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]
^ abcGRCh38: 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.
^ ab"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. PMC3269439. PMID 22303446.
Further readingedit
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. PMC1852347. 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. PMC1474194. 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. PMC139241. 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. PMC6772669. 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. PMC6573323. PMID 9185540.
gabre, gamma, aminobutyric, acid, receptor, subunit, epsilon, protein, that, humans, encoded, gene, identifiersaliases, gamma, aminobutyric, acid, type, receptor, epsilon, subunit, gamma, aminobutyric, acid, type, receptor, subunit, epsilonexternal, idsomim, 3. Gamma aminobutyric acid receptor subunit epsilon is a protein that in humans is encoded by the GABRE gene 3 4 5 GABREIdentifiersAliasesGABRE gamma aminobutyric acid type A receptor epsilon subunit gamma aminobutyric acid type A receptor subunit epsilonExternal IDsOMIM 300093 HomoloGene 68425 GeneCards GABREGene location Human Chr X chromosome human 1 BandXq28Start151 953 124 bp 1 End151 974 680 bp 1 RNA expression patternBgeeHumanMouse ortholog Top expressed invaginasubcutaneous adipose tissuecanal of the cervixskin of abdomenminor salivary glandspopliteal arteryleft lobe of thyroid glandright lungright lobe of thyroid glandleft ventriclen aMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionchloride channel activity extracellular ligand gated ion channel activity GABA gated chloride ion channel activity GABA A receptor activity ion channel activity transmembrane signaling receptor activity inhibitory extracellular ligand gated ion channel activity benzodiazepine receptor activity transmitter gated ion channel activity involved in regulation of postsynaptic membrane potentialCellular componentintegral component of membrane cell junction postsynaptic membrane plasma membrane synapse membrane chloride channel complex GABA A receptor complex integral component of plasma membrane dendrite membrane neuron projection postsynapseBiological procession transmembrane transport chloride transport chloride transmembrane transport ion transport negative regulation of chloride transport signal transduction gamma aminobutyric acid signaling pathway chemical synaptic transmission regulation of membrane potential nervous system process synaptic transmission GABAergic regulation of postsynaptic membrane potentialSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2564n aEnsemblENSG00000102287n aUniProtP78334n aRefSeq mRNA NM 004961NM 021984NM 021987NM 021990n aRefSeq protein NP 004952n aLocation UCSC Chr X 151 95 151 97 Mbn aPubMed search 2 n aWikidataView Edit Human 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 e subunit containing GABAA receptors is upregulated during pregnancy particularly in the ventral respiratory group 6 Contents 1 See also 2 References 3 Further reading 4 External linksSee also editGABAA receptorReferences edit 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 e 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 Further reading editJones 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 External links editGABRE protein human at the U S 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 nbsp This membrane protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title GABRE amp oldid 1216406150, wikipedia, wiki, book, books, library,
