GABRA4

Gamma-aminobutyric acid receptor subunit alpha-4 is a protein that in humans is encoded by the GABRA4 gene.[5][6]

GABRA4
Identifiers
Aliases	GABRA4, gamma-aminobutyric acid type A receptor alpha4 subunit, gamma-aminobutyric acid type A receptor subunit alpha4
External IDs	OMIM: 137141 MGI: 95616 HomoloGene: 631 GeneCards: GABRA4
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p12 Start 46,918,900 bp[1] End 46,993,581 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 C3.1-C3.2 Start 71,569,749 bp[2] End 71,658,308 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • ion channel activity • benzodiazepine receptor activity • chloride channel activity • extracellular ligand-gated ion channel activity • GABA-A receptor 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 • synapse • integral component of plasma membrane • chloride channel complex • cell junction • cell membrane • GABA-ergic synapse • integral component of postsynaptic specialization membrane • dendrite membrane • neuron projection • postsynapse Biological process • gamma-aminobutyric acid signaling pathway • chloride transmembrane transport • ion transport • regulation of response to drug • central nervous system development • chloride transport • ion transmembrane transport • signal transduction • chemical synaptic transmission • regulation of membrane potential • nervous system process • synaptic transmission, GABAergic • postsynaptic potential Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2557	14397
Ensembl	ENSG00000109158	ENSMUSG00000029211
UniProt	P48169	Q9D6F4
RefSeq (mRNA)	NM_000809 NM_001204266 NM_001204267	NM_010251
RefSeq (protein)	NP_000800 NP_001191195 NP_001191196	NP_034381 NP_001345970 NP_001345972 NP_001345973 NP_001345974 NP_001345975 NP_001345976 NP_001345977 NP_001345979
Location (UCSC)	Chr 4: 46.92 – 46.99 Mb	Chr 5: 71.57 – 71.66 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

See also

• GABA_A receptor

References

1. GRCh38: Ensembl release 89: ENSG00000109158 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029211 - 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. McLean PJ, Farb DH, Russek SJ (Aug 1995). "Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster". Genomics. 26 (3): 580–586. doi:10.1016/0888-7543(95)80178-O. PMID 7607683.
6. "Entrez Gene: GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4".

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. PMID 8175718.
• Yang W, Drewe JA, Lan NC (1996). "Cloning and characterization of the human GABAA receptor alpha 4 subunit: identification of a unique diazepam-insensitive binding site". Eur. J. Pharmacol. 291 (3): 319–325. doi:10.1016/0922-4106(95)90072-1. PMID 8719416.
• Kumar R, Lumsden A, Ciclitira PJ, et al. (2000). "Human genome search in celiac disease using gliadin cDNA as probe". J. Mol. Biol. 300 (5): 1155–1167. doi:10.1006/jmbi.2000.3927. PMID 10903861.
• Kumar S, Sieghart W, Morrow AL (2002). "Association of protein kinase C with GABA(A) receptors containing alpha1 and alpha4 subunits in the cerebral cortex: selective effects of chronic ethanol consumption". J. Neurochem. 82 (1): 110–117. doi:10.1046/j.1471-4159.2002.00943.x. PMID 12091471.
• Mu W, Cheng Q, Yang J, Burt DR (2002). "Alternative splicing of the GABA(A) receptor alpha 4 subunit creates a severely truncated mRNA". Brain Res. Bull. 58 (5): 447–454. doi:10.1016/S0361-9230(02)00816-X. PMID 12242096.
• 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. 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.
• Ma DQ, Whitehead PL, Menold MM, et al. (2006). "Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism". Am. J. Hum. Genet. 77 (3): 377–388. doi:10.1086/433195. PMC 1226204. PMID 16080114.
• Collins AL, Ma D, Whitehead PL, et al. (2007). "Investigation of autism and GABA receptor subunit genes in multiple ethnic groups". Neurogenetics. 7 (3): 167–174. doi:10.1007/s10048-006-0045-1. PMC 1513515. PMID 16770606.
• Lagrange AH, Botzolakis EJ, Macdonald RL (2007). "Enhanced macroscopic desensitization shapes the response of alpha4 subtype-containing GABAA receptors to synaptic and extrasynaptic GABA". J. Physiol. 578 (Pt 3): 655–676. doi:10.1113/jphysiol.2006.122135. PMC 2151343. PMID 17124266.

External links

• GABRA4+protein,+human at the US 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.