GABRA6

GABRA6
Identifiers
Aliases	GABRA6, gamma-aminobutyric acid type A receptor alpha6 subunit, gamma-aminobutyric acid type A receptor subunit alpha6
External IDs	OMIM: 137143; MGI: 95618; HomoloGene: 20220; GeneCards: GABRA6; OMA:GABRA6 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	161,702,593 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	42,321,072 bp
RNA expression pattern
	Top expressed in
	Top expressed in
	More reference expression data
	More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
	Sources:Amigo / QuickGO
Orthologs
	2559
	14399
	ENSG00000145863
	ENSMUSG00000020428
	Q16445
	P16305
	NM_000811
	NM_001099641; NM_008068; NM_001359049
	NP_000802
	NP_001093111; NP_032094; NP_001345978
	Wikidata
View/Edit Human	View/Edit Mouse

Gamma-aminobutyric acid receptor subunit alpha-6 is a protein that in humans is encoded by the GABRA6 gene.^[5]^[6]

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.^[6]

One study found a genetic variant in the gene to be associated with the personality trait neuroticism.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000145863 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020428 – 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.
^ Hicks AA, Bailey ME, Riley BP, Kamphuis W, Siciliano MJ, Johnson KJ, Darlison MG (Aug 1994). "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". Genomics. 20 (2): 285–288. doi:10.1006/geno.1994.1167. PMID 8020978.
^ ^a ^b "Entrez Gene: GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6".
^ Srijan Sen; Sandra Villafuerte; Randolph Nesse; Scott F. Stoltenberg; Jeffrey Hopcian; Lillian Gleiberman; Alan Weder & Margit Burmeister (February 2004). "Serotonin transporter and GABAA alpha 6 receptor variants are associated with neuroticism". Biological Psychiatry. 55 (3): 244–249. doi:10.1016/j.biopsych.2003.08.006. PMID 14744464. S2CID 7244510.

Tögel M, Mossier B, Fuchs K, Sieghart W (1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties". J. Biol. Chem. 269 (17): 12993–12998. doi:10.1016/S0021-9258(18)99974-6. PMID 8175718.
Hadingham KL, Garrett EM, Wafford KA, et al. (1996). "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". Mol. Pharmacol. 49 (2): 253–259. doi:10.1016/S0026-895X(25)08706-1. PMID 8632757.
Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome". Gene. 227 (2): 213–222. doi:10.1016/S0378-1119(98)00594-0. PMID 10023064.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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.
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.
Sen S, Villafuerte S, Nesse R, et al. (2004). "Serotonin transporter and GABAA alpha 6 receptor variants are associated with neuroticism". Biol. Psychiatry. 55 (3): 244–249. doi:10.1016/j.biopsych.2003.08.006. PMID 14744464. S2CID 7244510.
Peran M, Hooper H, Rayner SL, et al. (2004). "GABAA receptor alpha1 and alpha6 subunits mediate cell surface anchoring in cultured cells". Neurosci. Lett. 364 (2): 67–70. doi:10.1016/j.neulet.2004.03.081. PMID 15196679. S2CID 54314537.
Uhart M, McCaul ME, Oswald LM, et al. (2005). "GABRA6 gene polymorphism and an attenuated stress response". Mol. Psychiatry. 9 (11): 998–1006. doi:10.1038/sj.mp.4001535. PMID 15197399.
Wang W, Stock RE, Gronostajski RM, et al. (2005). "A role for nuclear factor I in the intrinsic control of cerebellar granule neuron gene expression". J. Biol. Chem. 279 (51): 53491–53497. doi:10.1074/jbc.M410370200. PMID 15466411.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Lucht M, Barnow S, Schroeder W, et al. (2006). "Negative perceived paternal parenting is associated with dopamine D2 receptor exon 8 and GABA(A) alpha 6 receptor variants: an explorative study". Am. J. Med. Genet. B Neuropsychiatr. Genet. 141 (2): 167–172. doi:10.1002/ajmg.b.30255. PMID 16402352. S2CID 9675791.
Park CS, Park SY, Lee CS, et al. (2007). "Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population". J. Korean Med. Sci. 21 (3): 533–538. doi:10.3346/jkms.2006.21.3.533. PMC 2729963. PMID 16778401.
Kobayashi Y, Akiyoshi J, Kanehisa M, et al. (2007). "Lack of polymorphism in genes encoding mGluR 7, mGluR 8, GABA(A) receptor alfa-6 subunit and nociceptin/orphanin FQ receptor and panic disorder". Psychiatr. Genet. 17 (1): 9. doi:10.1097/YPG.0b013e32801118bc. PMID 17167337.
Lee YC, Wang HP, Chiu HM, et al. (2007). "GABRA6 genetic polymorphism is associated with the risk of functional heartburn in Chinese". J. Gastroenterol. Hepatol. 22 (2): 227–233. doi:10.1111/j.1440-1746.2006.04441.x. PMID 17295876. S2CID 24860500.

External links

GABRA6+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000145863 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020428 – 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.

[pmid8020978-5] Hicks AA, Bailey ME, Riley BP, Kamphuis W, Siciliano MJ, Johnson KJ, Darlison MG (Aug 1994). "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". Genomics. 20 (2): 285–288. doi:10.1006/geno.1994.1167. PMID 8020978.

[entrez-6] "Entrez Gene: GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6".

[7] Srijan Sen; Sandra Villafuerte; Randolph Nesse; Scott F. Stoltenberg; Jeffrey Hopcian; Lillian Gleiberman; Alan Weder & Margit Burmeister (February 2004). "Serotonin transporter and GABAA alpha 6 receptor variants are associated with neuroticism". Biological Psychiatry. 55 (3): 244–249. doi:10.1016/j.biopsych.2003.08.006. PMID 14744464. S2CID 7244510.

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GABRA6

See also

References

Further reading

External links