• Gene id: 349565

Gene Summary

• Gene Symbol: NMNAT3   Gene   UCSC   Ensembl
• Aliases: FKSG76, PNAT-3, PNAT3
• Gene name: nicotinamide nucleotide adenylyltransferase 3
• Alternate names: nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3, NMN adenylyltransferase 3, NMN/NaMN adenylyltransferase 3, NaMN adenylyltransferase 3, nicotinamide mononucleotide adenylyltransferase 3, nicotinate-nucleotide adenylyltransferase 3, pyridine nuc,
• Gene location: 3q23 (131026850: 131350464)     Exons: 31     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucl
• OMIM: 608702

Protein Summary

• Protein general information: Q96T66  
  • Name: Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 (NMN/NaMN adenylyltransferase 3) (Nicotinamide nucleotide adenylyltransferase 3) (NMN adenylyltransferase 3) (Nicotinate nucleotide adenylyltransferase 3) (NaMN adenylyltransferase 3) (EC 2.
  • Length: 252  
  • Mass: 28322
  • Tissue specificity: Expressed in lung and spleen with lower levels in placenta and kidney. {ECO
• Sequence:

  MKSRIPVVLLACGSFNPITNMHLRMFEVARDHLHQTGMYQVIQGIISPVNDTYGKKDLAASHHRVAMARLALQTS
  DWIRVDPWESEQAQWMETVKVLRHHHSKLLRSPPQMEGPDHGKALFSTPAAVPELKLLCGADVLKTFQTPNLWKD
  AHIQEIVEKFGLVCVGRVGHDPKGYIAESPILRMHQHNIHLAKEPVQNEISATYIRRALGQGQSVKYLIPDAVIT
  YIKDHGLYTKGSTWKGKSTQSTEGKTS

• Structural information:
  • Interpro: IPR004821  IPR005248  IPR014729  
  • PDB: 1NUP 1NUQ 1NUR 1NUS 1NUT 1NUU
  • PDBsum: 1NUP 1NUQ 1NUR 1NUS 1NUT 1NUU
  • STRING: ENSP00000340523
• Other Databases: GeneCards:  NMNAT3  Malacards:  NMNAT3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000309	nicotinamide-nucleotide adenylyltransferase activity	IBA	molecular function
GO:0004515	nicotinate-nucleotide adenylyltransferase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0009435	NAD biosynthetic process	IBA	biological process
GO:0009058	biosynthetic process	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0009435	NAD biosynthetic process	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0019363	pyridine nucleotide biosynthetic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000309	nicotinamide-nucleotide adenylyltransferase activity	IEA	molecular function
GO:0004515	nicotinate-nucleotide adenylyltransferase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0019674	NAD metabolic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0009435	NAD biosynthetic process	IEA	biological process
GO:0004515	nicotinate-nucleotide adenylyltransferase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0009165	nucleotide biosynthetic process	IC	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray