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FLASH GENE
Symbol GNAT1 contributors: mct - updated : 31-08-2017
HGNC name G protein subunit alpha transducin 1
HGNC id 4393
Corresponding disease
CSNB7 blindness night congenital, stationary 7, Nougaret type
Location 3p21.31      Physical location : 50.229.042 - 50.235.129
Synonym name
  • guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
  • Synonym symbol(s) GTA1, GBT1, GNATR, CSNB1G; CSNBAD3
    DNA
    TYPE functioning gene
    STRUCTURE 6.09 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see SEMA3F
    RNA
    TRANSCRIPTS type messenger
    text
  • two transcrpit variants encoding the same protein
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 splicing 3617 39 350 - 2008 18240029
    9 splicing 2483 39 350 - 2008 18240029
  • differring in the 3' UTR compared to variant 1
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text heart, retina
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • GTPase domain made of three regions named switches 1, 2 and 3 and including the sites for guanine nucleotide binding and effector interaction
  • secondary structure an helical domain
    conjugated LipoP , PhosphoP
    mono polymer heteromer , trimer
    HOMOLOGY
    interspecies ortholog to murine Gnat1
    homolog to zebrafish gnat1
    Homologene
    FAMILY
  • G-alpha family
  • G(i/o/t/z) subfamily
  • CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • acting as a transducer of a visual impulse between rhodopsin and cGMP-phosphodiesterase
  • likely a GNAT1-independent phototransduction mechanism downstream of rod opsin can support relatively widespread responses in the mammalian visual system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • component of a trimeric guanine binding protein with beta and gamma subunits
  • ADP-ribosylation
  • myristate
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • guanine nucleotide binding
  • protein
  • activating cGMP-phosphodiesterase leading to towing of cGMP concentration and closure of the cGMP dependent cation channels
  • as a dominant partner, GNAT1 may potentially modulate the function of other known UNC119-interacting proteins involved in photoreceptor ciliary trafficking and synaptic regulation, in a light-dependent manner
  • GNAT1, NPHP3, and PKD1 bind with high affinity to UNC119, whereas a peptide derived from a non-ciliary localizing protein (SRC) has low affinity
  • cell & other
    REGULATION
    activated by colored visual impulses
    ASSOCIATED DISORDERS
    corresponding disease(s) CSNB7
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • IRD1 and IRD2 mice harbor a nonsense mutation in the Gnat1 gene, resulting in the absence or suppressed expression of the Tralpha protein, which is the likely cause of rod dysfunction in both mutants