• Gene id: 93100

Gene Summary

• Gene Symbol: NAPRT   Gene   UCSC   Ensembl
• Aliases: NAPRT1, PP3856
• Gene name: nicotinate phosphoribosyltransferase
• Alternate names: nicotinate phosphoribosyltransferase, FHA-HIT-interacting protein, NAPRTase, nicotinate phosphoribosyltransferase domain containing 1, nicotinate phosphoribosyltransferase domain-containing protein 1, nicotinic acid phosphoribosyltransferase,
• Gene location: 8q24.3 (143578348: 143574584)     Exons: 12     NC_000008.11
• Gene summary(Entrez): Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which
• OMIM: 611552

Protein Summary

• Protein general information: Q6XQN6  
  • Name: Nicotinate phosphoribosyltransferase (NAPRTase) (EC 6.3.4.21) (FHA HIT interacting protein) (Nicotinate phosphoribosyltransferase domain containing protein 1)
  • Length: 538  
  • Mass: 57578
• Sequence:

  MAAEQDPEARAAARPLLTDLYQATMALGYWRAGRARDAAEFELFFRRCPFGGAFALAAGLRDCVRFLRAFRLRDA
  DVQFLASVLPPDTDPAFFEHLRALDCSEVTVRALPEGSLAFPGVPLLQVSGPLLVVQLLETPLLCLVSYASLVAT
  NAARLRLIAGPEKRLLEMGLRRAQGPDGGLTASTYSYLGGFDSSSNVLAGQLRGVPVAGTLAHSFVTSFSGSEVP
  PDPMLAPAAGEGPGVDLAAKAQVWLEQVCAHLGLGVQEPHPGERAAFVAYALAFPRAFQGLLDTYSVWRSGLPNF
  LAVALALGELGYRAVGVRLDSGDLLQQAQEIRKVFRAAAAQFQVPWLESVLIVVSNNIDEEALARLAQEGSEVNV
  IGIGTSVVTCPQQPSLGGVYKLVAVGGQPRMKLTEDPEKQTLPGSKAAFRLLGSDGSPLMDMLQLAEEPVPQAGQ
  ELRVWPPGAQEPCTVRPAQVEPLLRLCLQQGQLCEPLPSLAESRALAQLSLSRLSPEHRRLRSPAQYQVVLSERL
  QALVNSLCAGQSP

• Structural information:
  • Interpro: IPR013785  IPR041619  IPR040727  IPR007229  IPR006405   IPR036068  
  • PDB: 4YUB
  • PDBsum: 4YUB
  • STRING: ENSP00000401508
• Other Databases: GeneCards:  NAPRT  Malacards:  NAPRT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004516	nicotinate phosphoribosyltransferase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0034355	NAD salvage	IBA	biological process
GO:0009435	NAD biosynthetic process	IBA	biological process
GO:0004516	nicotinate phosphoribosyltransferase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004514	nicotinate-nucleotide diphosphorylase (carboxylating) activity	IEA	molecular function
GO:0009435	NAD biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0019363	pyridine nucleotide biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004516	nicotinate phosphoribosyltransferase activity	IEA	molecular function
GO:0034356	NAD biosynthesis via nicotinamide riboside salvage pathway	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0009435	NAD biosynthetic process	IEA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0004516	nicotinate phosphoribosyltransferase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006979	response to oxidative stress	IMP	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq