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 metabol... See more...

Aliases for NAPRT Gene

Aliases for NAPRT Gene

  • Nicotinate Phosphoribosyltransferase 2 3 4 5
  • Nicotinate Phosphoribosyltransferase Domain-Containing Protein 1 3 4
  • Nicotinate Phosphoribosyltransferase Domain Containing 1 2 3
  • FHA-HIT-Interacting Protein 3 4
  • NAPRTase 3 4
  • NAPRT1 3 4
  • Nicotinic Acid Phosphoribosyltransferase 3
  • EC 2.4.2.11 54
  • EC 6.3.4.21 4
  • PP3856 3
  • FHIP 4

External Ids for NAPRT Gene

Previous HGNC Symbols for NAPRT Gene

  • NAPRT1

Summaries for NAPRT Gene

Entrez Gene Summary for NAPRT Gene

  • 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]

CIViC Summary for NAPRT Gene

GeneCards Summary for NAPRT Gene

NAPRT (Nicotinate Phosphoribosyltransferase) is a Protein Coding gene. Diseases associated with NAPRT include Pellagra. Among its related pathways are Innate Immune System and Metabolism. Gene Ontology (GO) annotations related to this gene include ligase activity and nicotinate phosphoribosyltransferase activity. An important paralog of this gene is NAMPT.

UniProtKB/Swiss-Prot Summary for NAPRT Gene

  • 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). Helps prevent cellular oxidative stress via its role in NAD biosynthesis (PubMed:17604275).

Additional gene information for NAPRT Gene

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NAPRT Gene

Genomics for NAPRT Gene

GeneHancer (GH) Regulatory Elements for NAPRT Gene

Promoters and enhancers for NAPRT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NAPRT on UCSC Golden Path with GeneCards custom track

Genomic Locations for NAPRT Gene

Genomic Locations for NAPRT Gene
chr8:143,574,664-143,579,626
(GRCh38/hg38)
Size:
4,963 bases
Orientation:
Minus strand
chr8:144,656,955-144,660,819
(GRCh37/hg19)
Size:
3,865 bases
Orientation:
Minus strand

Genomic View for NAPRT Gene

Genes around NAPRT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAPRT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAPRT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAPRT Gene

Proteins for NAPRT Gene

  • Protein details for NAPRT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6XQN6-PNCB_HUMAN
    Recommended name:
    Nicotinate phosphoribosyltransferase
    Protein Accession:
    Q6XQN6
    Secondary Accessions:
    • A7BFI3
    • Q6PJL1
    • Q6XQN4
    • Q6XQN5
    • Q8N5E8
    • Q9BRG0

    Protein attributes for NAPRT Gene

    Size:
    538 amino acids
    Molecular mass:
    57578 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH06284.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH32466.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NAPRT Gene

    Alternative splice isoforms for NAPRT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAPRT Gene

Selected DME Specific Peptides for NAPRT Gene

Q6XQN6:
  • AVGVRLDSGDLLQQA
  • GLRRAQGP
  • LQLAEEP

Post-translational modifications for NAPRT Gene

  • Transiently phosphorylated on a His residue during the reaction cycle. Phosphorylation strongly increases the affinity for substrates and increases the rate of nicotinate D-ribonucleotide production. Dephosphorylation regenerates the low-affinity form of the enzyme, leading to product release.
  • Ubiquitination at Lys396, Lys407, and Lys421
  • Modification sites at PhosphoSitePlus

Domains & Families for NAPRT Gene

Gene Families for NAPRT Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for NAPRT Gene

GenScript: Design optimal peptide antigens:
  • Nicotinate phosphoribosyltransferase domain-containing protein 1 (PNCB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6XQN6

UniProtKB/Swiss-Prot:

PNCB_HUMAN :
  • Belongs to the NAPRTase family.
Family:
  • Belongs to the NAPRTase family.
genes like me logo Genes that share domains with NAPRT: view

Function for NAPRT Gene

Molecular function for NAPRT Gene

UniProtKB/Swiss-Prot 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). Helps prevent cellular oxidative stress via its role in NAD biosynthesis (PubMed:17604275).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-phospho-alpha-D-ribose 1-diphosphate + ATP + H2O + nicotinate = ADP + diphosphate + nicotinate beta-D-ribonucleotide + phosphate; Xref=Rhea:RHEA:36163, ChEBI:CHEBI:15377, ChEBI:CHEBI:30616, ChEBI:CHEBI:32544, ChEBI:CHEBI:33019, ChEBI:CHEBI:43474, ChEBI:CHEBI:57502, ChEBI:CHEBI:58017, ChEBI:CHEBI:456216; EC=6.3.4.21; Evidence={ECO:0000269 PubMed:17604275, ECO:0000269 PubMed:21742010, ECO:0000269 PubMed:26042198};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=44.3 uM for nicotinic acid (in the presence of 3 mM ATP) {ECO:0000269 PubMed:21742010}; KM=22.1 uM for 5-phosphoribosyl-1-pyrophosphate (in the presence of 3 mM ATP) {ECO:0000269 PubMed:21742010}; KM=27.3 uM for nicotinic acid (in the presence of inorganic phosphate) {ECO:0000269 PubMed:21742010}; KM=38.2 uM for 5-phosphoribosyl-1-pyrophosphate (in the presence of inorganic phosphate) {ECO:0000269 PubMed:21742010};

