GABRE

Protein-coding gene in humans
GABRE
Identifiers
AliasesGABRE, gamma-aminobutyric acid type A receptor epsilon subunit, gamma-aminobutyric acid type A receptor subunit epsilon
External IDsOMIM: 300093; HomoloGene: 68425; GeneCards: GABRE; OMA:GABRE - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for GABRE
Genomic location for GABRE
BandXq28Start151,953,124 bp[1]
End151,974,680 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • vagina

  • subcutaneous adipose tissue

  • canal of the cervix

  • skin of abdomen

  • minor salivary glands

  • popliteal artery

  • left lobe of thyroid gland

  • right lung

  • right lobe of thyroid gland

  • left ventricle
    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
SpeciesHumanMouse
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 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000102287 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ 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.
  4. ^ 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.
  5. ^ a b "Entrez Gene: GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon".
  6. ^ 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.

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