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NAPRT nicotinate phosphoribosyltransferase [ Homo sapiens (human) ]

Gene ID: 93100, updated on 5-Mar-2024

Summary

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Official Symbol
NAPRTprovided by HGNC
Official Full Name
nicotinate phosphoribosyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:30450
See related
Ensembl:ENSG00000147813 MIM:611552; AllianceGenome:HGNC:30450
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NAPRT1; PP3856
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 serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in duodenum (RPKM 19.1), small intestine (RPKM 16.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
8q24.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143572874..143578330, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144723979..144727726, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144656955..144660500, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100310756 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144640331-144640972 Neighboring gene gasdermin D Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144653451-144654300 Neighboring gene maestro heat like repeat family member 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144659908-144660815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144660816-144661724 Neighboring gene eukaryotic translation elongation factor 1 delta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144671257-144671758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144671759-144672258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144678233-144678832 Neighboring gene tigger transposable element derived 5 Neighboring gene pyrroline-5-carboxylate reductase 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. NAPRT Expression Regulation Mechanisms: Novel Functions Predicted by a Bioinformatics Approach. Duarte-Pereira S, et al. Genes (Basel), 2021 Dec 20. PMID 34946971, Free PMC Article
  2. Characterization of human nicotinate phosphoribosyltransferase: Kinetic studies, structure prediction and functional analysis by site-directed mutagenesis. Galassi L, et al. Biochimie, 2012 Feb. PMID 21742010
  3. Extracellular nicotinate phosphoribosyltransferase binds Toll like receptor 4 and mediates inflammation. Managò A, et al. Nat Commun, 2019 Sep 11. PMID 31511522, Free PMC Article
  4. PPM1D mutations silence NAPRT gene expression and confer NAMPT inhibitor sensitivity in glioma. Fons NR, et al. Nat Commun, 2019 Aug 22. PMID 31439867, Free PMC Article
  5. Extensive regulation of nicotinate phosphoribosyltransferase (NAPRT) expression in human tissues and tumors. Duarte-Pereira S, et al. Oncotarget, 2016 Jan 12. PMID 26675378, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NAPRT, but Not NAMPT, Provides Additional Support for NAD Synthesis in Esophageal Precancerous Lesions.
    Title: NAPRT, but Not NAMPT, Provides Additional Support for NAD Synthesis in Esophageal Precancerous Lesions.
  2. NAPRT Expression Regulation Mechanisms: Novel Functions Predicted by a Bioinformatics Approach.
    Title: NAPRT Expression Regulation Mechanisms: Novel Functions Predicted by a Bioinformatics Approach.
  3. Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.
    Title: Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.
  4. Study demonstrated that PPM1D mutant astrocytes and patient-derived PPM1D mutant diffuse intrinsic pontine glioma lines are particularly sensitive to treatment with NAMPT inhibitors. Mutant PPM1D-induced NAMPT inhibitor sensitivity is driven by hypermethylation of CpG islands throughout the genome and the epigenetic silencing of NAPRT, a key gene involved in NAD biosynthesis.
    Title: PPM1D mutations silence NAPRT gene expression and confer NAMPT inhibitor sensitivity in glioma.
  5. these data identify NAPRT as a endogenous ligand for TLR4 and a mediator of inflammation.
    Title: Extracellular nicotinate phosphoribosyltransferase binds Toll like receptor 4 and mediates inflammation.
  6. No correlation between IDH1/2 mutation status and sensitivity for NAMPT inhibitors was observed. Strikingly, higher methylation of the NAPRT promoter was observed in high-grade versus low-grade chondrosarcomas. In conclusion, this study identified NAMPT as a potential target for treatment of chondrosarcoma
    Title: NAD Synthesis Pathway Interference Is a Viable Therapeutic Strategy for Chondrosarcoma.
  7. Synthesis and Degradation of Adenosine 5'-Tetraphosphate by Nicotinamide and Nicotinate Phosphoribosyltransferases
    Title: Synthesis and Degradation of Adenosine 5'-Tetraphosphate by Nicotinamide and Nicotinate Phosphoribosyltransferases.
  8. High NAPRTase expression is associated with neoplasms.
    Title: Extensive regulation of nicotinate phosphoribosyltransferase (NAPRT) expression in human tissues and tumors.
  9. Tumor-specific promoter hypermethylation of NAPRT1 inactivates one of two NAD salvage pathways, resulting in synthetic lethality with the coadministration of a NAMPT inhibitor.
    Title: Loss of NAPRT1 expression by tumor-specific promoter methylation provides a novel predictive biomarker for NAMPT inhibitors.
  10. Inhibition of nicotinamide phosphoribosyltransferase (NAMPT) activity by small molecule GMX1778 regulates reactive oxygen species (ROS)-mediated cytotoxicity in a p53- and nicotinic acid phosphoribosyltransferase1 (NAPRT1)-dependent manner
    Title: Inhibition of nicotinamide phosphoribosyltransferase (NAMPT) activity by small molecule GMX1778 regulates reactive oxygen species (ROS)-mediated cytotoxicity in a p53- and nicotinic acid phosphoribosyltransferase1 (NAPRT1)-dependent manner.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nicotinate phosphoribosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nicotinate phosphoribosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in NAD salvage IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
nicotinate phosphoribosyltransferase
Names
FHA-HIT-interacting protein
NAPRTase
nicotinate phosphoribosyltransferase domain containing 1
nicotinate phosphoribosyltransferase domain-containing protein 1
nicotinic acid phosphoribosyltransferase
NP_001273758.1
NP_001350074.1
NP_001350075.1
NP_660202.3
XP_047278379.1
XP_054184752.1
XP_054217488.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001286829.2 → NP_001273758.1  nicotinate phosphoribosyltransferase isoform 2

