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


RefSeq Accession Definition Services Price Order
NM_000812 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA. ORF Sequence $413.25
Peptide Services
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Protein Services


RefSeq Version NM_000812.3, 194097326
Length 2226 bp
Structure linear
Update Date 17-APR-2013
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, Jul 2008].

RefSeq NP_000803.2
CDS 375..1799
Misc Feature(1)360..362
Misc Feature(2)399..1790
Misc Feature(3)495..1103
Misc Feature(4)1110..1175
Misc Feature(5)1122..1781
Misc Feature(6)1185..1253
Misc Feature(7)1287..1355
Misc Feature(8)1728..1793
Exon (1)1..454
Gene:GABRB1
Gene Synonym:GABRB1
Exon (2)455..546
Gene:GABRB1
Gene Synonym:GABRB1
Exon (3)547..614
Gene:GABRB1
Gene Synonym:GABRB1
Exon (4)615..835
Gene:GABRB1
Gene Synonym:GABRB1
Exon (5)836..918
Gene:GABRB1
Gene Synonym:GABRB1
Exon (6)919..1056
Gene:GABRB1
Gene Synonym:GABRB1
Exon (7)1057..1209
Gene:GABRB1
Gene Synonym:GABRB1
Exon (8)1210..1454
Gene:GABRB1
Gene Synonym:GABRB1
Exon (9)1455..2226
Gene:GABRB1
Gene Synonym:GABRB1
Translation MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRLLKGYDIRLRPDFGGPP VDVGMRIDVASIDMVSEVNMDYTLTMYFQQSWKDKRLSYSGIPLNLTLDNRVADQLWVPD TYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIE SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLK RNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGITTVLTMTTISTHLRETLPKI PYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDR HGVPSKGRIRRRASQLKVKIPDLTDVNSIDKWSRMFFPITFSLFNVVYWLYYVH
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Position Chain Variation Link
29..30+dbSNP:
29..30+, adbSNP:140732048
115+c, tdbSNP:142473173
268+c, tdbSNP:80151988
286+g, tdbSNP:151300023
292+g, tdbSNP:140573802
408+c, tdbSNP:199819422
460+dbSNP:
460+a, gdbSNP:148675961
537+a, gdbSNP:142160221
593+dbSNP:
593+c, tdbSNP:151171426
629+dbSNP:
629+c, tdbSNP:75042373
650+a, gdbSNP:79354288
674+c, tdbSNP:146577991
696+c, tdbSNP:76009420
782+a, gdbSNP:145050185
788+c, tdbSNP:147553239
790+a, gdbSNP:200428754
791+a, gdbSNP:141944755
882+dbSNP:
882+c, tdbSNP:4482737
890+a, gdbSNP:3822111
911+a, cdbSNP:6284
992+dbSNP:
992+c, tdbSNP:6286
1002+c, tdbSNP:77043713
1046+a, gdbSNP:75190241
1061+dbSNP:
1061+a, gdbSNP:138912086
1094+g, tdbSNP:79937555
1148+a, tdbSNP:74488269
1184+c, tdbSNP:188599287
1220+dbSNP:
1220+a, gdbSNP:6289
1253+c, tdbSNP:80178222
1255+, gdbSNP:35402897
1349+c, tdbSNP:6290
1361+c, tdbSNP:115114447
1375+a, gdbSNP:142758601
1407+a, gdbSNP:150598937
1466+dbSNP:
1466+c, tdbSNP:112966893
1476+a, cdbSNP:75836800
1482+a, gdbSNP:139599779
1489+c, tdbSNP:79581540
1502+a, tdbSNP:200146996
1524+c, tdbSNP:76224883
1548+a, gdbSNP:77881121
1555+a, tdbSNP:149298100
1572+g, tdbSNP:144532495
1610+a, gdbSNP:187519096
1615+a, gdbSNP:148433093
1622+c, tdbSNP:78444131
1633+c, gdbSNP:200129765
1637+c, gdbSNP:41311286
1651+a, gdbSNP:147587936
1656+c, tdbSNP:78133797
1660+a, tdbSNP:17852014
1661+a, cdbSNP:140338802
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
2003+c, gdbSNP:192098838
2069+a, gdbSNP:10028945
2098..2099+, tdbSNP:149797444
2100..2101+, tdbSNP:3832300
2177+c, tdbSNP:147193608
2210..2211+, adbSNP:11448552
2210+, adbSNP:59682924
2220+, a, aadbSNP:11313215
2226+a, cdbSNP:11731834
2226+, cdbSNP:67075785
Gene SymbolGABRB1
Gene SynonymGABRB1
Chromosome4
Locus Map4p12
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000812 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA. Full Length $645.54
ORF Sequence $413.25
Title Amygdala gene expression of NMDA and GABA(A) receptors in patients with mesial temporal lobe epilepsy .
Author de Moura,J.C., Tirapelli,D.P., Neder,L., Saggioro,F.P., Sakamoto,A.C., Velasco,T.R., Panepucci,R.A., Leite,J.P., Assirati Junior,J.A., Colli,B.O. and Carlotti Junior,C.G.
Journal Hippocampus 22 (1), 92-97 (2012)
Title [The expression of GABA(A) receptor alpha1 and GABA(B) receptor 1 in medulla oblongata solitary nucleus and ambiguous nucleus in the cases of tramadol intoxication] .
Author Zhang,S., Guan,D.W., Wang,L., Wang,H.X., Zhang,G.H., Zhao,R. and Fan,Y.Y.
Journal Fa Yi Xue Za Zhi 27 (6), 401-404 (2011)
Title New insight into the central benzodiazepine receptor-ligand interactions: design, synthesis, biological evaluation, and molecular modeling of 3-substituted 6-phenyl-4H-imidazo[1,5-a][1,4]benzodiazepines and related compounds .
Author Anzini,M., Valenti,S., Braile,C., Cappelli,A., Vomero,S., Alcaro,S., Ortuso,F., Marinelli,L., Limongelli,V., Novellino,E., Betti,L., Giannaccini,G., Lucacchini,A., Daniele,S., Martini,C., Ghelardini,C., Di Cesare Mannelli,L., Giorgi,G., Mascia,M.P. and Biggio,G.
Journal J. Med. Chem. 54 (16), 5694-5711 (2011)
Title Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia .
Author Beneyto,M., Abbott,A., Hashimoto,T. and Lewis,D.A.
Journal Cereb. Cortex 21 (5), 999-1011 (2011)
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 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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