro; IPR002289; GABAAb_rcpt.
DR   InterPro; IPR006029; Neu_channel_TM.
DR   InterPro; IPR006202; Neur_chan_lig_bd.
DR   InterPro; IPR006201; Neur_channel.
DR   Gene3D; G3DSA:2.70.170.10; Neur_chan_lig_bd; 1.
DR   PANTHER; PTHR18945; Neur_channel; 1.
DR   Pfam; PF02931; Neur_chan_LBD; 1.
DR   Pfam; PF02932; Neur_chan_memb; 1.
DR   PRINTS; PR01160; GABAARBETA.
DR   PRINTS; PR00253; GABAARECEPTR.
DR   PRINTS; PR00252; NRIONCHANNEL.
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; Glycoprotein; Ion transport; Ionic channel;
KW   Membrane; Postsynaptic cell membrane; Signal; Synapse; Transmembrane;
KW   Transport.
FT   SIGNAL        1     25       Potential.
FT   CHAIN        26    473       Gamma-aminobutyric acid receptor subunit
FT                                beta-3.
FT                                /FTId=PRO_0000000462.
FT   TOPO_DOM     26    245       Extracellular (Probable).
FT   TRANSMEM    246    267       Probable.
FT   TRANSMEM    271    293       Probable.
FT   TRANSMEM    305    327       Probable.
FT   TOPO_DOM    328    450       Cytoplasmic (Probable).
FT   TRANSMEM    451    472       Probable.
FT   CARBOHYD     33     33       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    105    105       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    174    174       N-linked (GlcNAc...) (Potential).
FT   DISULFID    161    175       By similarity.
FT   VAR_SEQ       1     26       MWGLAGGRLFGIFSAPVLVAVVCCAQ -> MCSGLLELLLP
FT                                IWLSWTLGTRGSEPR (in isoform 2).
FT                                /FTId=VSP_000088.
FT   CONFLICT    173    173       Q -> L (in Ref. 2; AAH10641).
SQ   SEQUENCE   473 AA;  54116 MW;  D63597F7FBC69E71 CRC64;
     MWGLAGGRLF GIFSAPVLVA VVCCAQSVND PGNMSFVKET VDKLLKGYDI RLRPDFGGPP
     VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS GIPLNLTLDN RVADQLWVPD
     TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE
     SYGYTTDDIE FYWRGGDKAV TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK
     RNIGYFILQT YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI
     PYVKAIDMYL MGCFVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK NDRSKSESNR
     VDAHGNILLT SLEVHNEMNE VSGGIGDTRN SAISFDNSGI QYRKQSMPRE GHGRFLGDRS
     LPHKKTHLRR RSSQLKIKIP DLTDVNAIDR WSRIVFPFTF SLFNLVYWLY YVN
//