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    NAPRT nicotinate phosphoribosyltransferase [ Homo sapiens (human) ]

    Gene ID: 93100, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See NAPRT in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143572874..143578330, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144723979..144727726, complement)
    RS_2024_09 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. 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
    2. 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
    3. Expression patterns of nicotinamide phosphoribosyltransferase and nicotinic acid phosphoribosyltransferase in human malignant lymphomas. Olesen UH, et al. APMIS, 2011 Apr. PMID 21492230
    4. Loss of NAPRT1 expression by tumor-specific promoter methylation provides a novel predictive biomarker for NAMPT inhibitors. Shames DS, et al. Clin Cancer Res, 2013 Dec 15. PMID 24097869
    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 (38) 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)

    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

      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

      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_2024_08

    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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