Protein-coding gene in humans
Gamma-aminobutyric acid receptor subunit epsilon is aprotein that in humans is encoded by theGABRE gene .[ 3] [ 4] [ 5]
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.[ 5]
Brainstem expression of ε subunit-containing GABAA receptors isupregulated during pregnancy, particularly in theventral respiratory group .[ 6]
^a b c GRCh38: Ensembl release 89: ENSG00000102287 –Ensembl , May 2017^ "Human PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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– 823.Bibcode :1997Natur.385..820D .doi :10.1038/385820a0 .PMID 9039914 .S2CID 4241881 . ^ 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" (PDF) .J Neurochem .68 (4):1382– 1389.doi :10.1046/j.1471-4159.1997.68041382.x PMID 9084408 . ^a b "Entrez Gene: GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon" .^ Hengen KB, Nelson NR, Stang KM, Johnson SM, Crader SM, Watters JJ, Mitchell GS, Behan M (2012)."Increased GABA(A) receptor ε-subunit expression on ventral respiratory column neurons protects breathing during pregnancy" .PLOS ONE .7 (1) e30608.Bibcode :2012PLoSO...730608H .doi :10.1371/journal.pone.0030608 PMC 3269439 PMID 22303446 . Jones BL, Henderson LP (2007). "Trafficking and potential assembly patterns of epsilon-containing GABAA receptors".J. Neurochem .103 (3):1258– 1271.doi :10.1111/j.1471-4159.2007.04833.x .PMID 17714454 .S2CID 85020515 . 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– 3139.Bibcode :2007BpJ....92.3130R .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 .567 (Pt 2):365– 377.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– 491.doi :10.1016/j.nbd.2004.12.010 .PMID 15755675 .S2CID 10973066 . 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 . 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.Bibcode :2002PNAS...9916899M .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– 475.doi :10.1016/S0028-3908(02)00153-3 .PMID 12367593 .S2CID 54340902 . 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– 3595.doi :10.1523/jneurosci.20-10-03588.2000 PMC 6772669 PMID 10804200 . Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome".Gene .227 (2):213– 222.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– 5037.doi :10.1523/jneurosci.17-13-05027.1997 PMC 6573323 PMID 9185540 . This article incorporates text from theUnited States National Library of Medicine , which is in thepublic domain .
