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) [1] Band 5q34 Start 161,547,063 bp [1] End 161,702,593 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 A5|11 25.03 cM Start 42,306,437 bp [2] End 42,321,072 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar vermis cerebellar hemisphere right hemisphere of cerebellum paraflocculus of cerebellum Pons testicle prefrontal cortex right frontal lobe Brodmann area 9 cingulate gyrus Top expressed in lobe of cerebellum cerebellar vermis deep cerebellar nuclei Epithelium of choroid plexus vestibular membrane of cochlear duct choroid plexus of fourth ventricle inferior colliculi muscle of thigh Medulla Oblongata cochlea More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GABA-A receptor activity ion channel activity benzodiazepine receptor activity chloride channel activity extracellular ligand-gated ion channel activity transmembrane signaling receptor activity inhibitory extracellular ligand-gated ion channel 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 GABA-A receptor complex postsynaptic membrane membrane plasma membrane synapse integral component of plasma membrane chloride channel complex cell junction dendrite membrane neuron projection postsynapse cerebellar Golgi cell to granule cell synapse Biological process gamma-aminobutyric acid signaling pathway chloride transmembrane transport ion transport chloride transport signal transduction ion transmembrane transport chemical synaptic transmission regulation of membrane potential nervous system process synaptic transmission, GABAergic regulation of postsynaptic membrane potential Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2559 14399 Ensembl ENSG00000145863 ENSMUSG00000020428 UniProt Q16445 P16305 RefSeq (mRNA) NM_000811 NM_001099641 NM_008068 NM_001359049 RefSeq (protein) NP_000802 NP_001093111 NP_032094 NP_001345978 Location (UCSC) Chr 5: 161.55 – 161.7 Mb Chr 11: 42.31 – 42.32 Mb PubMed search [3] [4]
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]

See also

• GABA_A receptor

References

1. GRCh38: Ensembl release 89: ENSG00000145863 – Ensembl, May 2017
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.
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.
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.

Further reading

• 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.