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UniProtKB/Swiss-Prot entry P28472


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name GBRB3_HUMAN
Primary accession number P28472
Secondary accession numbers Q14352 Q96FM5
Integrated into Swiss-Prot on December 1, 1992
Sequence was last modified on December 1, 1992 (Sequence version 1)
Annotations were last modified on    July 22, 2008 (Entry version 88)
Name and origin of the protein
Protein name Gamma-aminobutyric acid receptor subunit beta-3 [Precursor]
Synonym GABA(A) receptor subunit beta-3
Gene name
Name: GABRB3
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1016/0888-7543(91)90034-C; PubMed=1664410 [NCBI, ExPASy, EBI, Israel, Japan]
Wagstaff J., Chaillet J.R., Lalande M.;
"The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7.";
Genomics 11:1071-1078(1991).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Eye;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-80 (ISOFORMS 1 AND 2).
TISSUE=Fibroblast;
PubMed=8382702 [NCBI, ExPASy, EBI, Israel, Japan]
Kirkness E.F., Fraser C.M.;
"A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3).";
J. Biol. Chem. 268:4420-4428(1993).
[4]
NUCLEOTIDE SEQUENCE OF 81-153 AND 183-227.
PubMed=1714232 [NCBI, ExPASy, EBI, Israel, Japan]
Wagstaff J., Knoll J.H.M., Fleming J., Kirkness E.F., Martin-Gallardo A., Greenberg F., Graham J.M. Jr., Menninger J., Ward D., Venter J.C., Lalande M.;
"Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15.";
Am. J. Hum. Genet. 49:330-337(1991).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
M82919; AAA52511.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC010641; AAH10641.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
L04311; AAA52508.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
L04311; AAA52507.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR A55275; A55275.
B45468; B45468.
RefSeq NP_000805.1; -.
NP_068712.1; -.
UniGene Hs.302352
3D structure databases
ModBase P28472.
PTM databases
PhosphoSite P28472; -.
Organism-specific databases
H-InvDB HIX0012052; -.
HGNC HGNC:4083; GABRB3.
GenAtlas GABRB3.
MIM 137192; gene. [NCBI / EBI]
PharmGKB PA28497; -.
GeneCards P28472.
Gene expression databases
ArrayExpress P28472; -.
CleanEx HS_GABRB3; -.
GermOnline ENSG00000166206; Homo sapiens.
Ontologies
GO
GO:0005887; Cellular component: integral to plasma membrane (traceable author statement from ProtInc).
GO:0004890; Molecular function: GABA-A receptor activity (traceable author statement from ProtInc).
GO:0007165; Biological process: signal transduction (traceable author statement from ProtInc).
GO:0006810; Biological process: transport (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR006028; GABAA_rcpt.
IPR002289; GABAAb_rcpt.
IPR006029; Neu_channel_TM.
IPR006202; Neur_chan_lig_bd.
IPR006201; Neur_channel.
Graphical view of domain structure.
Gene3D G3DSA:2.70.170.10; Neur_chan_lig_bd; 1.
PANTHER PTHR18945; Neur_channel; 1.
Pfam PF02931; Neur_chan_LBD; 1.
PF02932; Neur_chan_memb; 1.
Pfam graphical view of domain structure.
PRINTS PR01160; GABAARBETA.
PR00253; GABAARECEPTR.
PR00252; NRIONCHANNEL.
TIGRFAMs TIGR00860; LIC; 1.
PROSITE PS00236; NEUROTR_ION_CHANNEL; 1.
BLOCKS P28472.
Genome annotation databases
Ensembl ENSG00000166206; Homo sapiens. [Contig view]
GeneID 2562; -.
KEGG hsa:2562; -.
Phylogenomic databases
HOVERGEN P28472; -.
Other
DrugBank DB00189; Ethchlorvynol.
DB00690; Flurazepam.
DB00186; Lorazepam.
DB00683; Midazolam.
SOURCE GABRB3; Homo sapiens.
ProtoNet P28472.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Cell junction; Cell membrane; Chloride; Chloride channel; Glycoprotein; Ion transport; Ionic channel; Membrane; Postsynaptic cell membrane; Signal; Synapse; Transmembrane; Transport.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1    25  25     Potential. 
CHAIN   26   473  448     Gamma-aminobutyric acid receptor subunit beta-3. PRO_0000000462
TOPO_DOM   26   245  220     Extracellular (Probable). 
TRANSMEM   246   267  22     Probable. 
TRANSMEM   271   293  23     Probable. 
TRANSMEM   305   327  23     Probable. 
TOPO_DOM   328   450  123     Cytoplasmic (Probable). 
TRANSMEM   451   472  22     Probable. 
CARBOHYD   33    33        N-linked (GlcNAc...) (Potential). 
CARBOHYD   105   105        N-linked (GlcNAc...) (Potential). 
CARBOHYD   174   174        N-linked (GlcNAc...) (Potential). 
DISULFID   161   175        By similarity. 
VAR_SEQ   1    26        MWGLAGGRLFGIFSAPVLVAVVCCAQ -> MCSGLLELLLPIWLSWTLGTRGSEPR (in isoform 2). VSP_000088
CONFLICT   173   173        Q -> L (in Ref. 2; AAH10641). 
Sequence information
Length: 473 AA [This is the length of the unprocessed precursor] Molecular weight: 54116 Da [This is the MW of the unprocessed precursor] CRC64: D63597F7FBC69E71 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MWGLAGGRLF GIFSAPVLVA VVCCAQSVND PGNMSFVKET VDKLLKGYDI RLRPDFGGPP 

        70         80         90        100        110        120 
VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS GIPLNLTLDN RVADQLWVPD 

       130        140        150        160        170        180 
TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE 

       190        200        210        220        230        240 
SYGYTTDDIE FYWRGGDKAV TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK 

       250        260        270        280        290        300 
RNIGYFILQT YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI 

       310        320        330        340        350        360 
PYVKAIDMYL MGCFVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK NDRSKSESNR 

       370        380        390        400        410        420 
VDAHGNILLT SLEVHNEMNE VSGGIGDTRN SAISFDNSGI QYRKQSMPRE GHGRFLGDRS 

       430        440        450        460        470 
LPHKKTHLRR RSSQLKIKIP DLTDVNAIDR WSRIVFPFTF SLFNLVYWLY YVN 

P28472 in FASTA format

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View entry in raw text format (no links)
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