LOCUS NP_000803 474 aa linear PRI 11-JUL-2008
DEFINITION gamma-aminobutyric acid (GABA) A receptor, beta 1 precursor [Homo
sapiens].
ACCESSION NP_000803
VERSION NP_000803.2 GI:194097327
DBSOURCE REFSEQ: accession NM_000812.3
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 474)
AUTHORS Saras,A., Gisselmann,G., Vogt-Eisele,A.K., Erlkamp,K.S., Kletke,O.,
Pusch,H. and Hatt,H.
TITLE Histamine action on vertebrate GABAA receptors: direct channel
gating and potentiation of GABA responses
JOURNAL J. Biol. Chem. 283 (16), 10470-10475 (2008)
PUBMED 18281286
REMARK GeneRIF: histamine modulates heteromultimeric GABA(A) receptors and
may thus represent an endogenous ligand for an allosteric site
REFERENCE 2 (residues 1 to 474)
AUTHORS Mishra,B.K., Wu,T., Belfer,I., Hodgkinson,C.A., Cohen,L.G.,
Kiselycznyk,C., Kingman,A., Keller,R.B., Yuan,Q., Goldman,D.,
Atlas,S.J. and Max,M.B.
TITLE Do motor control genes contribute to interindividual variability in
decreased movement in patients with pain?
JOURNAL Mol Pain 3, 20 (2007)
PUBMED 17655760
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 474)
AUTHORS Collins,A.L., Ma,D., Whitehead,P.L., Martin,E.R., Wright,H.H.,
Abramson,R.K., Hussman,J.P., Haines,J.L., Cuccaro,M.L.,
Gilbert,J.R. and Pericak-Vance,M.A.
TITLE Investigation of autism and GABA receptor subunit genes in multiple
ethnic groups
JOURNAL Neurogenetics 7 (3), 167-174 (2006)
PUBMED 16770606
REMARK GeneRIF: These results confirmed our earlier findings, indicating
GABRA4 and GABRB1 as genes contributing to autism susceptibility,
extending the effect to multiple ethnic groups and suggesting
seizures as a stratifying phenotype.
REFERENCE 4 (residues 1 to 474)
AUTHORS Kohnke,M., Schick,S., Lutz,U., Kohnke,A., Vonthein,R., Kolb,W. and
Batra,A.
TITLE The polymorphism GABABR1 T1974C[rs29230] of the GABAB receptor gene
is not associated with the diagnosis of alcoholism or alcohol
withdrawal seizures
JOURNAL Addict Biol 11 (2), 152-156 (2006)
PUBMED 16800828
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (residues 1 to 474)
AUTHORS Ren,L., Jin,L., Zhang,B., Jia,Y., Wu,L. and Shen,Y.
TITLE Lack of GABABR1 gene variation (G1465A) in a Chinese population
with temporal lobe epilepsy
JOURNAL Seizure 14 (8), 611-613 (2005)
PUBMED 16278087
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (residues 1 to 474)
AUTHORS Moss,S.J., Smart,T.G., Blackstone,C.D. and Huganir,R.L.
TITLE Functional modulation of GABAA receptors by cAMP-dependent protein
phosphorylation
JOURNAL Science 257 (5070), 661-665 (1992)
PUBMED 1323140
REFERENCE 7 (residues 1 to 474)
AUTHORS Moss,S.J., Doherty,C.A. and Huganir,R.L.
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
JOURNAL J. Biol. Chem. 267 (20), 14470-14476 (1992)
PUBMED 1321150
REFERENCE 8 (residues 1 to 474)
AUTHORS Dean,M., Lucas-Derse,S., Bolos,A., O'Brien,S.J., Kirkness,E.F.,
Fraser,C.M. and Goldman,D.
TITLE Genetic mapping of the beta 1 GABA receptor gene to human
chromosome 4, using a tetranucleotide repeat polymorphism
JOURNAL Am. J. Hum. Genet. 49 (3), 621-626 (1991)
PUBMED 1652891
REFERENCE 9 (residues 1 to 474)
AUTHORS Kirkness,E.F., Kusiak,J.W., Fleming,J.T., Menninger,J.,
Gocayne,J.D., Ward,D.C. and Venter,J.C.
TITLE Isolation, characterization, and localization of human genomic DNA
encoding the beta 1 subunit of the GABAA receptor (GABRB1)
JOURNAL Genomics 10 (4), 985-995 (1991)
PUBMED 1655634
REFERENCE 10 (residues 1 to 474)
AUTHORS 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.
TITLE Differential expression of gamma-aminobutyric acidA receptor
subunits
JOURNAL Mol. Pharmacol. 37 (5), 652-657 (1990)
PUBMED 2160058
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC352362.1, AK225167.1,
X14767.1 and AK225686.1.
On Jul 11, 2008 this sequence version replaced gi:4503863.
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.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..474
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="4"
/map="4p12"
Protein 1..474
/product="gamma-aminobutyric acid (GABA) A receptor, beta
1 precursor"
/calculated_mol_wt=54104
CDS 1..474
/gene="GABRB1"
/coded_by="NM_000812.3:375..1799"
/db_xref="CCDS:CCDS3474.1"
/db_xref="GeneID:2560"
/db_xref="HGNC:4081"
/db_xref="HPRD:15924"
/db_xref="MIM:137190"
ORIGIN
1 mwtvqnresl gllsfpvmit mvccahstne psnmsyvket vdrllkgydi rlrpdfggpp
61 vdvgmridva sidmvsevnm dytltmyfqq swkdkrlsys giplnltldn rvadqlwvpd
121 tyflndkksf vhgvtvknrm irlhpdgtvl yglritttaa cmmdlrrypl deqnctleie
181 sygyttddie fywnggegav tgvnkielpq fsivdykmvs kkvefttgay prlslsfrlk
241 rnigyfilqt ympstlitil swvsfwinyd asaarvalgi ttvltmttis thlretlpki
301 pyvkaidiyl mgcfvfvfla lleyafvnyi ffgkgpqkkg askqdqsane knklemnkvq
361 vdahgnills tleirnetsg sevltsvsdp katmysydsa siqyrkplss reaygraldr
421 hgvpskgrir rrasqlkvki pdltdvnsid kwsrmffpit fslfnvvywl yyvh
//