GABRA6: Difference between revisions

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{{Infobox_gene}}
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'''Gamma-aminobutyric acid receptor subunit alpha-6''' is a [[protein]] that in humans is encoded by the ''GABRA6'' [[gene]].<ref name="pmid8020978">{{cite journal |vauthors=Hicks AA, Bailey ME, Riley BP, Kamphuis W, Siciliano MJ, Johnson KJ, Darlison MG | title = 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 | journal = Genomics | volume = 20 | issue = 2 | pages = 285–8 |date=Aug 1994 | pmid = 8020978 | pmc =  | doi = 10.1006/geno.1994.1167 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2559| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Gamma-aminobutyric acid (GABA) A receptor, alpha 6
| HGNCid = 4080
| Symbol = GABRA6
| AltSymbols =; MGC116903; MGC116904
| OMIM = 137143
| ECnumber = 
| Homologene = 20220
| MGIid = 95618
| GeneAtlas_image1 = PBB_GE_GABRA6_207182_at_tn.png
| Function = {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0004890 |text = GABA-A receptor activity}} {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{GNF_GO|id=GO:0005230 |text = extracellular ligand-gated ion channel activity}} {{GNF_GO|id=GO:0005254 |text = chloride channel activity}} {{GNF_GO|id=GO:0008503 |text = benzodiazepine receptor activity}} {{GNF_GO|id=GO:0031404 |text = chloride ion binding}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0045211 |text = postsynaptic membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006821 |text = chloride transport}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007214 |text = gamma-aminobutyric acid signaling pathway}}
  | Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2559
    | Hs_Ensembl = ENSG00000145863
    | Hs_RefseqProtein = NP_000802
    | Hs_RefseqmRNA = NM_000811
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 5
    | Hs_GenLoc_start = 161045548
    | Hs_GenLoc_end = 161061689
    | Hs_Uniprot = Q16445
    | Mm_EntrezGene = 14399
    | Mm_Ensembl = ENSMUSG00000020428
    | Mm_RefseqmRNA = NM_008068
    | Mm_RefseqProtein = NP_032094
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 42149861
    | Mm_GenLoc_end = 42164431
    | Mm_Uniprot = O54736
  }}
}}
'''Gamma-aminobutyric acid (GABA) A receptor, alpha 6''', also known as '''GABRA6''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2559| accessdate = }}</ref>


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{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2559| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2559| accessdate = }}</ref>
}}
}}
One study has found a genetic variant in the gene to be associated with the [[personality trait]] [[neuroticism]].<ref>{{Cite journal
| author = Srijan Sen
| author-link = Srijan Sen
| author2 = Sandra Villafuerte
| author2-link = Sandra Villafuerte
| author3 = Randolph Nesse
| author3-link = Randolph Nesse
| author4 = Scott F. Stoltenberg
| author4-link = Scott F. Stoltenberg
| author5 = Jeffrey Hopcian
| author5-link = Jeffrey Hopcian
| author6 = Lillian Gleiberman
| author6-link = Lillian Gleiberman
| author7 = Alan Weder
| author7-link = Alan Weder
| author8 = Margit Burmeister
| author8-link = Margit Burmeister
| last-author-amp = yes
| title = Serotonin transporter and GABAA alpha 6 receptor variants are associated with neuroticism
| journal = [[Biological Psychiatry]]
| volume = 55
| issue = 3
| pages = 244–249
|date=February 2004
| pmid = 14744464
| doi = 10.1016/j.biopsych.2003.08.006
}}</ref>


==See also==
==See also==
* [[GABAA receptor]]
* [[GABAA receptor|GABA<sub>A</sub> receptor]]


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
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| citations =  
| citations =  
*{{cite journal  | author=Hicks AA, Bailey ME, Riley BP, ''et al.'' |title=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. |journal=Genomics |volume=20 |issue= 2 |pages= 285-8 |year= 1994 |pmid= 8020978 |doi= 10.1006/geno.1994.1167 }}
*{{cite journal  |vauthors=Tögel M, Mossier B, Fuchs K, Sieghart W |title=gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties. |journal=J. Biol. Chem. |volume=269 |issue= 17 |pages= 12993–8 |year= 1994 |pmid= 8175718 |doi=  }}
*{{cite journal  | author=Tögel M, Mossier B, Fuchs K, Sieghart W |title=gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties. |journal=J. Biol. Chem. |volume=269 |issue= 17 |pages= 12993-8 |year= 1994 |pmid= 8175718 |doi=  }}
*{{cite journal  |vauthors=Hadingham KL, Garrett EM, Wafford KA |title=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. |journal=Mol. Pharmacol. |volume=49 |issue= 2 |pages= 253–9 |year= 1996 |pmid= 8632757 |doi=  |display-authors=etal}}
*{{cite journal  | author=Hadingham KL, Garrett EM, Wafford KA, ''et al.'' |title=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. |journal=Mol. Pharmacol. |volume=49 |issue= 2 |pages= 253-9 |year= 1996 |pmid= 8632757 |doi=  }}
*{{cite journal  | author=Russek SJ |title=Evolution of GABA(A) receptor diversity in the human genome. |journal=Gene |volume=227 |issue= 2 |pages= 213–22 |year= 1999 |pmid= 10023064 |doi=10.1016/S0378-1119(98)00594-0 }}
*{{cite journal  | author=Russek SJ |title=Evolution of GABA(A) receptor diversity in the human genome. |journal=Gene |volume=227 |issue= 2 |pages= 213-22 |year= 1999 |pmid= 10023064 |doi=  }}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  |vauthors=Sen S, Villafuerte S, Nesse R |title=Serotonin transporter and GABAA alpha 6 receptor variants are associated with neuroticism. |journal=Biol. Psychiatry |volume=55 |issue= 3 |pages= 244–9 |year= 2004 |pmid= 14744464 |doi=10.1016/j.biopsych.2003.08.006 |display-authors=etal}}
*{{cite journal  | author=Sen S, Villafuerte S, Nesse R, ''et al.'' |title=Serotonin transporter and GABAA alpha 6 receptor variants are associated with neuroticism. |journal=Biol. Psychiatry |volume=55 |issue= 3 |pages= 244-9 |year= 2004 |pmid= 14744464 |doi=  }}
*{{cite journal  |vauthors=Peran M, Hooper H, Rayner SL |title=GABAA receptor alpha1 and alpha6 subunits mediate cell surface anchoring in cultured cells. |journal=Neurosci. Lett. |volume=364 |issue= 2 |pages= 67–70 |year= 2004 |pmid= 15196679 |doi= 10.1016/j.neulet.2004.03.081 |display-authors=etal}}
*{{cite journal  | author=Peran M, Hooper H, Rayner SL, ''et al.'' |title=GABAA receptor alpha1 and alpha6 subunits mediate cell surface anchoring in cultured cells. |journal=Neurosci. Lett. |volume=364 |issue= 2 |pages= 67-70 |year= 2004 |pmid= 15196679 |doi= 10.1016/j.neulet.2004.03.081 }}
*{{cite journal  |vauthors=Uhart M, McCaul ME, Oswald LM |title=GABRA6 gene polymorphism and an attenuated stress response. |journal=Mol. Psychiatry |volume=9 |issue= 11 |pages= 998–1006 |year= 2005 |pmid= 15197399 |doi= 10.1038/sj.mp.4001535 |display-authors=etal}}
*{{cite journal  | author=Uhart M, McCaul ME, Oswald LM, ''et al.'' |title=GABRA6 gene polymorphism and an attenuated stress response. |journal=Mol. Psychiatry |volume=9 |issue= 11 |pages= 998-1006 |year= 2005 |pmid= 15197399 |doi= 10.1038/sj.mp.4001535 }}
*{{cite journal  |vauthors=Wang W, Stock RE, Gronostajski RM |title=A role for nuclear factor I in the intrinsic control of cerebellar granule neuron gene expression. |journal=J. Biol. Chem. |volume=279 |issue= 51 |pages= 53491–7 |year= 2005 |pmid= 15466411 |doi= 10.1074/jbc.M410370200 |display-authors=etal}}
*{{cite journal  | author=Wang W, Stock RE, Gronostajski RM, ''et al.'' |title=A role for nuclear factor I in the intrinsic control of cerebellar granule neuron gene expression. |journal=J. Biol. Chem. |volume=279 |issue= 51 |pages= 53491-7 |year= 2005 |pmid= 15466411 |doi= 10.1074/jbc.M410370200 }}
