Glycine receptor, alpha 1
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| Location (UCSC) | Chr 5: 151.82 – 151.92 Mb | Chr 11: 55.41 – 55.5 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Glycine receptor subunit alpha-1 is a protein that in humans is encoded by the GLRA1 gene.[5][6]
Function
The inhibitory
postsynaptic inhibition in the spinal cord and other regions of the central nervous system. It is a pentameric receptor composed solely of alpha subunits. The GLRB gene encodes the alpha subunit of the receptor.[7]
Clinical significance
Mutations in the gene have been associated with hyperekplexia, a neurologic syndrome associated with an exaggerated startle reaction.[8][9]
See also
- Glycine receptor
- Stiff person syndrome
- Hyperekplexia
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000145888 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000263 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 28879043.
- S2CID 21410824.
- ^ "Entrez Gene: GLRA1 glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome)".
- S2CID 14067463.
- S2CID 40864297.
Further reading
- Ruiz-Gómez A, Vaello ML, Valdivieso F, Mayor F (1991). "Phosphorylation of the 48-kDa subunit of the glycine receptor by protein kinase C". J. Biol. Chem. 266 (1): 559–566. PMID 1845981.
- Grenningloh G, Schmieden V, Schofield PR, Seeburg PH, Siddique T, Mohandas TK, Becker CM, Betz H (1990). "Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes". EMBO J. 9 (3): 771–776. PMID 2155780.
- Langosch D, Herbold A, Schmieden V, Borman J, Kirsch J (1994). "Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors". FEBS Lett. 336 (3): 540–544. S2CID 84795107.
- Shiang R, Ryan SG, Zhu YZ, Fielder TJ, Allen RJ, Fryer A, Yamashita S, O'Connell P, Wasmuth JJ (1995). "Mutational analysis of familial and sporadic hyperekplexia". Ann. Neurol. 38 (1): 85–91. S2CID 22129217.
- Baker E, PMID 7806244.
- Rees MI, Andrew M, Jawad S, Owen MJ (1995). "Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor". Hum. Mol. Genet. 3 (12): 2175–2179. PMID 7881416.
- Ryan SG, Buckwalter MS, Lynch JW, Handford CA, Segura L, Shiang R, Wasmuth JJ, Camper SA, Schofield P, O'Connell P (1994). "A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse". Nat. Genet. 7 (2): 131–135. S2CID 32946709.
- Langosch D, Laube B, Rundström N, Schmieden V, Bormann J, Betz H (1994). "Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia". EMBO J. 13 (18): 4223–4228. PMID 7925268.
- Schorderet DF, Pescia G, Bernasconi A, Regli F (1995). "An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene". Hum. Mol. Genet. 3 (7): 1201. PMID 7981700.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. PMID 8125298.
- Bormann J, Rundström N, Betz H, Langosch D (1994). "Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers". EMBO J. 13 (6): 1493. PMID 8137830.
- Milani N, Dalprá L, del Prete A, Zanini R, Larizza L (1996). "A novel mutation (Gln266→His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia". Am. J. Hum. Genet. 58 (2): 420–422. PMID 8571969.
- Brune W, Weber RG, Saul B, von Knebel Doeberitz M, Grond-Ginsbach C, Kellerman K, Meinck HM, Becker CM (1996). "A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors". Am. J. Hum. Genet. 58 (5): 989–997. PMID 8651283.
- Elmslie FV, Hutchings SM, Spencer V, Curtis A, Covanis T, Gardiner RM, Rees M (1996). "Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis". J. Med. Genet. 33 (5): 435–436. PMID 8733061.
- Monani U, Burghes AH (1997). "Structure of the human alpha 2 subunit gene of the glycine receptor--use of vectorette and Alu-exon PCR". Genome Res. 6 (12): 1200–1206. PMID 8973915.
- Seri M, Bolino A, Galietta LJ, Lerone M, Silengo M, Romeo G (1997). "Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor". Hum. Mutat. 9 (2): 185–187. S2CID 38078893.
- Vergouwe MN, Tijssen MA, Shiang R, van Dijk JG, al Shahwan S, Ophoff RA, Frants RR (1998). "Hyperekplexia-like syndromes without mutations in the GLRA1 gene". Clinical Neurology and Neurosurgery. 99 (3): 172–178. S2CID 43274005.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. PMID 9373149.
External links
- Overview of all the structural information available in the PDB for UniProt: P23415 (Glycine receptor subunit alpha-1) at the PDBe-KB.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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