Protein-coding gene in humans
Gamma-aminobutyric acid receptor subunit epsilon is a protein that in humans is encoded by the GABRE 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 is upregulated during pregnancy, particularly in the ventral respiratory group .[ 6]
See also
References
^ 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 .
Further reading
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 .
External links
This article incorporates text from the United States National Library of Medicine , which is in the public domain .