GABRE: Difference between revisions

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Latest revision as of 08:36, 31 August 2017

Gamma-aminobutyric acid receptor subunit epsilon is a protein that in humans is encoded by the GABRE gene.^[1]^[2]^[3]

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.^[3]

Brainstem expression of ε subunit-containing GABA_A receptors is upregulated during pregnancy, particularly in the ventral respiratory group.^[4]

References

↑ 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): 820–3. doi:10.1038/385820a0. PMID 9039914.
↑ 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". J Neurochem. 68 (4): 1382–9. doi:10.1046/j.1471-4159.1997.68041382.x. PMID 9084408.
↑ ^3.0 ^3.1 "Entrez Gene: GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon".
↑ Hengen KB et al. (2012). PMID 22303446

Jones BL, Henderson LP (2007). "Trafficking and potential assembly patterns of epsilon-containing GABAA receptors". J. Neurochem. 103 (3): 1258–71. doi:10.1111/j.1471-4159.2007.04833.x. PMID 17714454.
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): 3130–9. 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): 365–77. 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): 484–91. doi:10.1016/j.nbd.2004.12.010. PMID 15755675.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 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): 16899–903. 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): 467–75. doi:10.1016/S0028-3908(02)00153-3. PMID 12367593.
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): 3588–95. PMID 10804200.
Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome". Gene. 227 (2): 213–22. 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): 5027–37. PMID 9185540.

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GABRE+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

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[pmid9039914-1] 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): 820–3. doi:10.1038/385820a0. PMID 9039914.

[pmid9084408-2] 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". J Neurochem. 68 (4): 1382–9. doi:10.1046/j.1471-4159.1997.68041382.x. PMID 9084408.

[entrez-3] 3.0 ^3.1 "Entrez Gene: GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon".

[4] Hengen KB et al. (2012). PMID 22303446

[1]

[2]

[3]

[4]

@@ Line 1: / Line 1: @@
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+'''Gamma-aminobutyric acid receptor subunit epsilon''' is a [[protein]] that in humans is encoded by the ''GABRE'' [[gene]].<ref name="pmid9039914">{{cite journal |vauthors=Davies PA, Hanna MC, Hales TG, Kirkness EF | title = Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit | journal = Nature | volume = 385 | issue = 6619 | pages = 820–3 |date=Mar 1997 | pmid = 9039914 | pmc =  | doi = 10.1038/385820a0 }}</ref><ref name="pmid9084408">{{cite journal |vauthors=Garret M, Bascles L, Boue-Grabot E, Sartor P, Charron G, Bloch B, Margolskee RF | title = An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system | journal = J Neurochem | volume = 68 | issue = 4 | pages = 1382–9 |date=Apr 1997 | pmid = 9084408 | pmc =  | doi =10.1046/j.1471-4159.1997.68041382.x  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2564| accessdate = }}</ref>
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- | image =
- | image_source =
- | PDB =
- | Name = Gamma-aminobutyric acid (GABA) A receptor, epsilon
- | HGNCid = 4085
- | Symbol = GABRE
- | AltSymbols =;
- | OMIM = 300093
- | ECnumber =
- | Homologene = 68425
- | MGIid = 1330235
-  | GeneAtlas_image1 = PBB_GE_GABRE_204537_s_at_tn.png
- | Function = {{GNF_GO|id=GO:0004890 |text = GABA-A receptor activity}} {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{GNF_GO|id=GO:0005230 |text = extracellular ligand-gated ion channel activity}} {{GNF_GO|id=GO:0005254 |text = chloride channel activity}} {{GNF_GO|id=GO:0030594 |text = neurotransmitter receptor activity}} {{GNF_GO|id=GO:0031404 |text = chloride ion binding}}
- | Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0045211 |text = postsynaptic membrane}}
-  | Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0007214 |text = gamma-aminobutyric acid signaling pathway}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 2564
-    | Hs_Ensembl = ENSG00000102287
-    | Hs_RefseqProtein = NP_004952
-    | Hs_RefseqmRNA = NM_004961
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = X
-    | Hs_GenLoc_start = 150872252
-    | Hs_GenLoc_end = 150893807
-    | Hs_Uniprot = P78334
-    | Mm_EntrezGene = 14404
-    | Mm_Ensembl = ENSMUSG00000031340
-    | Mm_RefseqmRNA = NM_017369
-    | Mm_RefseqProtein = NP_059065
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = X
-    | Mm_GenLoc_start = 68510152
-    | Mm_GenLoc_end = 68527441
-    | Mm_Uniprot =
-  }}
-}}
-'''Gamma-aminobutyric acid (GABA) A receptor, epsilon''', also known as '''GABRE''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2564| accessdate = }}</ref>
 <!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
 {{PBB_Summary
 | section_title =
-| summary_text = 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 comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants encoding different isoforms have been identified.<ref name="entrez">{{cite web | title = Entrez Gene: GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2564| accessdate = }}</ref>
+| summary_text = 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.<ref name="entrez" />
 }}
+[[Brainstem]] [[gene expression|expression]] of ε subunit-containing GABA<sub>A</sub> receptors is [[Upregulation|upregulated]] during pregnancy, particularly in the [[ventral respiratory group]].<ref>Hengen KB ''et al.'' (2012). {{PMID|22303446}}</ref>
 ==See also==
@@ Line 58: / Line 14: @@
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
@@ Line 64: / Line 20: @@
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Jones BL, Henderson LP |title=Trafficking and potential assembly patterns of epsilon-containing GABAA receptors. |journal=J. Neurochem. |volume=103 |issue= 3 |pages= 1258-71 |year= 2007 |pmid= 17714454 |doi= 10.1111/j.1471-4159.2007.04833.x }}
+*{{cite journal  |vauthors=Jones BL, Henderson LP |title=Trafficking and potential assembly patterns of epsilon-containing GABAA receptors |journal=J. Neurochem. |volume=103 |issue= 3 |pages= 1258–71 |year= 2007 |pmid= 17714454 |doi= 10.1111/j.1471-4159.2007.04833.x }}
-*{{cite journal  | author=Rosen A, Bali M, Horenstein J, Akabas MH |title=Channel opening by anesthetics and GABA induces similar changes in the GABAA receptor M2 segment. |journal=Biophys. J. |volume=92 |issue= 9 |pages= 3130-9 |year= 2007 |pmid= 17293408 |doi= 10.1529/biophysj.106.094490 }}
+*{{cite journal  |vauthors=Rosen A, Bali M, Horenstein J, Akabas MH |title=Channel opening by anesthetics and GABA induces similar changes in the GABAA receptor M2 segment |journal=Biophys. J. |volume=92 |issue= 9 |pages= 3130–9 |year= 2007 |pmid= 17293408 |doi= 10.1529/biophysj.106.094490  | pmc=1852347 }}
-*{{cite journal  | author=Wilkins ME, Hosie AM, Smart TG |title=Proton modulation of recombinant GABA(A) receptors: influence of GABA concentration and the beta subunit TM2-TM3 domain. |journal=J. Physiol. (Lond.) |volume=567 |issue= Pt 2 |pages= 365-77 |year= 2005 |pmid= 15946973 |doi= 10.1113/jphysiol.2005.088823 }}
