LOCUS NP_000802 453 aa linear PRI 28-JUL-2008
DEFINITION gamma-aminobutyric acid A receptor, alpha 6 precursor [Homo
sapiens].
ACCESSION NP_000802
VERSION NP_000802.2 GI:157389018
DBSOURCE REFSEQ: accession NM_000811.2
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 453)
AUTHORS Han,D.H., Bolo,N., Daniels,M.A., Lyoo,I.K., Min,K.J., Kim,C.H. and
Renshaw,P.F.
TITLE Craving for Alcohol and Food During Treatment for Alcohol
Dependence: Modulation by T Allele of 1519T>C GABA(A)alpha6
JOURNAL Alcohol. Clin. Exp. Res. (2008) In press
PUBMED 18616664
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 2 (residues 1 to 453)
AUTHORS Loh,E.W., Tang,N.L., Lee,D.T., Liu,S.I. and Stadlin,A.
TITLE Association analysis of GABA receptor subunit genes on 5q33 with
heroin dependence in a Chinese male population
JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B (4), 439-443
(2007)
PUBMED 17440936
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (residues 1 to 453)
AUTHORS Lee,Y.C., Wang,H.P., Chiu,H.M., Huang,S.P., Liao,S.C., Chen,M.F.,
Lin,J.T. and Wu,M.S.
TITLE GABRA6 genetic polymorphism is associated with the risk of
functional heartburn in Chinese
JOURNAL J. Gastroenterol. Hepatol. 22 (2), 227-233 (2007)
PUBMED 17295876
REMARK GeneRIF: Chinese patients with certain psychiatric characteristics
and GABRA6 heterozygosity are probably predisposed to functional
heartburn
GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (residues 1 to 453)
AUTHORS Kobayashi,Y., Akiyoshi,J., Kanehisa,M., Ichioka,S., Tanaka,Y.,
Tsuru,J., Hanada,H., Kodama,K., Isogawa,K. and Tsutsumi,T.
TITLE Lack of polymorphism in genes encoding mGluR 7, mGluR 8, GABA(A)
receptor alfa-6 subunit and nociceptin/orphanin FQ receptor and
panic disorder
JOURNAL Psychiatr. Genet. 17 (1), 9 (2007)
PUBMED 17167337
REMARK GeneRIF: Polymorphism not associated with panic disorder.
REFERENCE 5 (residues 1 to 453)
AUTHORS Park,C.S., Park,S.Y., Lee,C.S., Sohn,J.W., Hahn,G.H. and Kim,B.J.
TITLE Association between alcoholism and the genetic polymorphisms of the
GABAA receptor genes on chromosome 5q33-34 in Korean population
JOURNAL J. Korean Med. Sci. 21 (3), 533-538 (2006)
PUBMED 16778401
REMARK GeneRIF: polymorphisms of the GABAA alpha1 and GABAA alpha6
receptor gene may be associated with the development of alcoholism
and the GG genotype of the GABAA alpha1 receptor may cause early
onset and a severe type of alcoholism
GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (residues 1 to 453)
AUTHORS Comings,D.E., Gade-Andavolu,R., Gonzalez,N., Wu,S., Muhleman,D.,
Blake,H., Mann,M.B., Dietz,G., Saucier,G. and MacMurray,J.P.
TITLE A multivariate analysis of 59 candidate genes in personality
traits: the temperament and character inventory
JOURNAL Clin. Genet. 58 (5), 375-385 (2000)
PUBMED 11140838
REMARK GeneRIF: Observational study of gene-disease association and
gene-gene interaction. (HuGE Navigator)
REFERENCE 7 (residues 1 to 453)
AUTHORS Russek,S.J.
TITLE Evolution of GABA(A) receptor diversity in the human genome
JOURNAL Gene 227 (2), 213-222 (1999)
PUBMED 10023064
REFERENCE 8 (residues 1 to 453)
AUTHORS Hadingham,K.L., Garrett,E.M., Wafford,K.A., Bain,C., Heavens,R.P.,
Sirinathsinghji,D.J. and Whiting,P.J.
TITLE Cloning of cDNAs encoding the human gamma-aminobutyric acid type A
receptor alpha 6 subunit and characterization of the pharmacology
of alpha 6-containing receptors
JOURNAL Mol. Pharmacol. 49 (2), 253-259 (1996)
PUBMED 8632757
REFERENCE 9 (residues 1 to 453)
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 10 (residues 1 to 453)
AUTHORS Hicks,A.A., Bailey,M.E., Riley,B.P., Kamphuis,W., Siciliano,M.J.,
Johnson,K.J. and Darlison,M.G.
TITLE Further evidence for clustering of human GABAA receptor subunit
genes: localization of the alpha 6-subunit gene (GABRA6) to distal
chromosome 5q by linkage analysis
JOURNAL Genomics 20 (2), 285-288 (1994)
PUBMED 8020978
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA068807.1, BC096241.3 and
AC091944.2.
On Sep 20, 2007 this sequence version replaced gi:4557607.
Summary: 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. At least 16 distinct subunits of
GABA-A receptors have been identified. [provided by RefSeq].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data because transcript sequence consistent with
the reference genome assembly was not available for all regions of
the RefSeq transcript. The extent of this transcript is supported
by transcript alignments.
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..453
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q34"
Protein 1..453
/product="gamma-aminobutyric acid A receptor, alpha 6
precursor"
/note="GABA subunit A receptor alpha 6"
sig_peptide 1..19
/calculated_mol_wt=2131
mat_peptide 20..453
/product="gamma-aminobutyric acid A receptor, alpha 6"
/calculated_mol_wt=48912
CDS 1..453
/gene="GABRA6"
/gene_synonym="MGC116903"
/gene_synonym="MGC116904"
/coded_by="NM_000811.2:339..1700"
/db_xref="CCDS:CCDS4356.1"
/db_xref="GeneID:2559"
/db_xref="HGNC:4080"
/db_xref="HPRD:08841"
/db_xref="MIM:137143"
ORIGIN
1 masslpwlci ilwlenalgk levegnfyse nvsrildnll egydnrlrpg fggavtevkt
61 diyvtsfgpv sdvemeytmd vffrqtwtde rlkfggptei lslnnlmvsk iwtpdtffrn
121 gkksiahnmt tpnklfrimq ngtilytmrl tinadcpmrl vnfpmdghac plkfgsyayp
181 kseiiytwkk gplysvevpe esssllqydl igqtvsseti ksntgeyvim tvyfhlqrkm
241 gyfmiqiytp cimtvilsqv sfwinkesvp artvfgittv ltmttlsisa rhslpkvsya
301 tamdwfiavc fafvfsalie faavnyftnl qtqkakrkaq faapptvtis katepleaei
361 vlhpdskyhl kkritslslp ivssseankv ltrapilqst pvtppplspa fggtskidqy
421 srilfpvafa gfnlvywvvy lskdtmevss sve
//