• Gene id: 64802

Gene Summary

• Gene Symbol: NMNAT1   Gene   UCSC   Ensembl
• Aliases: LCA9, NMNAT, PNAT1
• Gene name: nicotinamide nucleotide adenylyltransferase 1
• Alternate names: nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1, NMN adenylyltransferase 1, NMN/NaMN adenylyltransferase 1, NaMN adenylyltransferase 1, nicotinamide mononucleotide adenylyltransferase 1, nicotinate-nucleotide adenylyltransferase 1, pyridine nuc,
• Gene location: 1p36.22 (9942922: 9996883)     Exons: 9     NC_000001.11
• Gene summary(Entrez): This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Ac
• OMIM: 608700

Protein Summary

• Protein general information: Q9HAN9  
  • Name: Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 (NMN/NaMN adenylyltransferase 1) (EC 2.7.7.1) (EC 2.7.7.18) (Nicotinamide nucleotide adenylyltransferase 1) (NMN adenylyltransferase 1) (Nicotinate nucleotide adenylyltransferase 1) (NaMN ad
  • Length: 279  
  • Mass: 31932
  • Tissue specificity: Widely expressed with highest levels in skeletal muscle, heart and kidney. Also expressed in the liver pancreas and placenta. Widely expressed throughout the brain. {ECO
• Sequence:

  MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATK
  NSKWVEVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPK
  VKLLCGADLLESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTK
  IRRALRRGQSIRYLVPDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT

• Structural information:
  • Interpro: IPR004821  IPR005248  
  • PDB: 1GZU 1KKU 1KQN 1KQO 1KR2
  • PDBsum: 1GZU 1KKU 1KQN 1KQO 1KR2
  • DIP: 60881
  • STRING: ENSP00000366410
• Other Databases: GeneCards:  NMNAT1  Malacards:  NMNAT1

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:0009435	NAD biosynthetic process	IBA	biological process
GO:1990966	ATP generation from poly-ADP-D-ribose	IDA	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:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0019363	pyridine nucleotide biosynthetic process	IEA	biological process
GO:0004515	nicotinate-nucleotide adenylyltransferase activity	IEA	molecular function
GO:0000309	nicotinamide-nucleotide adenylyltransferase activity	IEA	molecular function
GO:0005654	nucleoplasm	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: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:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0009435	NAD biosynthetic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0004515	nicotinate-nucleotide adenylyltransferase activity	IEA	molecular function
GO:0000309	nicotinamide-nucleotide adenylyltransferase activity	IEA	molecular function
GO:1902511	negative regulation of apoptotic DNA fragmentation	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:0009611	response to wounding	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0009435	NAD biosynthetic process	IEA	biological process
GO:0009165	nucleotide biosynthetic process	IC	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000309	nicotinamide-nucleotide adenylyltransferase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0004515	nicotinate-nucleotide adenylyltransferase activity	IDA	molecular function
GO:0005634	nucleus	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Leber congenital amaurosis	KEGG:H00837
Leber congenital amaurosis	KEGG:H00837
Teratozoospermia	MIK: 17327269

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)