LOCUS NP_000797 456 aa linear PRI 21-SEP-2008
DEFINITION gamma-aminobutyric acid (GABA) A receptor, alpha 1 precursor [Homo
sapiens].
ACCESSION NP_000797
VERSION NP_000797.2 GI:38327554
DBSOURCE REFSEQ: accession NM_000806.5
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 456)
AUTHORS Bradley,C.A., Taghibiglou,C., Collingridge,G.L. and Wang,Y.T.
TITLE Mechanisms involved in the reduction of GABAA receptor
alpha1-subunit expression caused by the epilepsy mutation A322D in
the trafficking-competent receptor
JOURNAL J. Biol. Chem. 283 (32), 22043-22050 (2008)
PUBMED 18534981
REMARK GeneRIF: GABAA receptor alpha1-subunit epilepsy mutation A322D
results in receptors that are inserted into the plasma membrane but
are more rapidly endocytosed by a dynamin and caveolin1-dependent
mechanism
REFERENCE 2 (residues 1 to 456)
AUTHORS Yang,L. and Sonner,J.M.
TITLE The anesthetic-like effects of diverse compounds on wild-type and
mutant gamma-aminobutyric acid type A and glycine receptors
JOURNAL Anesth. Analg. 106 (3), 838-845 (2008)
PUBMED 18292428
REMARK GeneRIF: Using wild type/mutated receptor subunits to identify
compounds with anesthetic effect.
REFERENCE 3 (residues 1 to 456)
AUTHORS Trudell,J.R., Yue,M.E., Bertaccini,E.J., Jenkins,A. and
Harrison,N.L.
TITLE Molecular modeling and mutagenesis reveals a tetradentate binding
site for Zn2+ in GABA(A) alphabeta receptors and provides a
structural basis for the modulating effect of the gamma subunit
JOURNAL J Chem Inf Model 48 (2), 344-349 (2008)
PUBMED 18197653
REMARK GeneRIF: built homology models of the ion pores of alpha1beta2 and
alpha1beta2gamma2 GABA(A)-R using coordinates of the nicotinic
acetylcholine receptor as a template to determine details about the
zinc binding site
REFERENCE 4 (residues 1 to 456)
AUTHORS Bartocci,A., Elia,M., Cali,F., Tiacci,C., Cantisani,A.T. and
Perticoni,G.
TITLE Juvenile myoclonic epilepsy with generalised and focal
electroencephalographic abnormalities: a case report with a
molecular genetic study
JOURNAL Neurol. Sci. 28 (5), 276-278 (2007)
PUBMED 17972043
REMARK GeneRIF: In this case of juvenile myoclonic epilepsy , A molecular
genetic analysis led to the identification of a polymorphism
(T-->C) of the exon of the GABRA1 gene, without aminoacidic
exchange.
REFERENCE 5 (residues 1 to 456)
AUTHORS Shang,H., Lang,D., Burgunder,J.M. and Kaelin-Lang,A.
TITLE Screening of GABA(A)-receptor gene mutations in primary dystonia
JOURNAL Eur. J. Neurol. 14 (10), 1179-1181 (2007)
PUBMED 17880575
REMARK GeneRIF: study found mutations of GABRA1, GABRB3, and GABRG2 appear
not to play a major role in the development of familial primary
dystonia
GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (residues 1 to 456)
AUTHORS Togel,M., Mossier,B., Fuchs,K. and Sieghart,W.
TITLE gamma-Aminobutyric acidA receptors displaying association of gamma
3-subunits with beta 2/3 and different alpha-subunits exhibit
unique pharmacological properties
JOURNAL J. Biol. Chem. 269 (17), 12993-12998 (1994)
PUBMED 8175718
REFERENCE 7 (residues 1 to 456)
AUTHORS Kang,I., Lindquist,D.G., Kinane,T.B., Ercolani,L., Pritchard,G.A.
and Miller,L.G.
TITLE Isolation and characterization of the promoter of the human GABAA
receptor alpha 1 subunit gene
JOURNAL J. Neurochem. 62 (4), 1643-1646 (1994)
PUBMED 8133292
REFERENCE 8 (residues 1 to 456)
AUTHORS Johnson,K.J., Sander,T., Hicks,A.A., van Marle,A., Janz,D.,
Mullan,M.J., Riley,B.P. and Darlison,M.G.
TITLE Confirmation of the localization of the human GABAA receptor alpha
1-subunit gene (GABRA1) to distal 5q by linkage analysis
JOURNAL Genomics 14 (3), 745-748 (1992)
PUBMED 1330891
REFERENCE 9 (residues 1 to 456)
AUTHORS Schofield,P.R., Pritchett,D.B., Sontheimer,H., Kettenmann,H. and
Seeburg,P.H.
TITLE Sequence and expression of human GABAA receptor alpha 1 and beta 1
subunits
JOURNAL FEBS Lett. 244 (2), 361-364 (1989)
PUBMED 2465923
REFERENCE 10 (residues 1 to 456)
AUTHORS Garrett,K.M., Duman,R.S., Saito,N., Blume,A.J., Vitek,M.P. and
Tallman,J.F.
TITLE Isolation of a cDNA clone for the alpha subunit of the human GABA-A
receptor
JOURNAL Biochem. Biophys. Res. Commun. 156 (2), 1039-1045 (1988)
PUBMED 2847710
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK289792.1, X14766.1 and
AC021079.4.
On Nov 14, 2003 this sequence version replaced gi:4503859.
Summary: This gene encodes a gamma-aminobutyric acid (GABA)
receptor. GABA is the major inhibitory neurotransmitter in the
mammalian brain where it acts at GABA-A receptors, which are
ligand-gated chloride channels. Chloride conductance of these
channels can be modulated by agents such as benzodiazepines that
bind to the GABA-A receptor. GABA-A receptors are pentameric,
consisting of proteins from several subunit classes: alpha, beta,
gamma, delta and rho. Mutations in this gene cause juvenile
myoclonic epilepsy and childhood absence epilepsy type 4. Multiple
transcript variants encoding the same protein have been identified
for this gene. [provided by RefSeq].
Transcript Variant: This variant (1) uses the 5'-most alternate
exon in the 5' UTR. Variants 1-7 encode the same protein.
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..456
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q34-q35"
Protein 1..456
/product="gamma-aminobutyric acid (GABA) A receptor, alpha
1 precursor"
/calculated_mol_wt=51671
CDS 1..456
/gene="GABRA1"
/gene_synonym="EJM"
/gene_synonym="ECA4"
/coded_by="NM_000806.5:469..1839"
/db_xref="CCDS:CCDS4357.1"
/db_xref="GeneID:2554"
/db_xref="HGNC:4075"
/db_xref="HPRD:00662"
/db_xref="MIM:137160"
ORIGIN
1 mrkspglsdc lwawilllst ltgrsygqps lqdelkdntt vftrildrll dgydnrlrpg
61 lgervtevkt difvtsfgpv sdhdmeytid vffrqswkde rlkfkgpmtv lrlnnlmask
121 iwtpdtffhn gkksvahnmt mpnkllrite dgtllytmrl tvraecpmhl edfpmdahac
181 plkfgsyayt raevvyewtr eparsvvvae dgsrlnqydl lgqtvdsgiv qsstgeyvvm
241 tthfhlkrki gyfviqtylp cimtvilsqv sfwlnresvp artvfgvttv ltmttlsisa
301 rnslpkvaya tamdwfiavc yafvfsalie fatvnyftkr gyawdgksvv pekpkkvkdp
361 likknntyap tatsytpnla rgdpglatia ksatiepkev kpetkppepk ktfnsvskid
421 rlsriafpll fgifnlvywa tylnrepqlk aptphq
//