Glycine receptor subunit alpha-1


NameGlycine receptor subunit alpha-1
SynonymsGlycine receptor 48 kDa subunit Glycine receptor strychnine-binding subunit
Gene NameGLRA1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0000863|Glycine receptor subunit alpha-1
MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNF
KGPPVNVSCNIFINSFGSIAETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDS
IWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRITLTLACPMDLKNFPMDVQTC
IMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKHYNTGKFTCIEA
RFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRA
SLPKVSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKSPMLNLF
QEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSKSPEEMRKLFIQRA
KKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ
Number of residues457
Molecular Weight52623.35
Theoretical pI9.04
GO Classification
Functions
    glycine binding
    taurine binding
    extracellular-glycine-gated chloride channel activity
    transmitter-gated ion channel activity
Processes
    regulation of membrane potential
    startle response
    action potential
    transmembrane transport
    muscle contraction
    ion transport
    positive regulation of acrosome reaction
    regulation of respiratory gaseous exchange by neurological system process
    chloride transport
    acrosome reaction
    ion transmembrane transport
    adult walking behavior
    neuromuscular process controlling posture
    inhibitory postsynaptic potential
    neuropeptide signaling pathway
    righting reflex
    visual perception
    chloride transmembrane transport
    negative regulation of transmission of nerve impulse
    response to amino acid
    synaptic transmission, glycinergic
Components
    external side of plasma membrane
    integral component of plasma membrane
    intracellular membrane-bounded organelle
    postsynaptic membrane
    inhibitory synapse
    synapse
    plasma membrane
    neuron projection
    chloride channel complex
    cell junction
    integral component of membrane
General FunctionTransmitter-gated ion channel activity
Specific FunctionThe 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).
Transmembrane Regions248-274 281-298 313-336 429-446
GenBank Protein ID31851
UniProtKB IDP23415
UniProtKB Entry NameGLRA1_HUMAN
Cellular LocationCell junction
Gene sequence
>lcl|BSEQ0016090|Glycine receptor subunit alpha-1 (GLRA1)
ATGTACAGCTTCAATACTCTTCGACTCTACCTTTGGGAGACCATTGTATTCTTCAGCCTT
GCTGCTTCTAAGGAGGCTGAAGCTGCTCGCTCCGCACCCAAGCCTATGTCACCCTCGGAT
TTCCTGGATAAGCTAATGGGGAGAACCTCCGGATATGATGCCAGGATCAGGCCCAATTTT
AAAGGTCCCCCAGTGAACGTGAGCTGCAACATTTTCATCAACAGCTTTGGTTCCATTGCT
GAGACAACCATGGACTATAGGGTCAACATCTTCCTGCGGCAGCAATGGAACGACCCCCGC
CTGGCCTATAATGAATACCCTGACGACTCTCTGGACCTGGACCCATCCATGCTGGACTCC
ATCTGGAAACCTGACCTGTTCTTTGCCAACGAGAAGGGGGCCCACTTCCATGAGATCACC
ACAGACAACAAATTGCTAAGGATCTCCCGGAATGGGAATGTCCTCTACAGCATCAGAATC
ACCCTGACACTGGCCTGCCCCATGGACTTGAAGAATTTCCCCATGGATGTCCAGACATGT
ATCATGCAACTGGAAAGCTTTGGATATACGATGAATGACCTCATCTTTGAGTGGCAGGAA
CAGGGAGCCGTGCAGGTAGCAGATGGACTAACTCTGCCCCAGTTTATCTTGAAGGAAGAG
AAGGACTTGAGATACTGCACCAAGCACTACAACACAGGTAAATTCACCTGCATTGAGGCC
CGGTTCCACCTGGAGCGGCAGATGGGTTACTACCTGATTCAGATGTATATTCCCAGCCTG
CTCATTGTCATCCTCTCATGGATCTCCTTCTGGATCAACATGGATGCTGCACCTGCTCGT
GTGGGCCTAGGCATCACCACTGTGCTCACCATGACCACCCAGAGCTCCGGCTCTCGAGCA
TCTCTGCCCAAGGTGTCCTATGTGAAAGCCATTGACATTTGGATGGCAGTTTGCCTGCTC
TTTGTGTTCTCAGCCCTATTAGAATATGCTGCCGTTAACTTTGTGTCTCGGCAACATAAG
GAGCTGCTCCGATTCAGGAGGAAGCGGAGACATCACAAGGAGGATGAAGCTGGAGAAGGC
CGCTTTAACTTCTCTGCCTATGGGATGGGCCCAGCCTGTCTACAGGCCAAGGATGGCATC
TCAGTCAAGGGCGCCAACAACAGTAACACCACCAACCCCCCTCCTGCACCATCTAAGTCC
CCAGAGGAGATGCGAAAACTCTTCATCCAGAGGGCCAAGAAGATCGACAAAATATCCCGC
ATTGGCTTCCCCATGGCCTTCCTCATTTTCAACATGTTCTACTGGATCATCTACAAGATT
GTCCGTAGAGAGGACGTCCACAACCAGTGA
GenBank Gene IDX52009
GeneCard IDNone
GenAtlas IDGLRA1
HGNC IDHGNC:4326
Chromosome Location5
Locus5q32
References
  1. 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.[7881416 ]
  2. 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.[7611730 ]
  3. 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.[15952785 ]
  4. 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.[8298642 ]
  5. 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.[7925268 ]
  6. 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.[7981700 ]
  7. Grenningloh G, Schmieden V, Schofield PR, Seeburg PH, Siddique T, Mohandas TK, Becker CM, Betz H: Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. EMBO J. 1990 Mar;9(3):771-6.[2155780 ]
  8. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7.[15489334 ]
  9. Vogel N, Kluck CJ, Melzer N, Schwarzinger S, Breitinger U, Seeber S, Becker CM: Mapping of disulfide bonds within the amino-terminal extracellular domain of the inhibitory glycine receptor. J Biol Chem. 2009 Dec 25;284(52):36128-36. doi: 10.1074/jbc.M109.043448. Epub 2009 Oct 27.[19861413 ]
  10. Durisic N, Godin AG, Wever CM, Heyes CD, Lakadamyali M, Dent JA: Stoichiometry of the human glycine receptor revealed by direct subunit counting. J Neurosci. 2012 Sep 12;32(37):12915-20. doi: 10.1523/JNEUROSCI.2050-12.2012.[22973015 ]
  11. Yushmanov VE, Mandal PK, Liu Z, Tang P, Xu Y: NMR structure and backbone dynamics of the extended second transmembrane domain of the human neuronal glycine receptor alpha1 subunit. Biochemistry. 2003 Apr 8;42(13):3989-95.[12667090 ]
  12. 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.[8733061 ]
  13. 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.[9067762 ]
  14. 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.[10514101 ]
  15. 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.[9920650 ]
  16. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21.[14702039 ]
  17. 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.[8571969 ]

Related FRC


FRCD ID Name Exact Mass Structure



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46.07



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289.375



Brucine




394.471



Strychnine




334.419



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294.303



Isobutane




58.124



Glycine




75.067