GABRE

Gamma-aminobutyric acid receptor subunit epsilon is a protein that in humans is encoded by the GABRE gene.

GABRE
Identifiers
Aliases	GABRE, gamma-aminobutyric acid type A receptor epsilon subunit, gamma-aminobutyric acid type A receptor subunit epsilon
External IDs	OMIM: 300093; HomoloGene: 68425; GeneCards: GABRE; OMA:GABRE - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xq28 Start 151,953,124 bp End 151,974,680 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vagina subcutaneous adipose tissue apex of heart ectocervix canal of the cervix skin of abdomen minor salivary glands skin of leg popliteal artery tibial arteries n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function chloride 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 potential Cellular component integral 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 postsynapse Biological process ion 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 potential Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2564 n/a Ensembl ENSG00000102287 n/a UniProt P78334 n/a RefSeq (mRNA) NM_004961 NM_021984 NM_021987 NM_021990 n/a RefSeq (protein) NP_004952 n/a Location (UCSC) Chr X: 151.95 – 151.97 Mb n/a PubMed search n/a
Wikidata
View/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.

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

See also

• GABAA receptor

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

• GABRE+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.