    See identical proteins and their annotated locations for NP_001273758.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB242230, AC067930, AY214327
    Consensus CDS
    CCDS69555.1
    UniProtKB/TrEMBL
    C9J8U2
    Related
    ENSP00000390949.3, ENST00000426292.7
    Conserved Domains (2) summary
    PLN02885
    Location:15 → 512
    PLN02885; nicotinate phosphoribosyltransferase
    cd01570
    Location:15 → 398
    NAPRTase_A; Nicotinate phosphoribosyltransferase (NAPRTase), subgroup A. Nicotinate phosphoribosyltransferase catalyses the formation of NAMN and PPi from 5-phosphoribosy -1-pyrophosphate (PRPP) and nicotinic acid, this is the first, and also rate limiting, reaction ...

  2. NM_001363145.1 → NP_001350074.1  nicotinate phosphoribosyltransferase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AB242230, AC067930, BC006284, CN260784
    UniProtKB/TrEMBL
    C9J8U2
    Conserved Domains (1) summary
    cl28369
    Location:15 → 498
    PncB; Nicotinic acid phosphoribosyltransferase [Coenzyme transport and metabolism]

  3. NM_001363146.1 → NP_001350075.1  nicotinate phosphoribosyltransferase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AB242230, AC067930, BC006284, CN260784, HY010368
    Conserved Domains (1) summary
    cl28369
    Location:37 → 297
    PncB; Nicotinic acid phosphoribosyltransferase [Coenzyme transport and metabolism]

  4. NM_145201.6 → NP_660202.3  nicotinate phosphoribosyltransferase isoform 1

    See identical proteins and their annotated locations for NP_660202.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB242230, AC067930, BC006284, CN260784
    Consensus CDS
    CCDS6403.2
    UniProtKB/Swiss-Prot
    A7BFI3, Q6PJL1, Q6XQN4, Q6XQN5, Q6XQN6, Q8N5E8, Q9BRG0
    UniProtKB/TrEMBL
    C9J8U2
    Related
    ENSP00000401508.2, ENST00000449291.7
    Conserved Domains (1) summary
    cl21457
    Location:15 → 525
    TIM; TIM-like beta/alpha barrel domains

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    143572874..143578330 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422423.1 → XP_047278379.1  nicotinate phosphoribosyltransferase isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187571.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    64623..68370 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328777.1 → XP_054184752.1  nicotinate phosphoribosyltransferase isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    144723979..144727726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361513.1 → XP_054217488.1  nicotinate phosphoribosyltransferase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6XQN6.2 GenPept UniProtKB/Swiss-Prot:Q6XQN6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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