GABRA3

From Wikipedia, the free encyclopedia

Gamma-aminobutyric acid (GABA) A receptor, alpha 3

Identifiers

GABRA3; MGC33793

External IDs

OMIM: 305660 MGI: 95615 HomoloGene: 20218

Gene ontology
Molecular Function:	• 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 • postsynaptic membrane
Biological Process:	• ion transport • chloride transport • gamma-aminobutyric acid signaling pathway

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000808 (mRNA)
NP_000799 (protein)

NM_008067 (mRNA)
NP_032093 (protein)

Location

Chr X: 151.09 - 151.37 Mb

Chr X: 68.69 - 68.91 Mb

Pubmed search

[1]

[2]

Gamma-aminobutyric acid (GABA) A receptor, alpha 3, also known as GABRA3, 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: GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3.

[edit] Further reading

Buckle VJ, Fujita N, Ryder-Cook AS, et al. (1990). "Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease.". Neuron 3 (5): 647-54. PMID 2561974.
Bell MV, Bloomfield J, McKinley M, et al. (1990). "Physical linkage of a GABAA receptor subunit gene to the DXS374 locus in human Xq28.". Am. J. Hum. Genet. 45 (6): 883-8. PMID 2574000.
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, Wingrove P, Le Bourdelles B, et al. (1993). "Cloning of cDNA sequences encoding human alpha 2 and alpha 3 gamma-aminobutyric acidA receptor subunits and characterization of the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-, alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA receptors.". Mol. Pharmacol. 43 (6): 970-5. PMID 8391122.
Belelli D, Lambert JJ, Peters JA, et al. (1997). "The interaction of the general anesthetic etomidate with the gamma-aminobutyric acid type A receptor is influenced by a single amino acid.". Proc. Natl. Acad. Sci. U.S.A. 94 (20): 11031-6. PMID 9380754.
Huang RQ, Dillon GH (1998). "Maintenance of recombinant type A gamma-aminobutyric acid receptor function: role of protein tyrosine phosphorylation and calcineurin.". J. Pharmacol. Exp. Ther. 286 (1): 243-55. PMID 9655866.
Amir R, Dahle EJ, Toriolo D, Zoghbi HY (2000). "Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq.". Am. J. Med. Genet. 90 (1): 69-71. PMID 10602120.
Bedford FK, Kittler JT, Muller E, et al. (2001). "GABA(A) receptor cell surface number and subunit stability are regulated by the ubiquitin-like protein Plic-1.". Nat. Neurosci. 4 (9): 908-16. doi:10.1038/nn0901-908. PMID 11528422.
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.
Chou KC (2004). "Modelling extracellular domains of GABA-A receptors: subtypes 1, 2, 3, and 5.". Biochem. Biophys. Res. Commun. 316 (3): 636-42. doi:10.1016/j.bbrc.2004.02.098. PMID 15033447.
Henkel V, Baghai TC, Eser D, et al. (2004). "The gamma amino butyric acid (GABA) receptor alpha-3 subunit gene polymorphism in unipolar depressive disorder: a genetic association study.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 126 (1): 82-7. doi:10.1002/ajmg.b.20137. PMID 15048654.
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.

[edit] External links

MeSH GABRA3+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)