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FLASH GENE
Symbol NADSYN1 contributors: mct - updated : 22-01-2020
Corresponding disease
VACTERL2 VATER association (Vertebral defects, Anal atresia, Tracheoesophageal fistula with Esophageal atresia, Renal anomalies and Radial dysplasia) 2
Location 11q13.4      Physical location : 71.164.216 - 71.212.579
Genatlas name NAD synthetase 1
Synonym name glutamine-dependent NAD synthetase
Synonym symbol(s) FLJ10631, FLJ36703, FLJ40627
EC.number 6.3.5.1
DNA
TYPE functioning gene
STRUCTURE 48.61 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status
Physical map
EMS1 11q13.3 ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate) SHANK2 11q11 SH3 and multiple ankyrin repeat domains 2 LOC220070 11q13.2 hypothetical protein BC004224 LOC341140 11q13.2 similar to Actin, alpha 1, skeletal muscle DHCR7 11q13.2-q13.5 7-dehydrocholesterol reductase NADSYN1 11q13.2 NAD synthetase 1 LOC57830 11q13.2 UHS KerB KRN1 11q13.5 keratin, cuticle, ultrahigh sulphur 1 LOC390219 11 LOC390219 OR7E3P 11q13 olfactory receptor, family 7, subfamily E, member 3 pseudogene LOC255620 11q13.2 hypothetical gene supported by NM_030930; AY007125 OR7E4P 11p15 olfactory receptor, family 7, subfamily E, member 4 pseudogene FLJ10661 11q13.3 hypothetical protein FLJ10661 LOC283202 11q13.3 hypothetical LOC283202 OR7E10P 8p22 olfactory receptor, family 7, subfamily E, member 10 pseudogene RNF121 11q13.3 ring finger protein 121 IL18BP 11q13 interleukin 18 binding protein NUMA1 11q13.3-q13.5 nuclear mitotic apparatus protein 1 LOC220074 11q13.3 Hypothetical 55.1 kDa protein F09G8.5 in chromosome III FLJ20625 11q13.3 hypothetical protein FLJ20625 LOC390220 11 similar to Catechol-O-methyltransferase DKFZP564M082 11q13.3 DKFZP564M082 protein FOLR3 11q13 folate receptor 3 (gamma) LOC390221 11 similar to folate receptor 1 precursor LOC390222 11 hypothetical gene supported by U08471; Z32564; NM_000804 FOLR1 11q13.3-q13.5 folate receptor 1 (adult)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 2679 - 706 - 2003 12547821
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   moderately Homo sapiens
Digestiveintestinesmall intestine  highly Homo sapiens
 liver   highly Homo sapiens
Lymphoid/Immunethymus   predominantly
Reproductivemale systemtestis  highly Homo sapiens
Urinarykidneytubule  highly Homo sapiens
Visualeyeanterior segment  lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal moderately Homo sapiens
cell lineage
cell lines glioma and promyelocytic leukemia
fluid/secretion blood
at STAGE
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