GABRE

Gamma-aminobutyric acid (GABA) A receptor, epsilon
Identifiers
Symbol	GABRE
External IDs	OMIM: 300093 MGI: 1330235 HomoloGene: 68425 IUPHAR: 417 ChEMBL: 4635 GeneCards: GABRE Gene
Gene ontology Molecular function • GABA-A receptor activity • inhibitory extracellular ligand-gated ion channel activity • chloride channel activity • benzodiazepine receptor activity Cellular component • integral component of plasma membrane • cell junction • chloride channel complex • neuron projection • synapse • postsynaptic membrane • GABA-A receptor complex Biological process • transport • gamma-aminobutyric acid signaling pathway • synaptic transmission • regulation of membrane potential • response to drug • neurological system process • chloride transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2564	14404
Ensembl	ENSG00000102287	ENSMUSG00000031340
UniProt	P78334	A2AMW3
RefSeq (mRNA)	NM_004961	NM_017369
RefSeq (protein)	NP_004952	NP_059065
Location (UCSC)	Chr X: 151.95 – 151.97 Mb	Chr X: 72.26 – 72.27 Mb
PubMed search

Gamma-aminobutyric acid receptor subunit epsilon is a protein that in humans is encoded by the GABRE gene.^[1][2][3]

The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants encoding different isoforms have been identified.^[3]

Brainstem expression of ε subunit-containing GABA_A receptors is upregulated during pregnancy, particularly in the ventral respiratory group.^[4]

See also

• GABAA receptor

References

1. Davies PA, Hanna MC, Hales TG, Kirkness EF (Mar 1997). "Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit". Nature 385 (6619): 820–3. doi:10.1038/385820a0. PMID 9039914.
2. Garret M, Bascles L, Boue-Grabot E, Sartor P, Charron G, Bloch B, Margolskee RF (Apr 1997). "An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system". J Neurochem 68 (4): 1382–9. doi:10.1046/j.1471-4159.1997.68041382.x. PMID 9084408.
3. "Entrez Gene: GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon".
4. Hengen KB et al. (2012). PMID 22303446

Further reading

• Jones BL, Henderson LP (2007). "Trafficking and potential assembly patterns of epsilon-containing GABAA receptors". J. Neurochem. 103 (3): 1258–71. doi:10.1111/j.1471-4159.2007.04833.x. PMID 17714454.
• Rosen A, Bali M, Horenstein J, Akabas MH (2007). "Channel opening by anesthetics and GABA induces similar changes in the GABAA receptor M2 segment". Biophys. J. 92 (9): 3130–9. doi:10.1529/biophysj.106.094490. PMC 1852347. PMID 17293408.
• Wilkins ME, Hosie AM, Smart TG (2005). "Proton modulation of recombinant GABA(A) receptors: influence of GABA concentration and the beta subunit TM2-TM3 domain". J. Physiol. (Lond.) 567 (Pt 2): 365–77. doi:10.1113/jphysiol.2005.088823. PMC 1474194. PMID 15946973.
• Porter BE, Zhang G, Celix J; et al. (2005). "Heterogeneous GABAA receptor subunit expression in pediatric epilepsy patients". Neurobiol. Dis. 18 (3): 484–91. doi:10.1016/j.nbd.2004.12.010. PMID 15755675.
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• 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. PMC 139241. PMID 12477932.
• Davies PA, McCartney MR, Wang W; et al. (2002). "Alternative transcripts of the GABA(A) receptor epsilon subunit in human and rat". Neuropharmacology 43 (4): 467–75. doi:10.1016/S0028-3908(02)00153-3. PMID 12367593.
• Sinkkonen ST, Hanna MC, Kirkness EF, Korpi ER (2000). "GABA(A) receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus". J. Neurosci. 20 (10): 3588–95. PMID 10804200.
• Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome". Gene 227 (2): 213–22. doi:10.1016/S0378-1119(98)00594-0. PMID 10023064.
• Wilke K, Gaul R, Klauck SM, Poustka A (1997). "A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABAA neurotransmitter receptor". Genomics 45 (1): 1–10. doi:10.1006/geno.1997.4885. PMID 9339354.
• Whiting PJ, McAllister G, Vassilatis D; et al. (1997). "Neuronally restricted RNA splicing regulates the expression of a novel GABAA receptor subunit conferring atypical functional properties [corrected; erratum to be published]". J. Neurosci. 17 (13): 5027–37. PMID 9185540.

External links

• GABRE 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.