Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55191
Gene name	NAD synthetase 1
Gene symbol	NADSYN1
Synonyms (NCBI Gene)	VCRL3
Chromosome	11
Chromosome location	11q13.4
Summary	Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the

Show/Hide all (82)

miRTarBase ID	miRNA	Experiments	Reference
MIRT647702	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT647700	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT647699	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT647698	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT647697	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT647696	hsa-miR-4320	HITS-CLIP	23824327
MIRT647695	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT647694	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT647693	hsa-miR-33a-5p	HITS-CLIP	23824327
MIRT647692	hsa-miR-33b-5p	HITS-CLIP	23824327
MIRT647691	hsa-miR-4503	HITS-CLIP	23824327
MIRT647690	hsa-miR-5004-3p	HITS-CLIP	23824327
MIRT647689	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT647702	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT647700	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT647699	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT647698	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT647697	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT647696	hsa-miR-4320	HITS-CLIP	23824327
MIRT647695	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT647694	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT647693	hsa-miR-33a-5p	HITS-CLIP	23824327
MIRT647692	hsa-miR-33b-5p	HITS-CLIP	23824327
MIRT647691	hsa-miR-4503	HITS-CLIP	23824327
MIRT647690	hsa-miR-5004-3p	HITS-CLIP	23824327
MIRT647689	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT1172974	hsa-miR-338-3p	CLIP-seq
MIRT1172975	hsa-miR-3908	CLIP-seq
MIRT1172976	hsa-miR-4530	CLIP-seq
MIRT1172977	hsa-miR-4728-3p	CLIP-seq
MIRT1172978	hsa-miR-766	CLIP-seq
MIRT2050115	hsa-miR-1272	CLIP-seq
MIRT2050116	hsa-miR-3682-3p	CLIP-seq
MIRT2050117	hsa-miR-4731-5p	CLIP-seq
MIRT2050118	hsa-miR-615-5p	CLIP-seq
MIRT2577195	hsa-miR-1307	CLIP-seq
MIRT2577196	hsa-miR-1343	CLIP-seq
MIRT2577197	hsa-miR-1470	CLIP-seq
MIRT2577198	hsa-miR-3158-3p	CLIP-seq
MIRT2577199	hsa-miR-3195	CLIP-seq
MIRT1172974	hsa-miR-338-3p	CLIP-seq
MIRT2577200	hsa-miR-3615	CLIP-seq
MIRT2577201	hsa-miR-378g	CLIP-seq
MIRT1172975	hsa-miR-3908	CLIP-seq
MIRT2577202	hsa-miR-4280	CLIP-seq
MIRT2577203	hsa-miR-4437	CLIP-seq
MIRT2577204	hsa-miR-4446-3p	CLIP-seq
MIRT2577205	hsa-miR-4469	CLIP-seq
MIRT1172976	hsa-miR-4530	CLIP-seq
MIRT2577206	hsa-miR-4638-5p	CLIP-seq
MIRT2577207	hsa-miR-4667-3p	CLIP-seq
MIRT2577208	hsa-miR-4674	CLIP-seq
MIRT1172977	hsa-miR-4728-3p	CLIP-seq
MIRT2577209	hsa-miR-4787-3p	CLIP-seq
MIRT2577210	hsa-miR-4793-5p	CLIP-seq
MIRT2577211	hsa-miR-642a	CLIP-seq
MIRT1172978	hsa-miR-766	CLIP-seq
MIRT2050115	hsa-miR-1272	CLIP-seq
MIRT2577195	hsa-miR-1307	CLIP-seq
MIRT2577196	hsa-miR-1343	CLIP-seq
MIRT2577197	hsa-miR-1470	CLIP-seq
MIRT2577198	hsa-miR-3158-3p	CLIP-seq
MIRT2577199	hsa-miR-3195	CLIP-seq
MIRT1172974	hsa-miR-338-3p	CLIP-seq
MIRT2577200	hsa-miR-3615	CLIP-seq
MIRT2050116	hsa-miR-3682-3p	CLIP-seq
MIRT2577201	hsa-miR-378g	CLIP-seq
MIRT1172975	hsa-miR-3908	CLIP-seq
MIRT2577202	hsa-miR-4280	CLIP-seq
MIRT2577203	hsa-miR-4437	CLIP-seq
MIRT2577204	hsa-miR-4446-3p	CLIP-seq
MIRT2577205	hsa-miR-4469	CLIP-seq
MIRT2685737	hsa-miR-4502	CLIP-seq
MIRT1172976	hsa-miR-4530	CLIP-seq
MIRT2577206	hsa-miR-4638-5p	CLIP-seq
MIRT2577207	hsa-miR-4667-3p	CLIP-seq
MIRT2577208	hsa-miR-4674	CLIP-seq
MIRT1172977	hsa-miR-4728-3p	CLIP-seq
MIRT2577209	hsa-miR-4787-3p	CLIP-seq
MIRT2577210	hsa-miR-4793-5p	CLIP-seq
MIRT2577211	hsa-miR-642a	CLIP-seq
MIRT1172978	hsa-miR-766	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003952	Function	NAD+ synthase (glutamine-hydrolyzing) activity	IBA
GO:0003952	Function	NAD+ synthase (glutamine-hydrolyzing) activity	IEA
GO:0003952	Function	NAD+ synthase (glutamine-hydrolyzing) activity	IMP	31883644
GO:0004359	Function	Glutaminase activity	IBA
GO:0004359	Function	Glutaminase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0009435	Process	NAD+ biosynthetic process	IBA
GO:0009435	Process	NAD+ biosynthetic process	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0034354	Process	'de novo' NAD+ biosynthetic process from L-tryptophan	IEA
GO:0034354	Process	'de novo' NAD+ biosynthetic process from L-tryptophan	IMP	31883644
GO:0034355	Process	NAD+ biosynthetic process via the salvage pathway	IEA

