NAPRT (nicotinate phosphoribosyltransferase)

Gene

• Entrez ID: 93100
• Gene name: Nicotinate phosphoribosyltransferase
• Gene symbol: NAPRT
• Synonyms (NCBI Gene): NAPRT1, PP3856
• Chromosome: 8
• Chromosome location: 8q24.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT440152	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440152	hsa-miR-218-5p	HITS-CLIP	23212916

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004516	Function	Nicotinate phosphoribosyltransferase activity	IBA
GO:0004516	Function	Nicotinate phosphoribosyltransferase activity	IDA	17604275
GO:0004516	Function	Nicotinate phosphoribosyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	17604275
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006979	Process	Response to oxidative stress	IMP	17604275
GO:0009435	Process	NAD+ biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0019363	Process	Pyridine nucleotide biosynthetic process	IEA
GO:0034355	Process	NAD+ biosynthetic process via the salvage pathway	IBA
GO:0034355	Process	NAD+ biosynthetic process via the salvage pathway	IMP	17604275
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 611552
• HGNC: 30450
• e!Ensembl: ENSG00000147813

Protein

• UniProt ID: Q6XQN6
• Protein name: Nicotinate phosphoribosyltransferase (NAPRTase) (EC 6.3.4.21) (FHA-HIT-interacting protein) (Nicotinate phosphoribosyltransferase domain-containing protein 1)
• Protein function: Catalyzes the first step in the biosynthesis of NAD from nicotinic acid, the ATP-dependent synthesis of beta-nicotinate D-ribonucleotide from nicotinate and 5-phospho-D-ribose 1-phosphate (PubMed:17604275, PubMed:21742010, PubMed:26042198). Help
• PDB: 4YUB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17767	NAPRTase_N	16 → 143	Nicotinate phosphoribosyltransferase (NAPRTase) N-terminal domain	Domain
  PF17956	NAPRTase_C	420 → 529	Nicotinate phosphoribosyltransferase C-terminal domain	Domain

• Sequence:

  MAAEQDPEARAAARPLLTDLYQATMALGYWRAGRARDAAEFELFFRRCPFGGAFALAAGL
  RDCVRFLRAFRLRDADVQFLASVLPPDTDPAFFEHLRALDCSEVTVRALPEGSLAFPGVP
  LLQVSGPLLVVQLLETPLLCLVSYASLVATNAARLRLIAGPEKRLLEMGLRRAQGPDGGL
  TASTYSYLGGFDSSSNVLAGQLRGVPVAGTLAHSFVTSFSGSEVPPDPMLAPAAGEGPGV
  DLAAKAQVWLEQVCAHLGLGVQEPHPGERAAFVAYALAFPRAFQGLLDTYSVWRSGLPNF
  LAVALALGELGYRAVGVRLDSGDLLQQAQEIRKVFRAAAAQFQVPWLESVLIVVSNNIDE
  EALARLAQEGSEVNVIGIGTSVVTCPQQPSLGGVYKLVAVGGQPRMKLTEDPEKQTLPGS
  KAAFRLLGSDGSPLMDMLQLAEEPVPQAGQELRVWPPGAQEPCTVRPAQVEPLLRLCLQQ
  GQLCEPLPSLAESRALAQLSLSRLSPEHRRLRSPAQYQVVLSERLQALVNSLCAGQSP

• Sequence length: 538

Pathways

KEGG:

Nicotinate and nicotinamide metabolism
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Nicotinamide salvaging
Neutrophil degranulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Arsenic Poisoning	Associate	36436256	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Associate	32098966	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Associate	28860121	★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Associate	22570471, 36864434	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Associate	36432602	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	22570471	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	32098966	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Associate	27821631	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Associate	32098966	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	22570471, 25201160, 26675378, 32098966, 34200964, 36864434	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Associate	22570471	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Associate	25201160	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	34200964	★☆☆☆☆ Found in Text Mining only
Precancerous Conditions	Associate	36432602	★☆☆☆☆ Found in Text Mining only
Sarcoma	Associate	22570471	★★☆☆☆ Found in Text Mining + Unknown/Other Associations