+*{{cite journal  |vauthors=Wilkins ME, Hosie AM, Smart TG |title=Proton modulation of recombinant GABA(A) receptors: influence of GABA concentration and the beta subunit TM2-TM3 domain |journal=J. Physiol. |volume=567 |issue= Pt 2 |pages= 365–77 |year= 2005 |pmid= 15946973 |doi= 10.1113/jphysiol.2005.088823  | pmc=1474194 }}
-*{{cite journal  | author=Porter BE, Zhang G, Celix J, ''et al.'' |title=Heterogeneous GABAA receptor subunit expression in pediatric epilepsy patients. |journal=Neurobiol. Dis. |volume=18 |issue= 3 |pages= 484-91 |year= 2005 |pmid= 15755675 |doi= 10.1016/j.nbd.2004.12.010 }}
+*{{cite journal  |vauthors=Porter BE, Zhang G, Celix J |title=Heterogeneous GABAA receptor subunit expression in pediatric epilepsy patients |journal=Neurobiol. Dis. |volume=18 |issue= 3 |pages= 484–91 |year= 2005 |pmid= 15755675 |doi= 10.1016/j.nbd.2004.12.010 |display-authors=etal}}
-*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
+*{{cite journal  |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |display-authors=etal}}
-*{{cite journal  | author=Davies PA, McCartney MR, Wang W, ''et al.'' |title=Alternative transcripts of the GABA(A) receptor epsilon subunit in human and rat. |journal=Neuropharmacology |volume=43 |issue= 4 |pages= 467-75 |year= 2002 |pmid= 12367593 |doi=  }}
+*{{cite journal  |vauthors=Davies PA, McCartney MR, Wang W |title=Alternative transcripts of the GABA(A) receptor epsilon subunit in human and rat |journal=Neuropharmacology |volume=43 |issue= 4 |pages= 467–75 |year= 2002 |pmid= 12367593 |doi=10.1016/S0028-3908(02)00153-3  |display-authors=etal}}
-*{{cite journal  | author=Sinkkonen ST, Hanna MC, Kirkness EF, Korpi ER |title=GABA(A) receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus. |journal=J. Neurosci. |volume=20 |issue= 10 |pages= 3588-95 |year= 2000 |pmid= 10804200 |doi=  }}
+*{{cite journal  |vauthors=Sinkkonen ST, Hanna MC, Kirkness EF, Korpi ER |title=GABA(A) receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus |journal=J. Neurosci. |volume=20 |issue= 10 |pages= 3588–95 |year= 2000 |pmid= 10804200 |doi=  }}
-*{{cite journal  | author=Russek SJ |title=Evolution of GABA(A) receptor diversity in the human genome. |journal=Gene |volume=227 |issue= 2 |pages= 213-22 |year= 1999 |pmid= 10023064 |doi=  }}
+*{{cite journal  | author=Russek SJ |title=Evolution of GABA(A) receptor diversity in the human genome |journal=Gene |volume=227 |issue= 2 |pages= 213–22 |year= 1999 |pmid= 10023064 |doi=10.1016/S0378-1119(98)00594-0  }}
-*{{cite journal  | author=Wilke K, Gaul R, Klauck SM, Poustka A |title=A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABAA neurotransmitter receptor. |journal=Genomics |volume=45 |issue= 1 |pages= 1-10 |year= 1997 |pmid= 9339354 |doi= 10.1006/geno.1997.4885 }}
+*{{cite journal  |vauthors=Wilke K, Gaul R, Klauck SM, Poustka A |title=A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABAA neurotransmitter receptor |journal=Genomics |volume=45 |issue= 1 |pages= 1–10 |year= 1997 |pmid= 9339354 |doi= 10.1006/geno.1997.4885 }}
-*{{cite journal  | author=Whiting PJ, McAllister G, Vassilatis D, ''et al.'' |title=Neuronally restricted RNA splicing regulates the expression of a novel GABAA receptor subunit conferring atypical functional properties [corrected; erratum to be published] |journal=J. Neurosci. |volume=17 |issue= 13 |pages= 5027-37 |year= 1997 |pmid= 9185540 |doi=  }}
+*{{cite journal  |vauthors=Whiting PJ, McAllister G, Vassilatis D |title=Neuronally restricted RNA splicing regulates the expression of a novel GABAA receptor subunit conferring atypical functional properties [corrected; erratum to be published] |journal=J. Neurosci. |volume=17 |issue= 13 |pages= 5027–37 |year= 1997 |pmid= 9185540 |doi=  |display-authors=etal}}
-*{{cite journal  | author=Garret M, Bascles L, Boue-Grabot E, ''et al.'' |title=An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system. |journal=J. Neurochem. |volume=68 |issue= 4 |pages= 1382-9 |year= 1997 |pmid= 9084408 |doi=  }}
-*{{cite journal  | author=Davies PA, Hanna MC, Hales TG, Kirkness EF |title=Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit. |journal=Nature |volume=385 |issue= 6619 |pages= 820-3 |year= 1997 |pmid= 9039914 |doi= 10.1038/385820a0 }}
 }}
 {{refend}}
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 * {{MeshName|GABRE+protein,+human}}
-{{membrane-protein-stub}}
 {{NLM content}}
 {{Ligand-gated ion channels}}
+<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{PBB_Controls
+| update_page = yes
+| require_manual_inspection = no
+| update_protein_box = yes
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+| update_citations = yes
+}}
 [[Category:Ion channels]]
-{{WikiDoc Sources}}
+{{membrane-protein-stub}}

GABRE: Difference between revisions

Latest revision as of 08:36, 31 August 2017

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References

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