MIM	HGNC	e!Ensembl
608285	29832	ENSG00000172890

Q6IA69

Protein name

Glutamine-dependent NAD(+) synthetase (EC 6.3.5.1) (NAD(+) synthase [glutamine-hydrolyzing]) (NAD(+) synthetase)

Protein function

Catalyzes the final step of the nicotinamide adenine dinucleotide (NAD) de novo synthesis pathway, the ATP-dependent amidation of deamido-NAD using L-glutamine as a nitrogen source.

PDB

6OFB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00795	CN_hydrolase	6 → 283	Carbon-nitrogen hydrolase	Family
PF02540	NAD_synthase	337 → 651	NAD synthase	Domain

Sequence

MGRKVTVATCALNQWALDFEGNLQRILKSIEIAKNRGARYRLGPELEICGYGCWDHYYES
DTLLHSFQVLAALVESPVTQDIICDVGMPVMHRNVRYNCRVIFLNRKILLIRPKMALANE
GNYRELRWFTPWSRSRHTEEYFLPRMIQDLTKQETVPFGDAVLVTWDTCIGSEICEELWT
PHSPHIDMGLDGVEIITNASGSHQVLRKANTRVDLVTMVTSKNGGIYLLANQKGCDGDRL
YYDGCAMIAMNGSVFAQGSQFSLDDVEVLTATLDLEDVRSYRAEISSRNLAASRASPYPR
VKVDFALSCHEDLLAPISEPIEWKYHSPEEEISLGPACWLWDFLRRSQQAGFLLPLSGGV
DSAATACLIYSMCCQVCEAVRSGNEEVLADVRTIVNQISYTPQDPRDLCGRILTTCYMAS
KNSSQETCTRARELAQQIGSHHISLNIDPAVKAVMGIFSLVTGKSPLFAAHGGSSRENLA
LQNVQARIRMVLAYLFAQLSLWSRGVHGGLLVLGSANVDESLLGYLTKYDCSSADINPIG
GISKTDLRAFVQFCIQRFQLPALQSILLAPATAELEPLADGQVSQTDEEDMGMTYAELSV
YGKLRKVAKMGPYSMFCKLLGMWRHICTPRQVADKVKRFFSKYSMNRHKMTTLTPAYHAE
NYSPEDNRFDLRPFLYNTSWPWQFRCIENQVLQLERAEPQSLDGVD

Sequence length

706

Interactions

View interactions

	KEGG		Reactome
	Nicotinate and nicotinamide metabolism Metabolic pathways Biosynthesis of cofactors		Nicotinate metabolism

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital NAD deficiency disorder	Likely pathogenic; Pathogenic	rs144139747, rs1327307171, rs1949650831, rs1008561025, rs769220327	RCV001078184 RCV001078185 RCV001078189 RCV001078188 RCV001078186
NADSYN1-related disorder	Likely pathogenic; Pathogenic	rs144139747	RCV003963002
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs144139747	RCV002274118
Vertebral, cardiac, renal, and limb defects syndrome 3	Likely pathogenic; Pathogenic	rs764123669, rs746448347, rs144139747, rs1327307171, rs1949650831, rs1008561025, rs769220327, rs368115694	RCV002273165 RCV003759816 RCV001035449 RCV001035450 RCV001035452 RCV001035454 RCV003758992 RCV001293858

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Vertebral, cardiac, renal, and limb defects syndrome 1	Uncertain significance	rs1178802020	RCV003152663

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma Islet Cell	Associate	23979957
Arthritis Rheumatoid	Associate	23636220, 30796319, 35720397
Astrocytoma	Associate	22740028
Bone Diseases Metabolic	Associate	30150596
Carcinogenesis	Associate	36278823
Carcinoma Hepatocellular	Associate	23734184
Colorectal Neoplasms	Associate	22701574, 31104167
COVID 19	Associate	34835935, 37497655
Diabetes Mellitus Type 1	Associate	32764491, 37170809
Fatty Liver	Associate	29761652
Hereditary leiomyomatosis and renal cell cancer	Associate	24890271
Hyperbilirubinemia Neonatal	Associate	37259065
Inflammation	Associate	29761652
Inflammatory Bowel Diseases	Associate	37834314
Leber Congenital Amaurosis	Associate	22842230
Leukemia Biphenotypic Acute	Associate	36439178
Liver Cirrhosis	Associate	28415985
Lupus Erythematosus Systemic	Associate	28062664
Nasopharyngeal Carcinoma	Associate	34464857
Neoplasm Metastasis	Associate	26959888
Neoplasms	Associate	26959888
Non alcoholic Fatty Liver Disease	Associate	29761652
Osteoporosis	Associate	30150596
Ovarian Neoplasms	Associate	27594614
Post Acute COVID 19 Syndrome	Associate	37497655
Rickets	Associate	24073854
Thyroid Neoplasms	Associate	31357732
Vitamin D Deficiency	Associate	22701574, 22785457, 26149120, 32231377, 34852423, 37259065, 37834314
Weight Loss	Associate	26416604

NADSYN1 (NAD synthetase 1)