GABRA6

From Wikipedia, the free encyclopedia

Gamma-aminobutyric acid (GABA) A receptor, alpha 6

Identifiers

GABRA6; MGC116903; MGC116904

External IDs

OMIM: 137143 MGI: 95618 HomoloGene: 20220

Gene ontology
Molecular Function:	• receptor activity • GABA-A receptor activity • ion channel activity • extracellular ligand-gated ion channel activity • chloride channel activity • benzodiazepine receptor activity • chloride ion binding
Cellular Component:	• integral to plasma membrane • integral to membrane • postsynaptic membrane
Biological Process:	• ion transport • chloride transport • signal transduction • gamma-aminobutyric acid signaling pathway

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000811 (mRNA)
NP_000802 (protein)

NM_008068 (mRNA)
NP_032094 (protein)

Location

Chr 5: 161.05 - 161.06 Mb

Chr 11: 42.15 - 42.16 Mb

Pubmed search

[1]

[2]

Gamma-aminobutyric acid (GABA) A receptor, alpha 6, also known as GABRA6, is a human gene.^[1]

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.^[1]

1 See also
2 References
3 Further reading
4 External links

[edit] See also

GABAA receptor

[edit] References

^ ^a ^b Entrez Gene: GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6.

[edit] Further reading

Hicks AA, Bailey ME, Riley BP, et al. (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): 285–8. doi:10.1006/geno.1994.1167. PMID 8020978.
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): 12993–8. 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): 253–9. PMID 8632757.
Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome.". Gene 227 (2): 213–22. 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): 16899–903. doi:10.1073/pnas.242603899. 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): 40–5. 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): 244–9. PMID 14744464.
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.
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): 53491–7. 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): 2121–7. doi:10.1101/gr.2596504. 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. 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): 167–72. doi:10.1002/ajmg.b.30255. PMID 16402352.
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): 533–8. 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): 227–33. doi:10.1111/j.1440-1746.2006.04441.x. PMID 17295876.

[edit] External links

MeSH GABRA6+protein,+human

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v • d • e Ion channel, receptor: ligand-gated ion channels

Cys-loop receptors	5-HT/serotonin: 5-HT₃ (A) GABA: GABA A (α₁, α₂, α₃, α₄, α₅, α₆, β₁, β₂, β₃, γ₂, γ₃, δ, ε, π), GABA C (ρ₁, ρ₂) Glycine: α₁, α₂, β Nicotinic acetylcholine: α1, α2, α3, α4, α5, α7, α9, β1, β2, β3, β4, δ, ε, combinations ((α4)₂(β2)₃, (α7)₅, Ganglion type, Muscle type)

Ionotropic glutamates	AMPA (1, 2, 3, 4) - Kainate (1, 2, 3, 5) - NMDA (1, 2A, 2B, 2C, 2D)

ATP-gated channels	Purinergic receptors: P2X (1, 2, 3, 4, 5, 6, 7)