Glycine receptor, alpha 1

Glycine receptor, alpha 1
Rendering of GLRA1 from PDB 1MOT
Available structures PDB 1MOT, 1VRY
Identifiers
Symbols	GLRA1; MGC138878; MGC138879; STHE
External IDs	OMIM: 138491 MGI: 95747 HomoloGene: 20083 IUPHAR: α1 GeneCards: GLRA1 Gene
Gene Ontology Molecular function • receptor activity • ion channel activity • extracellular ligand-gated ion channel activity • protein binding • glycine binding • extracellular-glycine-gated chloride channel activity • extracellular-glycine-gated chloride channel activity • extracellular-glycine-gated chloride channel activity • transmitter-gated ion channel activity • taurine binding Cellular component • plasma membrane • integral to plasma membrane • integral to plasma membrane • integral to plasma membrane • integral to membrane • cell junction • chloride channel complex • intracellular membrane-bounded organelle • synapse • postsynaptic membrane Biological process • startle response • ion transport • chloride transport • muscle contraction • neuropeptide signaling pathway • ion transmembrane transport • regulation of membrane potential • negative regulation of transmission of nerve impulse • transmembrane transport • positive regulation of acrosome reaction Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2741	14654
Ensembl	ENSG00000145888	ENSMUSG00000000263
UniProt	P23415	Q5NCT8
RefSeq (mRNA)	NM_000171.3	NM_020492.3
RefSeq (protein)	NP_000162.2	NP_065238.2
Location (UCSC)	Chr 5: 151.2 – 151.3 Mb	Chr 11: 55.33 – 55.42 Mb
PubMed search	[1]	[2]

Glycine receptor subunit alpha-1 is a protein that in humans is encoded by the GLRA1 gene.

The inhibitory glycine receptor mediates postsynaptic inhibition in the spinal cord and other regions of the central nervous system. It is a pentameric receptor composed of alpha and beta subunits. The GLRB gene (MIM 138492) encodes the beta subunit of the receptor.[supplied by OMIM]

See also

• Glycine receptor
• Stiff person syndrome

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): 559–66. PMID 1845981. 
• Grenningloh G, Schmieden V, Schofield PR, et al. (1990). "Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes.". EMBO J. 9 (3): 771–6. PMC 551735. PMID 2155780. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=551735. 
• Langosch D, Herbold A, Schmieden V, et al. (1994). "Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors.". FEBS Lett. 336 (3): 540–4. doi:10.1016/0014-5793(93)80872-R. PMID 7506679. 
• Shiang R, Ryan SG, Zhu YZ, et al. (1995). "Mutational analysis of familial and sporadic hyperekplexia.". Ann. Neurol. 38 (1): 85–91. doi:10.1002/ana.410380115. PMID 7611730. 
• Baker E, Sutherland GR, Schofield PR (1995). "Localization of the glycine receptor alpha 1 subunit gene (GLRA1) to chromosome 5q32 by FISH.". Genomics 22 (2): 491–3. doi:10.1006/geno.1994.1419. 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): 2175–9. doi:10.1093/hmg/3.12.2175. PMID 7881416. 
• Ryan SG, Buckwalter MS, Lynch JW, et al. (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): 131–5. doi:10.1038/ng0694-131. PMID 7920629. 
• Langosch D, Laube B, Rundström N, et al. (1994). "Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia.". EMBO J. 13 (18): 4223–8. PMC 395349. PMID 7925268. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=395349. 
• 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. doi:10.1093/hmg/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): 171–4. doi:10.1016/0378-1119(94)90802-8. 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. PMC 394970. PMID 8137830. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=394970. 
• Milani N, Dalprá L, del Prete A, et al. (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): 420–2. PMC 1914546. PMID 8571969. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1914546. 
• Brune W, Weber RG, Saul B, et al. (1996). "A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.". Am. J. Hum. Genet. 58 (5): 989–97. PMC 1914607. PMID 8651283. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1914607. 
• Elmslie FV, Hutchings SM, Spencer V, et al. (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): 435–6. doi:10.1136/jmg.33.5.435. PMC 1050620. PMID 8733061. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1050620. 
• 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): 1200–6. doi:10.1101/gr.6.12.1200. PMID 8973915. 
• Seri M, Bolino A, Galietta LJ, et al. (1997). "Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.". Hum. Mutat. 9 (2): 185–7. doi:10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z. PMID 9067762. 
• Vergouwe MN, Tijssen MA, Shiang R, et al. (1998). "Hyperekplexia-like syndromes without mutations in the GLRA1 gene.". Clinical neurology and neurosurgery 99 (3): 172–8. doi:10.1016/S0303-8467(97)00022-X. PMID 9350397. 
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.