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Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_000812 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA. Full Lenth $645.54
ORF Sequence $413.25


RefSeq Version NM_000812.3, 194097326
Length 2226 bp
Structure linear
Update Date 12-MAR-2011
Organism Homo sapiens (human)
Definition Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.
Product gamma-aminobutyric acid receptor subunit beta-1 precursor
Comment

Summary: The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq].

RefSeq NP_000803.2
CDS 375..1799
Exon (1)1..454
Exon (2)1..454
Exon (3)455..546
Exon (4)547..614
Exon (5)615..835
Exon (6)836..918
Exon (7)919..1056
Exon (8)1057..1209
Exon (9)1210..1454
Exon (10)1455..2226
Translation MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRLLKGYDIRLRPDFGGPP VDVGMRIDVASIDMVSEVNMDYTLTMYFQQSWKDKRLSYSGIPLNLTLDNRVADQLWVPD TYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIE SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLK RNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGITTVLTMTTISTHLRETLPKI PYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDR HGVPSKGRIRRRASQLKVKIPDLTDVNSIDKWSRMFFPITFSLFNVVYWLYYVH
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Position Chain Variation Link
268+c, tdbSNP:80151988
629+c, tdbSNP:75042373
650+a, gdbSNP:79354288
696+c, tdbSNP:76009420
882+c, tdbSNP:4482737
890+a, gdbSNP:3822111
911+a, cdbSNP:6284
992+c, tdbSNP:6286
1002+c, tdbSNP:77043713
1046+a, gdbSNP:75190241
1094+g, tdbSNP:79937555
1148+a, tdbSNP:74488269
1220+a, gdbSNP:6289
1253+c, tdbSNP:80178222
1255+, gdbSNP:35402897
1349+c, tdbSNP:6290
1361+c, tdbSNP:115114447
1466+c, tdbSNP:112966893
1476+a, cdbSNP:75836800
1489+c, tdbSNP:79581540
1524+c, tdbSNP:76224883
1548+a, gdbSNP:77881121
1622+c, tdbSNP:78444131
1637+c, gdbSNP:41311286
1656+c, tdbSNP:78133797
1660+a, tdbSNP:17852014
1673+a, cdbSNP:116969944
1695+c, tdbSNP:76685630
1703+a, gdbSNP:6288
1712+a, gdbSNP:79262532
1723+a, gdbSNP:74608570
1747+c, tdbSNP:75612351
1760..1761+, gdbSNP:34208698
1781+g, tdbSNP:78815529
1976+, adbSNP:111359296
2069+a, gdbSNP:10028945
2103..2104+, tdbSNP:3832300
2217..2218+, adbSNP:11448552
2219+, adbSNP:67360402
2220+, a, aadbSNP:11313215
2226+a, cdbSNP:11731834
2226+, cdbSNP:67075785
Gene SymbolGABRB1
Gene SynonymGABRB1
Chromosome4
Locus Map4p12
All Transcripts NM_000812
Title Association study of 182 candidate genes in anorexia nervosa .
Author Pinheiro,A.P., Bulik,C.M., Thornton,L.M., Sullivan,P.F., Root,T.L., Bloss,C.S., Berrettini,W.H., Schork,N.J., Kaye,W.H., Bergen,A.W., Magistretti,P., Brandt,H., Crawford,S., Crow,S., Fichter,M.M., Goldman,D., Halmi,K.A., Johnson,C., Kaplan,A.S., Keel,P.K., Klump,K.L., La Via,M., Mitchell,J.E., Strober,M., Rotondo,A., Treasure,J. and Woodside,D.B.
Journal Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (5), 1070-1080 (2010)
Title Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score .
Author Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R.
Journal Mol. Med. 16 (7-8), 247-253 (2010)
Title Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype .
Author Craddock,N., Jones,L., Jones,I.R., Kirov,G., Green,E.K., Grozeva,D., Moskvina,V., Nikolov,I., Hamshere,M.L., Vukcevic,D., Caesar,S., Gordon-Smith,K., Fraser,C., Russell,E., Norton,N., Breen,G., St Clair,D., Collier,D.A., Young,A.H., Ferrier,I.N., Farmer,A., McGuffin,P., Holmans,P.A., Donnelly,P., Owen,M.J. and O'Donovan,M.C.
Journal Mol. Psychiatry 15 (2), 146-153 (2010)
Title Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept .
Author Hamshere,M.L., Green,E.K., Jones,I.R., Jones,L., Moskvina,V., Kirov,G., Grozeva,D., Nikolov,I., Vukcevic,D., Caesar,S., Gordon-Smith,K., Fraser,C., Russell,E., Breen,G., St Clair,D., Collier,D.A., Young,A.H., Ferrier,I.N., Farmer,A., McGuffin,P., Holmans,P.A., Owen,M.J., O'Donovan,M.C. and Craddock,N.
Journal Br J Psychiatry 195 (1), 23-29 (2009)
Title Genetical genomic determinants of alcohol consumption in rats and humans .
Author Tabakoff,B., Saba,L., Printz,M., Flodman,P., Hodgkinson,C., Goldman,D., Koob,G., Richardson,H.N., Kechris,K., Bell,R.L., Hubner,N., Heinig,M., Pravenec,M., Mangion,J., Legault,L., Dongier,M., Conigrave,K.M., Whitfield,J.B., Saunders,J., Grant,B. and Hoffman,P.L.
Journal BMC Biol. 7, 70 (2009)
Title Functional modulation of GABAA receptors by cAMP-dependent protein phosphorylation .
Author Moss,S.J., Smart,T.G., Blackstone,C.D. and Huganir,R.L.
Journal Science 257 (5070), 661-665 (1992)
Title Identification of the cAMP-dependent protein kinase and protein kinase C phosphorylation sites within the major intracellular domains of the beta 1, gamma 2S, and gamma 2L subunits of the gamma-aminobutyric acid type A receptor .
Author Moss,S.J., Doherty,C.A. and Huganir,R.L.
Journal J. Biol. Chem. 267 (20), 14470-14476 (1992)
Title Genetic mapping of the beta 1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphism .
Author Dean,M., Lucas-Derse,S., Bolos,A., O'Brien,S.J., Kirkness,E.F., Fraser,C.M. and Goldman,D.
Journal Am. J. Hum. Genet. 49 (3), 621-626 (1991)
Title Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1) .
Author Kirkness,E.F., Kusiak,J.W., Fleming,J.T., Menninger,J., Gocayne,J.D., Ward,D.C. and Venter,J.C.
Journal Genomics 10 (4), 985-995 (1991)
Title Differential expression of gamma-aminobutyric acidA receptor subunits .
Author Garrett,K.M., Saito,N., Duman,R.S., Abel,M.S., Ashton,R.A., Fujimori,S., Beer,B., Tallman,J.F., Vitek,M.P. and Blume,A.J.
Journal Mol. Pharmacol. 37 (5), 652-657 (1990)

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