2024-04-20 09:34:05, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_173536 6769 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. ACCESSION NM_173536 VERSION NM_173536.3 GI:59889570 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 6769) AUTHORS Ittiwut,C., Yang,B.Z., Kranzler,H.R., Anton,R.F., Hirunsatit,R., Weiss,R.D., Covault,J., Farrer,L.A. and Gelernter,J. TITLE GABRG1 and GABRA2 variation associated with alcohol dependence in African Americans JOURNAL Alcohol. Clin. Exp. Res. 36 (4), 588-593 (2012) PUBMED 21919924 REMARK GeneRIF: we genotyped 13 single nucleotide polymorphisms spanning GABRG1 and GABRA2 in African Americans with alcohol dependence REFERENCE 2 (bases 1 to 6769) AUTHORS Bloss,C.S., Berrettini,W., Bergen,A.W., Magistretti,P., Duvvuri,V., Strober,M., Brandt,H., Crawford,S., Crow,S., Fichter,M.M., Halmi,K.A., Johnson,C., Kaplan,A.S., Keel,P., Klump,K.L., Mitchell,J., Treasure,J., Woodside,D.B., Marzola,E., Schork,N.J. and Kaye,W.H. TITLE Genetic association of recovery from eating disorders: the role of GABA receptor SNPs JOURNAL Neuropsychopharmacology 36 (11), 2222-2232 (2011) PUBMED 21750581 REMARK GeneRIF: An intronic single nucleotide polymorphism (SNP) (rs17536211) in GABRG1 shows the strongest statistical evidence of association of recovery from eating disorders. REFERENCE 3 (bases 1 to 6769) AUTHORS Green,E.K., Grozeva,D., Moskvina,V., Hamshere,M.L., Jones,I.R., Jones,L., Forty,L., Caesar,S., Gordon-Smith,K., Fraser,C., Russell,E., St Clair,D., Young,A.H., Ferrier,N., Farmer,A., McGuffin,P., Holmans,P.A., Owen,M.J., O'Donovan,M.C. and Craddock,N. TITLE Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (7), 1347-1349 (2010) PUBMED 20583128 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 6769) AUTHORS 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. TITLE Association study of 182 candidate genes in anorexia nervosa JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (5), 1070-1080 (2010) PUBMED 20468064 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 6769) AUTHORS Guilmatre,A., Dubourg,C., Mosca,A.L., Legallic,S., Goldenberg,A., Drouin-Garraud,V., Layet,V., Rosier,A., Briault,S., Bonnet-Brilhault,F., Laumonnier,F., Odent,S., Le Vacon,G., Joly-Helas,G., David,V., Bendavid,C., Pinoit,J.M., Henry,C., Impallomeni,C., Germano,E., Tortorella,G., Di Rosa,G., Barthelemy,C., Andres,C., Faivre,L., Frebourg,T., Saugier Veber,P. and Campion,D. TITLE Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation JOURNAL Arch. Gen. Psychiatry 66 (9), 947-956 (2009) PUBMED 19736351 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Review article REFERENCE 6 (bases 1 to 6769) AUTHORS Covault,J., Gelernter,J., Jensen,K., Anton,R. and Kranzler,H.R. TITLE Markers in the 5'-region of GABRG1 associate to alcohol dependence and are in linkage disequilibrium with markers in the adjacent GABRA2 gene JOURNAL Neuropsychopharmacology 33 (4), 837-848 (2008) PUBMED 17507911 REMARK GeneRIF: Logistic regression analysis indicated that genetic elements in the GABRG1 haplotype block likely contribute to alcohol dependence risk in an additive manner. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 7 (bases 1 to 6769) AUTHORS Ma,D.Q., Whitehead,P.L., Menold,M.M., Martin,E.R., Ashley-Koch,A.E., Mei,H., Ritchie,M.D., Delong,G.R., Abramson,R.K., Wright,H.H., Cuccaro,M.L., Hussman,J.P., Gilbert,J.R. and Pericak-Vance,M.A. TITLE Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism JOURNAL Am. J. Hum. Genet. 