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FLASH GENE
Symbol NADSYN1 contributors: mct - updated : 22-01-2020
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal carbon-nitrogen hydrolase domain
  • a P-loop ATP-binding site
  • a C-terminal NAD synthase domain
    • mono polymer homomer , hexamer
    HOMOLOGY
    interspecies ortholog to yeast Qns1p
    Homologene
    FAMILY nad synthetase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • catalyzing the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD)
  • utilizing both glutamine and ammonia as amide donors
  • VDR, NADSYN1, and GC polymorphisms may be linked to the manifestation of vitamin D deficiency in Japanese children
  • represents an additional gene required for NAD synthesis during embryogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism cofactor
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • ATP
  • Mg2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) VACTERL2
    Susceptibility
  • to vitamin D deficiency in Uygur and Kazak ethnic populations
  • to rheumatoid arthritis (RA)
    • Variant & Polymorphism SNP
  • DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations
  • SNPs in the DHCR7/NADSYN1 locus showed evidence of positive association with RA, rs4944076
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS