GABRA5

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Gamma-aminobutyric acid (GABA) A receptor, alpha 5

Identifiers

GABRA5; MGC138184

External IDs

OMIM: 137142 MGI: 95617 HomoloGene: 20219

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

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_000810 (mRNA)
NP_000801 (protein)

NM_176942 (mRNA)
NP_795916 (protein)

Location

n/a

Chr 7: 57.28 - 57.38 Mb

Pubmed search

[1]

[2]

Gamma-aminobutyric acid (GABA) A receptor, alpha 5, also known as GABRA5, 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. Transcript variants utilizing three different alternative non-coding first exons have been described.^[1]

1 See also
2 References
3 Further reading
4 External links

[edit] See also

GABAA receptor

[edit] References

^ ^a ^b Entrez Gene: GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5.

[edit] Further reading

Delong R (2007). "GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism.". Autism : the international journal of research and practice 11 (2): 135–47. doi:10.1177/1362361307075705. PMID 17353214.
Otani K, Ujike H, Tanaka Y, et al. (2005). "The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder.". Neurosci. Lett. 381 (1-2): 108–13. doi:10.1016/j.neulet.2005.02.010. PMID 15882799.
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.
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.
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.
Ritchie RJ, Mattei MG, Lalande M (1998). "A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications.". Hum. Mol. Genet. 7 (8): 1253–60. PMID 9668167.
Kim Y, Glatt H, Xie W, et al. (1997). "Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region.". Genomics 42 (3): 378–87. doi:10.1006/geno.1997.4770. PMID 9205108.
Glatt K, Glatt H, Lalande M (1997). "Structure and organization of GABRB3 and GABRA5.". Genomics 41 (1): 63–9. doi:10.1006/geno.1997.4639. PMID 9126483.
Knoll JH, Sinnett D, Wagstaff J, et al. (1993). "FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions.". Hum. Mol. Genet. 2 (2): 183–9. PMID 8388764.
Russek SJ, Farb DH (1995). "Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform.". Genomics 23 (3): 528–33. doi:10.1006/geno.1994.1539. PMID 7851879.
Glatt KA, Sinnett D, Lalande M (1993). "Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13.". Hum. Mol. Genet. 1 (5): 348. PMID 1338907.
Wingrove P, Hadingham K, Wafford K, et al. (1992). "Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit.". Biochem. Soc. Trans. 20 (1): 18S. PMID 1321750.

[edit] External links

MeSH GABRA5+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)