77 (3), 377-388 (2005) PUBMED 16080114 REMARK GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) REFERENCE 8 (bases 1 to 6769) AUTHORS Nymann-Andersen,J., Wang,H., Chen,L., Kittler,J.T., Moss,S.J. and Olsen,R.W. TITLE Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors JOURNAL J. Neurochem. 80 (5), 815-823 (2002) PUBMED 11948245 REFERENCE 9 (bases 1 to 6769) AUTHORS Bonnert,T.P., McKernan,R.M., Farrar,S., le Bourdelles,B., Heavens,R.P., Smith,D.W., Hewson,L., Rigby,M.R., Sirinathsinghji,D.J., Brown,N., Wafford,K.A. and Whiting,P.J. TITLE theta, a novel gamma-aminobutyric acid type A receptor subunit JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (17), 9891-9896 (1999) PUBMED 10449790 REFERENCE 10 (bases 1 to 6769) AUTHORS Wilcox,A.S., Warrington,J.A., Gardiner,K., Berger,R., Whiting,P., Altherr,M.R., Wasmuth,J.J., Patterson,D. and Sikela,J.M. TITLE Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (13), 5857-5861 (1992) PUBMED 1321425 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK122845.1 and AC095058.3. On Feb 16, 2005 this sequence version replaced gi:31742489. Summary: The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BX648937.1, AK122845.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1965 AK122845.1 17-1981 1966-6769 AC095058.3 124359-129162 c FEATURES Location/Qualifiers source 1..6769 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="4" /map="4p12" gene 1..6769 /gene="GABRG1" /note="gamma-aminobutyric acid (GABA) A receptor, gamma 1" /db_xref="GeneID:2565" /db_xref="HGNC:4086" /db_xref="HPRD:15923" /db_xref="MIM:137166" exon 1..256 /gene="GABRG1" /inference="alignment:Splign:1.39.8" misc_feature 123..125 /gene="GABRG1" /note="upstream in-frame stop codon" CDS 153..1550 /gene="GABRG1" /note="gamma-1 polypeptide; gamma-aminobutyric acid receptor subunit gamma-1; GABA(A) receptor subunit gamma-1; GABA(A) receptor, gamma" /codon_start=1 /product="gamma-aminobutyric acid receptor subunit gamma-1 precursor" /protein_id="NP_775807.2" /db_xref="GI:31742490" /db_xref="CCDS:CCDS3470.1" /db_xref="GeneID:2565" /db_xref="HGNC:4086" /db_xref="HPRD:15923" /db_xref="MIM:137166" /translation="
MGPLKAFLFSPFLLRSQSRGVRLVFLLLTLHLGNCVDKADDEDDEDLTVNKTWVLAPKIHEGDITQILNSLLQGYDNKLRPDIGVRPTVIETDVYVNSIGPVDPINMEYTIDIIFAQTWFDSRLKFNSTMKVLMLNSNMVGKIWIPDTFFRNSRKSDAHWITTPNRLLRIWNDGRVLYTLRLTINAECYLQLHNFPMDEHSCPLEFSSYGYPKNEIEYKWKKPSVEVADPKYWRLYQFAFVGLRNSTEITHTISGDYVIMTIFFDLSRRMGYFTIQTYIPCILTVVLSWVSFWINKDAVPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFAALMEYGTLHYFTSNQKGKTATKDRKLKNKASMTPGLHPGSTLIPMNNISVPQEDDYGYQCLEGKDCASFFCCFEDCRTGSWREGRIHIRIAKIDSYSRIFFPTAFALFNLVYWVGYLYL
" sig_peptide 153..257 /gene="GABRG1" /inference="COORDINATES: ab initio prediction:SignalP:4.0" misc_feature 345..962 /gene="GABRG1" /note="Neurotransmitter-gated ion-channel ligand binding domain; Region: Neur_chan_LBD; pfam02931" /db_xref="CDD:202473" misc_feature 348..1538 /gene="GABRG1" /note="Cation transporter family protein; Region: LIC; TIGR00860" /db_xref="CDD:162072" misc_feature 969..1034 /gene="GABRG1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N1C3.2); transmembrane region" misc_feature 981..1529 /gene="GABRG1" /note="Neurotransmitter-gated ion-channel transmembrane region; Region: Neur_chan_memb; pfam02932" /db_xref="CDD:202474" misc_feature 1047..1112 /gene="GABRG1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N1C3.2); transmembrane region" misc_feature 1146..1214 /gene="GABRG1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N1C3.2); transmembrane region" misc_feature 1485..1547 /gene="GABRG1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8N1C3.2); transmembrane region" exon 257..405 /gene="GABRG1" /inference="alignment:Splign:1.39.8" exon 406..473 /gene="GABRG1" /inference="alignment:Splign:1.39.8" exon 474..694 /gene="GABRG1" /inference="alignment:Splign:1.39.8" exon 695..777 /gene="GABRG1" /inference="alignment:Splign:1.39.8" exon 778..915 /gene="GABRG1" /inference="alignment:Splign:1.39.8" exon 916..1068 /gene="GABRG1" /inference="alignment:Splign:1.39.8" exon 1069..1283 /gene="GABRG1" /inference="alignment:Splign:1.39.8" exon 1284..6769 /gene="GABRG1" /inference="alignment:Splign:1.39.8" variation 1426 /gene="GABRG1" /replace="g" /replace="t" /db_xref="dbSNP:75184362" STS 3173..3398 /gene="GABRG1" /standard_name="RH106541" /db_xref="UniSTS:209618" STS 6262..6423 /gene="GABRG1" /standard_name="RH102865" /db_xref="UniSTS:97199" polyA_signal 6746..6751 /gene="GABRG1" polyA_site 6769 /gene="GABRG1" ORIGIN
aattctgctgggagtcgcatcctacctgtttgggaggtgcactgcctttccacactctcccttctgtactcagccagctgctgctgaggtgggaggaaaagtcctggctgggagaattgagctagtgcagcacacgtaaaaaagcgattccgatgggtcctttgaaagcttttctcttctccccttttcttctgcggagtcaaagtagaggggtgaggttggtcttcttgttactgaccctgcatttgggaaactgtgttgataaggcagatgatgaagatgatgaggatttaacggtgaacaaaacctgggtcttggccccaaaaattcatgaaggagatatcacacaaattctgaattcattgcttcaaggctatgacaataaacttcgtccagatataggagtgaggcccacagtaattgaaactgatgtttatgtaaacagcattggaccagttgatccaattaatatggaatatacaatagatataatttttgcccaaacctggtttgacagtcgtttaaaattcaatagtaccatgaaagtgcttatgcttaacagtaatatggttggaaaaatttggattcctgacactttcttcagaaactcaagaaaatctgatgctcactggataacaactcctaatcgtctgcttcgaatttggaatgatggacgagttctgtatactctaagattgacaattaatgcagaatgttatcttcagcttcataactttcccatggatgaacattcctgtccactggaattttcaagctatggataccctaaaaatgaaattgagtataagtggaaaaagccctccgtagaagtggctgatcctaaatactggagattatatcagtttgcatttgtagggttacggaactcaactgaaatcactcacacgatctctggggattatgttatcatgacaattttttttgacctgagcagaagaatgggatatttcactattcagacctacattccatgcattctgacagttgttctttcttgggtgtctttttggatcaataaagatgcagtgcctgcaagaacatcgttgggtatcactacagttctgactatgacaaccctgagtacaattgccaggaagtctttacctaaggtttcttatgtgactgcgatggatctctttgtttctgtttgtttcatttttgtttttgcagccttgatggaatatggaaccttgcattattttaccagcaaccaaaaaggaaagactgctactaaagacagaaagctaaaaaataaagcctcgatgactcctggtctccatcctggatccactctgattccaatgaataatatttctgtgccgcaagaagatgattatgggtatcagtgtttggagggcaaagattgtgccagcttcttctgttgctttgaagactgcagaacaggatcttggagggaaggaaggatacacatacgcattgccaaaattgactcttattctagaatatttttcccaaccgcttttgccctgttcaacttggtttattgggttggctatctttacttataaaatctacttcataagcaaaaatcaaaagaagtctgactaaattcagtagaatcttttgtgcttcagtaacttgaagtttaaatttaaaatgcagagagaccaatggttaaaatgtgaatagtattgtaactattttaaggccttcagaagtaaataaagtagcagctttcaggctaatttacgtgaaactgattagttgcaaaatccagtaggttaaaatactcacatatttttacttaaattttctttaatttacttatatgttattataattttgaatttttaagttctatgattcatgttttaaagatggaataattttaatacatattttgtttaaatataatctataattgttttgtaatgtaagactaattactaatatttatgtagcaacttttgtgccagaaaaaagactgttaatttgttttttcttgcttttcatttgattaccctgcttgaaatacagttagttgataacataaagccatagttttcttggattttcttccaagatattgtattcccaagaagaaattgatttatttttaaactatcagttactgaagacttatgaaaaggtcaatttttacctgtcttttaatccagtccattttctgacacaatattaaacagaacgccagttgcatttactttggtgatttgcaaacttggaatgaagccaccagtcattttttaagaatgcaagatgaaaaaatcaggtaaaatctaaccattttattctctgcttcatagcatttataatgtatgatgaggttaacactgaaatattaaaatctgcaaatgcacattaatgcaaattaaatgcagagagaaatgattatttttttctttatgttttatgaaagtgttgcagtccctaaaataaaaatattgaggaacattgcttgtatttactcacgtggttaaaaaattattacctggcaaactgagttgccggtcatattgaggacaaaatcttaaatatgtgctattagcattgtttttagactagtaatatgcagaaaacagttttaggcctgcgttacatattgcctcttccagctccaaagttttggaccctgtcagttttgcaactacattatacattattataatattcttttttttttctagaaactgggggcagcctcaaaatcatgttaaagagggagttttgttagaggcatctttaatgaacatgaatgtgagtgctctctaaattcttagcatctcactggatgtaaaatctatcagttaatagttttaaaaatgtctcttttgttaagaataaatttaggcttcaatcattataatcctgtaagtagcttgacataccaattgtttataagattcatcacataaatttctggagaaccaccaggtttagcttggaaataacctttaaagattgtttctgttgccaagaccaatgaccatgatgaagagttttatgatcacagcctatcttacttaaggtttgagaggaaacctgtcacctctgcaattgttactctagtttttaatgttataattccgctgcgtggttagtgaatgtctggcatgattatacacgtgtattggaaatatctagttttttaaatttttaattaatttatttataatttactgtgtgttcccagctaactctattttttttttcacttgctcataaacttctggaaaaaaataagcatgaatcaaatggtaatgcccaatatccaccgacactgcttttcttgaatgaacagccaaactaaactttggccatctatatattcatttacagattattcatacattcattttaataacattgagtactgatggatgttttgaaagtgagcattcatttaaggataaataaaaaataaagtagtaataaagaataaaatactttactaaaatattgtatggctattttcatgtttgaagctatagcttactatcatgagacagttttgattttgggactctttcaagtgtatctgagcatgactgtattttaaaatacttaaaagtgcttgatataaatagcttttccttctgaaccacgttctatgtaaaagaaaaaaaatagctttgattttctcactggtgtttcattaacttggttttaaatgttgacaatatttacaagtggaaataaaatttgtaaatatatgaaagatgcctttccttgtatataccatcaagcaagcactttgttttcaaagcaagtggtattttgatcagttttatttaaatgtgtgatcagaaagaatggcgtacaaatcttattatttctaaaaataagaataaaaaggtaaaactacatttagacttctttctcaagaaatcaaatacagctttttttcaaagctgattcagttcatttcctgttcctctattccaagtataagtttcaccaccttgagaaataatttttttaaaaaatcttcctctttctctggggagttatataataatttattgaatttattggaacttgattttcctggatgctttcaatgtttttaatgctaacatagaccccaaaattagatataaagaattgggaaggatacctggagcacaaggaataagatcatttgtaaaaatgtttgtttatatagacctatcctctaaatatgtgacaaggatctagaaattctgagaggggaaaatgtgattttggatttacaatgacagggtaatattttatttatcttcgaattccatggacaaaattaggctcacttaaattaatttttgtaaacccaagtaagttctaaaaaaaagtaaaaaatacatagaatacttgagaatttagcagggacagggaaaaatttcccagtaagtctgaagtcttgatgtaagtgggaattagataactaattggaggcattttattttaagttaaagacagatttctttaataagtttttaaaattgatcaactttaaattaagcacagtaaatgtgtataaatatgaaggcaatcataaggattttttcacttgtgtttccatattctggcattagtatatcatcataaaatagacaatgtttttgtctcaagaacaagaataaaattgaaatctgcattcatgccaattcagcataaaaaagaataggctacagttctctcacaccaagggccccatagttataaatgtgaaattatattccaggtcaaaatttgtgaaaaatacacaaaacactttgattttacaagagaggagctttaaataagatgattttagtagattgaaataaataaccagtatttaagtaaatgtataacgaatgaataaatacatgcataatattttcaaagttctataccagtacctatttttactcttacaaaatttcctgtaaaaaaatactacatttgaaattatttcattggttttagaactggcattgaaggtacccagtagactcttaagcctttactgcttgtct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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:2565 -> Molecular function: GO:0004890 [GABA-A receptor activity] evidence: IEA GeneID:2565 -> Molecular function: GO:0005230 [extracellular ligand-gated ion channel activity] evidence: IEA GeneID:2565 -> Molecular function: GO:0005254 [chloride channel activity] evidence: IEA GeneID:2565 -> Molecular function: GO:0050811 [GABA receptor binding] evidence: IEA GeneID:2565 -> Biological process: GO:0007214 [gamma-aminobutyric acid signaling pathway] evidence: IEA GeneID:2565 -> Biological process: GO:0007268 [synaptic transmission] evidence: IEA GeneID:2565 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA GeneID:2565 -> Cellular component: GO:0030054 [cell junction] evidence: IEA GeneID:2565 -> Cellular component: GO:0034707 [chloride channel complex] evidence: IEA GeneID:2565 -> Cellular component: GO:0043235 [receptor complex] evidence: IEA GeneID:2565 -> Cellular component: GO:0045211 [postsynaptic membrane] evidence: IEA
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