*{{cite journal  |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  |vauthors=Kimura K, Wakamatsu A, Suzuki Y |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 |display-authors=etal}}
*{{cite journal  | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal  |vauthors=Lucht M, Barnow S, Schroeder W |title=Negative perceived paternal parenting is associated with dopamine D2 receptor exon 8 and GABA(A) alpha 6 receptor variants: an explorative study. |journal=Am. J. Med. Genet. B Neuropsychiatr. Genet. |volume=141 |issue= 2 |pages= 167–72 |year= 2006 |pmid= 16402352 |doi= 10.1002/ajmg.b.30255 |display-authors=etal}}
*{{cite journal  | author=Lucht M, Barnow S, Schroeder W, ''et al.'' |title=Negative perceived paternal parenting is associated with dopamine D2 receptor exon 8 and GABA(A) alpha 6 receptor variants: an explorative study. |journal=Am. J. Med. Genet. B Neuropsychiatr. Genet. |volume=141 |issue= 2 |pages= 167-72 |year= 2006 |pmid= 16402352 |doi= 10.1002/ajmg.b.30255 }}
*{{cite journal  |vauthors=Park CS, Park SY, Lee CS |title=Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population. |journal=J. Korean Med. Sci. |volume=21 |issue= 3 |pages= 533–8 |year= 2007 |pmid= 16778401 |doi=10.3346/jkms.2006.21.3.533  | pmc=2729963 |display-authors=etal}}
*{{cite journal  | author=Park CS, Park SY, Lee CS, ''et al.'' |title=Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population. |journal=J. Korean Med. Sci. |volume=21 |issue= 3 |pages= 533-8 |year= 2007 |pmid= 16778401 |doi=  }}
*{{cite journal  |vauthors=Kobayashi Y, Akiyoshi J, Kanehisa M |title=Lack of polymorphism in genes encoding mGluR 7, mGluR 8, GABA(A) receptor alfa-6 subunit and nociceptin/orphanin FQ receptor and panic disorder. |journal=Psychiatr. Genet. |volume=17 |issue= 1 |pages= 9 |year= 2007 |pmid= 17167337 |doi= 10.1097/YPG.0b013e32801118bc |display-authors=etal}}
*{{cite journal  | author=Kobayashi Y, Akiyoshi J, Kanehisa M, ''et al.'' |title=Lack of polymorphism in genes encoding mGluR 7, mGluR 8, GABA(A) receptor alfa-6 subunit and nociceptin/orphanin FQ receptor and panic disorder. |journal=Psychiatr. Genet. |volume=17 |issue= 1 |pages= 9 |year= 2007 |pmid= 17167337 |doi= 10.1097/YPG.0b013e32801118bc }}
*{{cite journal  |vauthors=Lee YC, Wang HP, Chiu HM |title=GABRA6 genetic polymorphism is associated with the risk of functional heartburn in Chinese. |journal=J. Gastroenterol. Hepatol. |volume=22 |issue= 2 |pages= 227–33 |year= 2007 |pmid= 17295876 |doi= 10.1111/j.1440-1746.2006.04441.x |display-authors=etal}}
*{{cite journal  | author=Lee YC, Wang HP, Chiu HM, ''et al.'' |title=GABRA6 genetic polymorphism is associated with the risk of functional heartburn in Chinese. |journal=J. Gastroenterol. Hepatol. |volume=22 |issue= 2 |pages= 227-33 |year= 2007 |pmid= 17295876 |doi= 10.1111/j.1440-1746.2006.04441.x }}
}}
}}
{{refend}}
{{refend}}
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* {{MeshName|GABRA6+protein,+human}}
* {{MeshName|GABRA6+protein,+human}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Ligand-gated ion channels}}
{{Ligand-gated ion channels}}
{{GABAergics}}
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[[Category:Ion channels]]
[[Category:Ion channels]]
{{WikiDoc Sources}}
 
 
{{membrane-protein-stub}}

Latest revision as of 08:36, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

n/a

RefSeq (mRNA)

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RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Gamma-aminobutyric acid receptor subunit alpha-6 is a protein that in humans is encoded by the GABRA6 gene.[1][2]

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.[2]

One study has found a genetic variant in the gene to be associated with the personality trait neuroticism.[3]

See also

References

  1. ↑ 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): 285–8. doi:10.1006/geno.1994.1167. PMID 8020978.
  2. ↑ 2.0 2.1 "Entrez Gene: GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6".
  3. ↑ 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.

Further reading

External links

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


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