GABRG1

GABRG1
Identifiers
Aliases	GABRG1 , gamma-aminobutyric acid type A receptor gamma1 subunit, gamma-aminobutyric acid type A receptor subunit gamma1
External IDs	OMIM: 137166 MGI: 103156 HomoloGene: 22570 GeneCards: GABRG1
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4p12 Start 46,035,769 bp [1] End 46,124,054 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5 C3.1|5 37.43 cM Start 70,908,390 bp [2] End 70,999,960 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in internal globus pallidus endothelial cell external globus pallidus Brodmann area 23 entorhinal cortex caudate nucleus nucleus accumbens amygdala Brodmann area 46 hypothalamus Top expressed in paraventricular nucleus of hypothalamus ventromedial nucleus dorsomedial hypothalamic nucleus arcuate nucleus suprachiasmatic nucleus median eminence lateral hypothalamus globus pallidus mammillary body supraoptic nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function chloride 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 potential Cellular component integral 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 complex Biological process gamma-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 potential Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2565 14405 Ensembl ENSG00000163285 ENSMUSG00000001260 UniProt Q8N1C3 Q9R0Y8 RefSeq (mRNA) NM_173536 NM_010252 RefSeq (protein) NP_775807 NP_034382 Location (UCSC) Chr 4: 46.04 – 46.12 Mb Chr 5: 70.91 – 71 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Variants of this gene may be associated with alcohol dependence. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000163285 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000001260 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. 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

• 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. 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.
• 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 . 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

• GABRG1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)