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UniProtKB/Swiss-Prot entry P18505


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

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Entry information
Entry name GBRB1_HUMAN
Primary accession number P18505
Secondary accession numbers Q16166 Q8TBK3
Integrated into Swiss-Prot on November 1, 1990
Sequence was last modified on October 10, 2002 (Sequence version 2)
Annotations were last modified on    September 23, 2008 (Entry version 94)
Name and origin of the protein
Protein name Gamma-aminobutyric acid receptor subunit beta-1 [Precursor]
Synonym GABA(A) receptor subunit beta-1
Gene name
Name: GABRB1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE.
DOI=10.1016/0014-5793(89)80563-0; PubMed=2465923 [NCBI, ExPASy, EBI, Israel, Japan]
Schofield P.R., Pritchett D.B., Sontheimer H., Kettenmann H., Seeburg P.H.;
"Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits.";
FEBS Lett. 244:361-364(1989).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1016/0888-7543(91)90189-L; PubMed=1655634 [NCBI, ExPASy, EBI, Israel, Japan]
Kirkness E.F., Kusiak J.W., Fleming J.T., Menninger J., Gocayne J.D., Ward D.C., Venter J.C.;
"Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1).";
Genomics 10:985-995(1991).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ASN-429.
TISSUE=Brain;
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).
[4]
NUCLEOTIDE SEQUENCE OF 19-474.
PubMed=2160058 [NCBI, ExPASy, EBI, Israel, Japan]
Garrett K.M., Saito N., Duman R.S., Abel M.S., Ashton R.A., Fujimori S., Beer B., Tallman J.F., Vitek M.P., Blume A.J.;
"Differential expression of gamma-aminobutyric acidA receptor subunits.";
Mol. Pharmacol. 37:652-657(1990).
[5]
NUCLEOTIDE SEQUENCE [MRNA] OF 404-434, AND VARIANT GLN-421.
PubMed=8178835 [NCBI, ExPASy, EBI, Israel, Japan]
Coon H., Sobell J., Heston L., Sommer S., Hoff M., Holik J., Umar F., Robertson M., Reimherr F., Wender P.;
"Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia.";
Am. J. Med. Genet. 54:12-20(1994).
[6]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-448, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1021/pr070152u; PubMed=17924679 [NCBI, ExPASy, EBI, Israel, Japan]
Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.;
"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.";
J. Proteome Res. 6:4150-4162(2007).
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
X14767; CAA32875.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
M59216; AAA35862.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
M59212; AAA35862.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
M59214; AAA35862.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
M59215; AAA35862.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC022449; AAH22449.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
S70733; AAB30712.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR A40336; A40336.
RefSeq NP_000803.2; -.
UniGene Hs.27283
3D structure databases
ModBase P18505.
PTM databases
PhosphoSite P18505; -.
Organism-specific databases
HGNC HGNC:4081; GABRB1.
GenAtlas GABRB1.
MIM 137190; gene. [NCBI / EBI]
PharmGKB PA28495; -.
GeneCards P18505.
Gene expression databases
ArrayExpress P18505; -.
CleanEx HS_GABRB1; -.
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 P18505.
Genome annotation databases
Ensembl ENSG00000163288; Homo sapiens. [Contig view]
GeneID 2560; -.
KEGG hsa:2560; -.
Phylogenomic databases
HOGENOM P18505; -.
HOVERGEN P18505; -.
Other
DrugBank DB00189; Ethchlorvynol.
DB00690; Flurazepam.
DB00186; Lorazepam.
DB00683; Midazolam.
SOURCE GABRB1; Homo sapiens.
ProtoNet P18505.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Cell junction; Cell membrane; Chloride; Chloride channel; Glycoprotein; Ion transport; Ionic channel; Membrane; Phosphoprotein; Polymorphism; 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   474  449     Gamma-aminobutyric acid receptor subunit beta-1. PRO_0000000456
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   451  124     Cytoplasmic (Probable). 
TRANSMEM   452   473  22     Probable. 
MOD_RES   448   448        Phosphoserine. 
CARBOHYD   105   105        N-linked (GlcNAc...) (Potential). 
CARBOHYD   174   174        N-linked (GlcNAc...) (Potential). 
DISULFID   161   175        By similarity. 
VARIANT   421   421  1     H -> Q (found in 1.1% of population and in some schizophrenic patients; dbSNP:rs41311286 [NCBI]). VAR_000302 
VARIANT   429   429  1     I -> N (in dbSNP:rs17852014 [NCBI]). VAR_035441 
CONFLICT   35    35        S -> P (in Ref. 1; CAA32875). 
CONFLICT   117   117        W -> C (in Ref. 3; AAH22449). 
Sequence information
Length: 474 AA [This is the length of the unprocessed precursor] Molecular weight: 54235 Da [This is the MW of the unprocessed precursor] CRC64: 05DA70F6FCD04E54 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MWTVQNRESL GLLSFPVMIT MVCCAHSTNE PSNMSYVKET VDRLLKGYDI RLRPDFGGPP 

        70         80         90        100        110        120 
VDVGMRIDVA SIDMVSEVNM DYTLTMYFQQ SWKDKRLSYS GIPLNLTLDN RVADQLWVPD 

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

       190        200        210        220        230        240 
SYGYTTDDIE FYWNGGEGAV TGVNKIELPQ FSIVDYKMVS KKVEFTTGAY PRLSLSFRLK 

       250        260        270        280        290        300 
RNIGYFILQT YMPSTLITIL SWVSFWINYD ASAARVALGI TTVLTMTTIS THLRETLPKI 

       310        320        330        340        350        360 
PYVKAIDIYL MGCFVFVFLA LLEYAFVNYI FFGKGPQKKG ASKQDQSANE KNKLEMNKVQ 

       370        380        390        400        410        420 
VDAHGNILLS TLEIRNETSG SEVLTSVSDP KATMYSYDSA SIQYRKPLSS REAYGRALDR 

       430        440        450        460        470 
HGVPSKGRIR RRASQLKVKI PDLTDVNSID KWSRMFFPIT FSLFNVVYWL YYVH 

P18505 in FASTA format

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