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FLASH GENE

Symbol

NADSYN1

contributors: mct - updated : 22-01-2020

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018161 21 - 2679 NP_060631 - 706 - 2003 12547821

EXPRESSION

Type

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       moderately Homo sapiens Digestive intestine small intestine     highly Homo sapiens   liver       highly Homo sapiens Lymphoid/Immune thymus       predominantly Reproductive male system testis     highly Homo sapiens Urinary kidney tubule     highly Homo sapiens Visual eye anterior segment     lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   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