Gamma-aminobutyric acid receptor subunit gamma-1 is a protein that in humans is encoded by the GABRG1gene.[5] The protein encoded by this gene is a subunit of the GABAA receptor.[6]
^ abcGRCh38: Ensembl release 89: ENSG00000163285 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000001260 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Wilcox AS, Warrington JA, Gardiner K, Berger R, Whiting P, Altherr MR, Wasmuth JJ, Patterson D, Sikela JM (July 1992). "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". Proc. Natl. Acad. Sci. U.S.A. 89 (13): 5857–5861. Bibcode:1992PNAS...89.5857W. doi:10.1073/pnas.89.13.5857. PMC49396. PMID 1321425.
^Hevers W, Lüddens H (August 1998). "The diversity of GABAA receptors. Pharmacological and electrophysiological properties of GABAA channel subtypes". Mol. Neurobiol. 18 (1): 35–86. doi:10.1007/BF02741459. PMID 9824848. S2CID 32359279.
^Ittiwut C, Listman J, Mutirangura A, Malison R, Covault J, Kranzler HR, Sughondhabirom A, Thavichachart N, Gelernter J (January 2008). "Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4". Genomics. 91 (1): 61–69. doi:10.1016/j.ygeno.2007.08.007. PMC2709929. PMID 17976953.
Further readingedit
Nymann-Andersen J, Wang H, Chen L, et al. (2002). "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors". J. Neurochem. 80 (5): 815–823. doi:10.1046/j.0022-3042.2002.00762.x. PMID 11948245. S2CID 38049055.
Iwakiri M, Mizukami K, Ikonomovic MD, et al. (2009). "An immunohistochemical study of GABA A receptor gamma subunits in Alzheimer's disease hippocampus: relationship to neurofibrillary tangle progression". Neuropathology. 29 (3): 263–269. doi:10.1111/j.1440-1789.2008.00978.x. PMC3078755. PMID 19019179.
Craddock N, Jones L, Jones IR, et al. (2010). "Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype". Mol. Psychiatry. 15 (2): 146–153. doi:10.1038/mp.2008.66. PMC3967096. PMID 19078961.
Ray LA, Hutchison KE (2009). "Associations among GABRG1, level of response to alcohol, and drinking behaviors". Alcohol. Clin. Exp. Res. 33 (8): 1382–1390. doi:10.1111/j.1530-0277.2009.00968.x. PMC2965732. PMID 19426171.
Ittiwut C, Listman J, Mutirangura A, et al. (2008). "Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4". Genomics. 91 (1): 61–69. doi:10.1016/j.ygeno.2007.08.007. PMC2709929. PMID 17976953.
Gratacòs M, Costas J, de Cid R, et al. (2009). "Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment". Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (6): 808–816. doi:10.1002/ajmg.b.30902. PMID 19086053. S2CID 44524739.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
Bonnert TP, McKernan RM, Farrar S, et al. (1999). "theta, a novel gamma-aminobutyric acid type A receptor subunit". Proc. Natl. Acad. Sci. U.S.A. 96 (17): 9891–9896. Bibcode:1999PNAS...96.9891B. doi:10.1073/pnas.96.17.9891. PMC22306. PMID 10449790.
Guilmatre A, Dubourg C, Mosca AL, et al. (2009). "Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation". Arch. Gen. Psychiatry. 66 (9): 947–956. doi:10.1001/archgenpsychiatry.2009.80. PMC2958844. PMID 19736351.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Ma DQ, Whitehead PL, Menold MM, et al. (2005). "Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism". Am. J. Hum. Genet. 77 (3): 377–388. doi:10.1086/433195. PMC1226204. PMID 16080114.
Covault J, Gelernter J, Jensen K, et al. (2008). "Markers in the 5'-region of GABRG1 associate to alcohol dependence and are in linkage disequilibrium with markers in the adjacent GABRA2 gene". Neuropsychopharmacology. 33 (4): 837–848. doi:10.1038/sj.npp.1301456. PMC2743531. PMID 17507911.
Enoch MA, Hodgkinson CA, Yuan Q, et al. (2009). "GABRG1 and GABRA2 as independent predictors for alcoholism in two populations". Neuropsychopharmacology. 34 (5): 1245–1254. doi:10.1038/npp.2008.171. PMC2656604. PMID 18818659.
Wilcox AS, Warrington JA, Gardiner K, et al. (1992). "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". Proc. Natl. Acad. Sci. U.S.A. 89 (13): 5857–5861. Bibcode:1992PNAS...89.5857W. doi:10.1073/pnas.89.13.5857. PMC49396. PMID 1321425.
gabrg1, gamma, aminobutyric, acid, receptor, subunit, gamma, protein, that, humans, encoded, gene, protein, encoded, this, gene, subunit, gabaa, receptor, identifiersaliases, gamma, aminobutyric, acid, type, receptor, gamma1, subunit, gamma, aminobutyric, acid. Gamma aminobutyric acid receptor subunit gamma 1 is a protein that in humans is encoded by the GABRG1 gene 5 The protein encoded by this gene is a subunit of the GABAA receptor 6 GABRG1IdentifiersAliasesGABRG1 gamma aminobutyric acid type A receptor gamma1 subunit gamma aminobutyric acid type A receptor subunit gamma1External IDsOMIM 137166 MGI 103156 HomoloGene 22570 GeneCards GABRG1Gene location Human Chr Chromosome 4 human 1 Band4p12Start46 035 769 bp 1 End46 124 054 bp 1 Gene location Mouse Chr Chromosome 5 mouse 2 Band5 C3 1 5 37 43 cMStart70 908 390 bp 2 End70 999 960 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed ininternal globus pallidusendothelial cellexternal globus pallidusBrodmann area 23entorhinal cortexcaudate nucleusnucleus accumbensamygdalaBrodmann area 46hypothalamusTop expressed inparaventricular nucleus of hypothalamusventromedial nucleusdorsomedial hypothalamic nucleusarcuate nucleussuprachiasmatic nucleusmedian eminencelateral hypothalamusglobus pallidusmammillary bodysupraoptic nucleusMore reference expression dataBioGPSn aGene ontologyMolecular functionchloride channel activity extracellular ligand gated ion channel activity GABA A receptor activity ion channel activity transmembrane signaling receptor activity GABA receptor binding inhibitory extracellular ligand gated ion channel activity benzodiazepine receptor activity GABA gated chloride ion channel activity transmitter gated ion channel activity involved in regulation of postsynaptic membrane potentialCellular componentintegral component of membrane cell junction postsynaptic membrane plasma membrane receptor complex synapse membrane chloride channel complex integral component of plasma membrane dendrite membrane neuron projection postsynapse GABA A receptor complexBiological processgamma aminobutyric acid signaling pathway ion transmembrane transport chloride transport chloride transmembrane transport ion transport chemical synaptic transmission signal transduction regulation of membrane potential nervous system process synaptic transmission GABAergic regulation of postsynaptic membrane potentialSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez256514405EnsemblENSG00000163285ENSMUSG00000001260UniProtQ8N1C3Q9R0Y8RefSeq mRNA NM 173536NM 010252RefSeq protein NP 775807NP 034382Location UCSC Chr 4 46 04 46 12 MbChr 5 70 91 71 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Variants of this gene may be associated with alcohol dependence 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000163285 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000001260 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Wilcox AS Warrington JA Gardiner K Berger R Whiting P Altherr MR Wasmuth JJ Patterson D Sikela JM July 1992 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 Proc Natl Acad Sci U S A 89 13 5857 5861 Bibcode 1992PNAS 89 5857W doi 10 1073 pnas 89 13 5857 PMC 49396 PMID 1321425 Hevers W Luddens H August 1998 The diversity