• Gene id: 55191

Gene Summary

• Gene Symbol: NADSYN1   Gene   UCSC   Ensembl
• Aliases: VCRL3
• Gene name: NAD synthetase 1
• Alternate names: glutamine-dependent NAD(+) synthetase, NAD(+) synthase, NAD(+) synthetase, glutamine-dependent NAD synthetase,
• Gene location: 11q13.4 (71453202: 71501815)     Exons: 21     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 608285

Protein Summary

• Protein general information: Q6IA69  
  • Name: Glutamine dependent NAD(+) synthetase (EC 6.3.5.1) (NAD(+) synthase [glutamine hydrolyzing]) (NAD(+) synthetase)
  • Length: 706  
  • Mass: 79285
• Sequence:

  MGRKVTVATCALNQWALDFEGNLQRILKSIEIAKNRGARYRLGPELEICGYGCWDHYYESDTLLHSFQVLAALVE
  SPVTQDIICDVGMPVMHRNVRYNCRVIFLNRKILLIRPKMALANEGNYRELRWFTPWSRSRHTEEYFLPRMIQDL
  TKQETVPFGDAVLVTWDTCIGSEICEELWTPHSPHIDMGLDGVEIITNASGSHQVLRKANTRVDLVTMVTSKNGG
  IYLLANQKGCDGDRLYYDGCAMIAMNGSVFAQGSQFSLDDVEVLTATLDLEDVRSYRAEISSRNLAASRASPYPR
  VKVDFALSCHEDLLAPISEPIEWKYHSPEEEISLGPACWLWDFLRRSQQAGFLLPLSGGVDSAATACLIYSMCCQ
  VCEAVRSGNEEVLADVRTIVNQISYTPQDPRDLCGRILTTCYMASKNSSQETCTRARELAQQIGSHHISLNIDPA
  VKAVMGIFSLVTGKSPLFAAHGGSSRENLALQNVQARIRMVLAYLFAQLSLWSRGVHGGLLVLGSANVDESLLGY
  LTKYDCSSADINPIGGISKTDLRAFVQFCIQRFQLPALQSILLAPATAELEPLADGQVSQTDEEDMGMTYAELSV
  YGKLRKVAKMGPYSMFCKLLGMWRHICTPRQVADKVKRFFSKYSMNRHKMTTLTPAYHAENYSPEDNRFDLRPFL
  YNTSWPWQFRCIENQVLQLERAEPQSLDGVD

• Structural information:
  • Protein Domains: (5..27-)
    (/note="CN-hydrolase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00054"-)
  • Interpro: IPR003010  IPR036526  IPR014445  IPR022310  IPR003694   IPR014729  
  • Prosite: PS50263
  • CDD: cd00553
  • PDB: 6OFB
  • PDBsum: 6OFB
  • STRING: ENSP00000326424
• Other Databases: GeneCards:  NADSYN1  Malacards:  NADSYN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009435	NAD biosynthetic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004359	glutaminase activity	IBA	molecular function
GO:0003952	NAD+ synthase (glutamine-hydrolyzing) activity	IBA	molecular function
GO:0006807	nitrogen compound metabolic process	IEA	biological process
GO:0003952	NAD+ synthase (glutamine-hydrolyzing) activity	IEA	molecular function
GO:0004359	glutaminase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0009435	NAD biosynthetic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003952	NAD+ synthase (glutamine-hydrolyzing) activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0019674	NAD metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009435	NAD biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00760	Nicotinate and nicotinamide metabolism

Diseases

Associated diseases	References
Malignant glioma	PMID:22740028
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq