1vry

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Template:STRUCTURE 1vry

Contents

Second and Third Transmembrane Domains of the Alpha-1 Subunit of Human Glycine Receptor

Template:ABSTRACT PUBMED 15952785

Disease

[GLRA1_HUMAN] Defects in GLRA1 are the cause of hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400]. A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.[1][:][2][3][4][5][6][7][8][9][10]

Function

[GLRA1_HUMAN] The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing).

About this Structure

1vry is a 1 chain structure with sequence from Homo sapiens. This structure supersedes the now removed PDB entry 1zhd. Full experimental information is available from OCA.

Reference

  • Ma D, Liu Z, Li L, Tang P, Xu Y. Structure and dynamics of the second and third transmembrane domains of human glycine receptor. Biochemistry. 2005 Jun 21;44(24):8790-800. PMID:15952785 doi:http://dx.doi.org/10.1021/bi050256n
  1. ↑ Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet. 1993 Dec;5(4):351-8. PMID:8298642 doi:http://dx.doi.org/10.1038/ng1293-351
  2. ↑ Langosch D, Laube B, Rundstrom N, Schmieden V, Bormann J, Betz H. Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia. EMBO J. 1994 Sep 15;13(18):4223-8. PMID:7925268
  3. ↑ Schorderet DF, Pescia G, Bernasconi A, Regli F. An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene. Hum Mol Genet. 1994 Jul;3(7):1201. PMID:7981700
  4. ↑ Rees MI, Andrew M, Jawad S, Owen MJ. 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. 1994 Dec;3(12):2175-9. PMID:7881416
  5. ↑ Shiang R, Ryan SG, Zhu YZ, Fielder TJ, Allen RJ, Fryer A, Yamashita S, O'Connell P, Wasmuth JJ. Mutational analysis of familial and sporadic hyperekplexia. Ann Neurol. 1995 Jul;38(1):85-91. PMID:7611730 doi:http://dx.doi.org/10.1002/ana.410380115
  6. ↑ Milani N, Dalpra L, del Prete A, Zanini R, Larizza L. A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. Am J Hum Genet. 1996 Feb;58(2):420-2. PMID:8571969
  7. ↑ Elmslie FV, Hutchings SM, Spencer V, Curtis A, Covanis T, Gardiner RM, Rees M. Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. J Med Genet. 1996 May;33(5):435-6. PMID:8733061
  8. ↑ Seri M, Bolino A, Galietta LJ, Lerone M, Silengo M, Romeo G. Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor. Hum Mutat. 1997;9(2):185-7. PMID:9067762 doi:<185::AID-HUMU14>3.0.CO;2-Z 10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z
  9. ↑ Vergouwe MN, Tijssen MA, Peters AC, Wielaard R, Frants RR. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. Ann Neurol. 1999 Oct;46(4):634-8. PMID:10514101
  10. ↑ Saul B, Kuner T, Sobetzko D, Brune W, Hanefeld F, Meinck HM, Becker CM. Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. J Neurosci. 1999 Feb 1;19(3):869-77. PMID:9920650

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