LOCUS NP_000805 473 aa linear PRI 23-NOV-2008
DEFINITION gamma-aminobutyric acid (GABA) A receptor, beta 3 isoform 1
precursor [Homo sapiens].
ACCESSION NP_000805
VERSION NP_000805.1 GI:4503867
DBSOURCE REFSEQ: accession NM_000814.4
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 473)
AUTHORS Vieira,A.R., McHenry,T.G., Daack-Hirsch,S., Murray,J.C. and
Marazita,M.L.
TITLE Candidate gene/loci studies in cleft lip/palate and dental
anomalies finds novel susceptibility genes for clefts
JOURNAL Genet. Med. 10 (9), 668-674 (2008)
PUBMED 18978678
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (residues 1 to 473)
AUTHORS Tanaka,M., Olsen,R.W., Medina,M.T., Schwartz,E., Alonso,M.E.,
Duron,R.M., Castro-Ortega,R., Martinez-Juarez,I.E.,
Pascual-Castroviejo,I., Machado-Salas,J., Silva,R., Bailey,J.N.,
Bai,D., Ochoa,A., Jara-Prado,A., Pineda,G., Macdonald,R.L. and
Delgado-Escueta,A.V.
TITLE Hyperglycosylation and reduced GABA currents of mutated GABRB3
polypeptide in remitting childhood absence epilepsy
JOURNAL Am. J. Hum. Genet. 82 (6), 1249-1261 (2008)
PUBMED 18514161
REMARK GeneRIF: Mutated GABRB3 could cause absence seizures through a gain
in glycosylation of mutated exon 1a and exon 2, affecting
maturation and trafficking of GABAR from endoplasmic reticulum to
cell surface and resulting in reduced GABA-evoked currents.
REFERENCE 3 (residues 1 to 473)
AUTHORS Inoue,H., Kayano,S., Aoki,Y., Kure,S., Yamada,A., Hata,A.,
Matsubara,Y. and Suzuki,Y.
TITLE Association of the GABRB3 gene with nonsyndromic oral clefts
JOURNAL Cleft Palate Craniofac. J. 45 (3), 261-266 (2008)
PUBMED 18452349
REMARK GeneRIF: gene is involved in the pathogenesis of cleft lip with or
without cleft palate in the Japanese population
GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (residues 1 to 473)
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 5 (residues 1 to 473)
AUTHORS Namkoong,K., Cheon,K.A., Kim,J.W., Jun,J.Y. and Lee,J.Y.
TITLE Association study of dopamine D2, D4 receptor gene, GABAA receptor
beta subunit gene, serotonin transporter gene polymorphism with
children of alcoholics in Korea: a preliminary study
JOURNAL Alcohol 42 (2), 77-81 (2008)
PUBMED 18358985
REMARK GeneRIF: The G1- alleles of the GABRB3 in children of alcoholics
were significantly higher than nonCOAs.
GeneRIF: Observational study of gene-disease association and
gene-gene interaction. (HuGE Navigator)
REFERENCE 6 (residues 1 to 473)
AUTHORS Russek,S.J. and Farb,D.H.
TITLE Mapping of the beta 2 subunit gene (GABRB2) to microdissected human
chromosome 5q34-q35 defines a gene cluster for the most abundant
GABAA receptor isoform
JOURNAL Genomics 23 (3), 528-533 (1994)
PUBMED 7851879
REFERENCE 7 (residues 1 to 473)
AUTHORS Knoll,J.H., Cheng,S.D. and Lalande,M.
TITLE Allele specificity of DNA replication timing in the
Angelman/Prader-Willi syndrome imprinted chromosomal region
JOURNAL Nat. Genet. 6 (1), 41-46 (1994)
PUBMED 8136833
REFERENCE 8 (residues 1 to 473)
AUTHORS Saitoh,S., Kubota,T., Ohta,T., Jinno,Y., Niikawa,N., Sugimoto,T.,
Wagstaff,J. and Lalande,M.
