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FLASH GENE
Symbol GLRA1 contributors: mct - updated : 24-05-2011
HGNC name glycine receptor, alpha 1
HGNC id 4326
Corresponding disease
STHE1 Startle disease, hyperekplexia 1
Location 5q33.1      Physical location : 151.202.074 - 151.304.397
Synonym name
  • glycine receptor 48 kDa subunit
  • glycine receptor strychnine-binding subunit
  • strychnine-sensitive glycine receptor
  • Synonym symbol(s) GLR1, GLYR1, STH2, MGC138878, MGC138879
    DNA
    TYPE functioning gene
    STRUCTURE 102.32 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure two alternative exons 5a, 5b
    MAPPING cloned Y linked N status provisional
    Map see CSF1R , GRIA1
    Physical map
    TCOF1 5q32-q33.1 Treacher Collins-Franceschetti syndrome 1 CD74 5q31.3 CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) RPS14 5q32 ribosomal protein S14 NDST1 5q31.3-q32 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 SYNPO 5q33.1 synaptopodin MYOZ3 5q33.1 myozenin 3 FLJ10290 5q33.1 hypothetical protein FLJ10290 DCTN4 5q31-q32 dynactin 4 (p62) NID67 5q33.1 putative small membrane protein NID67 LRG47 5q33.1 LRG-47-like protein ZNF300 21 zinc finger protein 300 GPX3 5q23 glutathione peroxidase 3 (plasma) TNIP1 5q32-q33.1 TNFAIP3 interacting protein 1 ANXA6 5q32 annexin A6 DKFZP434C171 5q33.1 DKFZP434C171 protein GM2A 5q32 GM2 ganglioside activator protein SLC36A3 5q33.1 solute carrier family 36 (proton/amino acid symporter), member 3 SLC36A2 5q33.1 solute carrier family 36 (proton/amino acid symporter), member 2 LOC391840 5 similar to Thyroid hormone receptor-associated protein complex 240 kDa component (Trap240) (Activator-recruited cofactor 250 kDa component) (ARC250) LOC391841 5 similar to hypothetical protein DKFZp761H0421 SLC36A1 5q33.1 solute carrier family 36 (proton/amino acid symporter), member 1 FAT2 5q31-q32 FAT tumor suppressor homolog 2 (Drosophila) SPARC 5q32 secreted protein, acidic, cysteine-rich (osteonectin) ATOX1 5q32-q33 ATX1 antioxidant protein 1 homolog (yeast) LOC389338 5 LOC389338 G3BP 5q33.3 LOC389338 GLRA1 5q32 glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome) GLULL1 5q33 glutamate-ammonia ligase (glutamine synthase)-like 1 NMU2R 5q33.2 neuromedin U receptor 2
    RNA
    TRANSCRIPTS type messenger
    text two forms differing by exon 5, 5a or 5b
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1811 - 449 - 2010 19959465
    - - 1835 - 457 - 2010 19959465
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainmidbrain   
     spinal cord    
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • ligand gated ion (Cl) channel
  • four transmembrane segments (4TM)
  • a ligand-binding extracellular domain (ECD)
  • multifunctional basic motif of the TM3-4 loop is capable of mediating a karyopherin-dependent intracellular sorting of GLRA1 (
  • mono polymer homomer , heteromer , pentamer
    HOMOLOGY
    Homologene
    FAMILY
  • ligand-gated chloride channel family
  • CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • glycine fast reponse transduction, inhibitory chloride channel
  • ligand-gated ion channel that mediates fast synaptic inhibition in the vertebrate central nervous system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
  • three ligand-binding alpha1 subunits and two structural beta subunits
  • INTERACTION
    DNA
    RNA
    small molecule other,
  • strychnine
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) STHE1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS