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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
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
  • PDE6G with RHO, GNAT1, GNB1, are active in phototransduction in rods only
    • 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