GLRA1

From Wikipedia, the free encyclopedia

Glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome)

Identifiers

GLRA1; MGC138878; MGC138879; STHE

External IDs

OMIM: 138491 MGI: 95747 HomoloGene: 20083

Gene ontology
Molecular Function:	• receptor activity • GABA-A receptor activity • ion channel activity • extracellular ligand-gated ion channel activity • protein binding • glycine binding • extracellular-glycine-gated chloride channel activity • neurotransmitter receptor activity • taurine binding • chloride ion binding
Cellular Component:	• integral to plasma membrane • intracellular membrane-bound organelle • postsynaptic membrane
Biological Process:	• startle response • ion transport • chloride transport • muscle contraction • neuropeptide signaling pathway • synaptic transmission • regulation of membrane potential • negative regulation of transmission of nerve impulse

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000171 (mRNA)
NP_000162 (protein)

XM_990138 (mRNA)
XP_995232 (protein)

Location

Chr 5: 151.18 - 151.28 Mb

Chr 11: 55.36 - 55.45 Mb

Pubmed search

[1]

[2]

Glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome), also known as GLRA1, is a human 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]^[1]

[edit] See also

[edit] References

^ Entrez Gene: GLRA1 glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome).

[edit] Further reading

Ryan SG, Sherman SL, Terry JC, et al. (1992). "Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.". Ann. Neurol. 31 (6): 663–8. doi:10.1002/ana.410310615. PMID 1355335.
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. PMID 2155780.
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. 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. 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. 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): 171–4. 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.
Shiang R, Ryan SG, Zhu YZ, et al. (1994). "Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.". Nat. Genet. 5 (4): 351–8. doi:10.1038/ng1293-351. PMID 8298642.
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. PMID 8571969.
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. PMID 8651283.
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. 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): 1200–6. 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. 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. PMID 9373149.

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v • d • e Ion channel, receptor: ligand-gated ion channels

Cys-loop receptors	5-HT/serotonin: 5-HT₃ (A) GABA: GABA A (α₁, α₂, α₃, α₄, α₅, α₆, β₁, β₂, β₃, γ₂, γ₃, δ, ε, π), GABA C (ρ₁, ρ₂) Glycine: α₁, α₂, β Nicotinic acetylcholine: α1, α2, α3, α4, α5, α7, α9, β1, β2, β3, β4, δ, ε, combinations ((α4)₂(β2)₃, (α7)₅, Ganglion type, Muscle type)

Ionotropic glutamates	AMPA (1, 2, 3, 4) - Kainate (1, 2, 3, 5) - NMDA (1, 2A, 2B, 2C, 2D)

ATP-gated channels	Purinergic receptors: P2X (1, 2, 3, 4, 5, 6, 7)