TITLE Familial Angelman syndrome caused by imprinted submicroscopic
deletion encompassing GABAA receptor beta 3-subunit gene
JOURNAL Lancet 339 (8789), 366-367 (1992)
PUBMED 1346439
REFERENCE 9 (residues 1 to 473)
AUTHORS Wagstaff,J., Chaillet,J.R. and Lalande,M.
TITLE The GABAA receptor beta 3 subunit gene: characterization of a human
cDNA from chromosome 15q11q13 and mapping to a region of conserved
synteny on mouse chromosome 7
JOURNAL Genomics 11 (4), 1071-1078 (1991)
PUBMED 1664410
REFERENCE 10 (residues 1 to 473)
AUTHORS Wagstaff,J., Knoll,J.H., Fleming,J., Kirkness,E.F.,
Martin-Gallardo,A., Greenberg,F., Graham,J.M. Jr., Menninger,J.,
Ward,D., Venter,J.C. et al.
TITLE Localization of the gene encoding the GABAA receptor beta 3 subunit
to the Angelman/Prader-Willi region of human chromosome 15
JOURNAL Am. J. Hum. Genet. 49 (2), 330-337 (1991)
PUBMED 1714232
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC104569.7, M82919.1 and
AC009878.9.
Summary: This gene encodes a member of the ligand-gated ionic
channel family. The encoded protein is one of at least 13 distinct
subunits of a multisubunit chloride channel that serves as the
receptor for gamma-aminobutyric acid, the major inhibitory
transmitter of the nervous system. This gene is located on the long
arm of chromosome 15 in a cluster with two genes encoding related
subunits of the family. Mutations in this gene may be associated
with the pathogenesis of Angelman syndrome, Prader-Willi syndrome,
and autism. Alternatively spliced transcript variants encoding
isoforms with distinct signal peptides have been described.
[provided by RefSeq].
Transcript Variant: This variant (1) represents the longer
transcript. Variants 1 and 2 encode isoforms of the same length but
with distinct signal peptides.
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..473
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q11.2-q12"
Protein 1..473
/product="gamma-aminobutyric acid (GABA) A receptor, beta
3 isoform 1 precursor"
/note="GABA-A receptor beta-3 subunit; GABA(A) receptor
beta-3 subunit; GABA-alpha receptor beta-2 subunit; GABAA
receptor beta-3 subunit"
sig_peptide 1..25
/calculated_mol_wt=2538
mat_peptide 26..473
/product="gamma-aminobutyric acid (GABA) A receptor, beta
3"
/calculated_mol_wt=51596
CDS 1..473
/gene="GABRB3"
/gene_synonym="ECA5"
/gene_synonym="MGC9051"
/coded_by="NM_000814.4:143..1564"
/note="isoform 1 precursor is encoded by transcript
variant 1"
/db_xref="CCDS:CCDS10019.1"
/db_xref="GeneID:2562"
/db_xref="HGNC:4083"
/db_xref="MIM:137192"
ORIGIN
1 mwglaggrlf gifsapvlva vvccaqsvnd pgnmsfvket vdkllkgydi rlrpdfggpp
61 vcvgmnidia sidmvsevnm dytltmyfqq ywrdkrlays giplnltldn rvadqlwvpd
121 tyflndkksf vhgvtvknrm irlhpdgtvl yglritttaa cmmdlrrypl deqnctleie
181 sygyttddie fywrggdkav tgverielpq fsivehrlvs rnvvfatgay prlslsfrlk
241 rnigyfilqt ympsilitil swvsfwinyd asaarvalgi ttvltmttin thlretlpki
301 pyvkaidmyl mgcfvfvfla lleyafvnyi ffgrgpqrqk klaektakak ndrsksesnr
361 vdahgnillt slevhnemne vsggigdtrn saisfdnsgi qyrkqsmpre ghgrflgdrs
421 lphkkthlrr rssqlkikip dltdvnaidr wsrivfpftf slfnlvywly yvn
//