of GABAA receptors Pharmacological and electrophysiological properties of GABAA channel subtypes Mol Neurobiol 18 1 35 86 doi 10 1007 BF02741459 PMID 9824848 S2CID 32359279 Ittiwut C Listman J Mutirangura A Malison R Covault J Kranzler HR Sughondhabirom A Thavichachart N Gelernter J January 2008 Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4 Genomics 91 1 61 69 doi 10 1016 j ygeno 2007 08 007 PMC 2709929 PMID 17976953 Further reading editNymann Andersen J Wang H Chen L et al 2002 Subunit specificity and interaction domain between GABA A receptor associated protein GABARAP and GABA A receptors J Neurochem 80 5 815 823 doi 10 1046 j 0022 3042 2002 00762 x PMID 11948245 S2CID 38049055 Iwakiri M Mizukami K Ikonomovic MD et al 2009 An immunohistochemical study of GABA A receptor gamma subunits in Alzheimer s disease hippocampus relationship to neurofibrillary tangle progression Neuropathology 29 3 263 269 doi 10 1111 j 1440 1789 2008 00978 x PMC 3078755 PMID 19019179 Craddock N Jones L Jones IR et al 2010 Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype Mol Psychiatry 15 2 146 153 doi 10 1038 mp 2008 66 PMC 3967096 PMID 19078961 Ray LA Hutchison KE 2009 Associations among GABRG1 level of response to alcohol and drinking behaviors Alcohol Clin Exp Res 33 8 1382 1390 doi 10 1111 j 1530 0277 2009 00968 x PMC 2965732 PMID 19426171 Ittiwut C Listman J Mutirangura A et al 2008 Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4 Genomics 91 1 61 69 doi 10 1016 j ygeno 2007 08 007 PMC 2709929 PMID 17976953 Gratacos M Costas J de Cid R et al 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment Am J Med Genet B Neuropsychiatr Genet 150B 6 808 816 doi 10 1002 ajmg b 30902 PMID 19086053 S2CID 44524739 Ota T Suzuki Y Nishikawa T et al 2004 Complete sequencing and characterization of 21 243 full length human cDNAs Nat Genet 36 1 40 45 doi 10 1038 ng1285 PMID 14702039 Bonnert TP McKernan RM Farrar S et al 1999 theta a novel gamma aminobutyric acid type A receptor subunit Proc Natl Acad Sci U S A 96 17 9891 9896 Bibcode 1999PNAS 96 9891B doi 10 1073 pnas 96 17 9891 PMC 22306 PMID 10449790 Guilmatre A Dubourg C Mosca AL et al 2009 Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia autism and mental retardation Arch Gen Psychiatry 66 9 947 956 doi 10 1001 archgenpsychiatry 2009 80 PMC 2958844 PMID 19736351 Strausberg RL Feingold EA Grouse LH et al 2002 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 16899 16903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Ma DQ Whitehead PL Menold MM et al 2005 Identification of significant association and gene gene interaction of GABA receptor subunit genes in autism Am J Hum Genet 77 3 377 388 doi 10 1086 433195 PMC 1226204 PMID 16080114 Covault J Gelernter J Jensen K et al 2008 Markers in the 5 region of GABRG1 associate to alcohol dependence and are in linkage disequilibrium with markers in the adjacent GABRA2 gene Neuropsychopharmacology 33 4 837 848 doi 10 1038 sj npp 1301456 PMC 2743531 PMID 17507911 Enoch MA Hodgkinson CA Yuan Q et al 2009 GABRG1 and GABRA2 as independent predictors for alcoholism in two populations Neuropsychopharmacology 34 5 1245 1254 doi 10 1038 npp 2008 171 PMC 2656604 PMID 18818659 Wilcox AS Warrington JA Gardiner K et al 1992 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 Proc Natl Acad Sci U S A 89 13 5857 5861 Bibcode 1992PNAS 89 5857W doi 10 1073 pnas 89 13 5857 PMC 49396 PMID 1321425 External links editGABRG1 protein human at the U S National Library of Medicine Medical Subject Headings MeSH nbsp This membrane protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title GABRG1 amp oldid 1188018717, wikipedia, wiki, book, books, library,