Enzyme Numbers (IUBMB) for NAPRT Gene

Phenotypes From GWAS Catalog for NAPRT Gene

Gene Ontology (GO) - Molecular Function for NAPRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004514 nicotinate-nucleotide diphosphorylase (carboxylating) activity IEA --
GO:0004516 nicotinate phosphoribosyltransferase activity IBA,IDA 17604275
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with NAPRT: view
genes like me logo Genes that share phenotypes with NAPRT: view

Animal Model Products

CRISPR Products

miRNA for NAPRT Gene

miRTarBase miRNAs that target NAPRT

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAPRT

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NAPRT Gene

Localization for NAPRT Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAPRT Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAPRT gene
Compartment Confidence
cytosol 5
extracellular 4
lysosome 4
nucleus 3
golgi apparatus 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NAPRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0035578 azurophil granule lumen TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with NAPRT: view

Pathways & Interactions for NAPRT Gene

genes like me logo Genes that share pathways with NAPRT: view

Pathways by source for NAPRT Gene

UniProtKB/Swiss-Prot Q6XQN6-PNCB_HUMAN

  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; nicotinate D-ribonucleotide from nicotinate: step 1/1.

Gene Ontology (GO) - Biological Process for NAPRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress IMP 17604275
GO:0009435 NAD biosynthetic process IEA,IBA 21873635
GO:0019358 nicotinate nucleotide salvage IEA --
GO:0019363 pyridine nucleotide biosynthetic process IEA --
GO:0034355 NAD salvage IBA 21873635
genes like me logo Genes that share ontologies with NAPRT: view

No data available for SIGNOR curated interactions for NAPRT Gene

Drugs & Compounds for NAPRT Gene

(3) Drugs for NAPRT Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Niacin Approved, Investigational Nutra Unknown, Agonist, Full agonist 523,523
NAD Experimental Pharma Full agonist, Agonist, Activator 0
GNE-617 Pharma NAMPT inhibitor 0

(4) Additional Compounds for NAPRT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nicotinate beta-D-ribonucleotide
  • beta-Nicotinate D-ribonucleotide
  • Nicotinate ribonucleotide
  • Nicotinic acid ribonucleotide
  • b-Nicotinate D-ribonucleotide
  • b-Nicotinic acid D-ribonucleotide
Nicotinic acid mononucleotide
  • 3-Carboxy-1-(5-O-phosphono-b-D-ribofuranosyl)-pyridinium inner salt
  • 3-Carboxy-1-(5-O-phosphono-beta-D-ribofuranosyl)-pyridinium inner salt
  • 3-Carboxy-1-(5-O-phosphono-beta-delta-ribofuranosyl)-pyridinium inner salt
  • 3-Carboxy-1-beta-D-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt
  • 3-Carboxy-1-beta-delta-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt
321-02-8
Phosphoribosyl pyrophosphate
  • 5-phospho-alpha-D-Ribose 1-diphosphate
  • 5-Phosphoribosyl 1-pyrophosphate
  • 5-Phosphoribosyl diphosphate
  • alpha-D-Ribofuranose 5-(dihydrogen phosphate) 1-(trihydrogen diphosphate)
  • ALPHA-PHOSPHORIBOSYLPYROphosphORIC ACID
7540-64-9
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8

(1) ApexBio Compounds for NAPRT Gene

Compound Action Cas Number
GNE-617 NAMPT inhibitor 1362154-70-8
genes like me logo Genes that share compounds with NAPRT: view

Transcripts for NAPRT Gene

mRNA/cDNA for NAPRT Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAPRT

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NAPRT Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b
SP1: - - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6: - - - -
SP7: - - -
SP8: - - -
SP9: - - -
SP10:

Relevant External Links for NAPRT Gene

GeneLoc Exon Structure for
NAPRT
ECgene alternative splicing isoforms for
NAPRT

Expression for NAPRT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NAPRT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NAPRT Gene

This gene is overexpressed in Liver, secretome (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NAPRT Gene



Protein tissue co-expression partners for NAPRT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NAPRT Gene:

NAPRT

Evidence on tissue expression from TISSUES for NAPRT Gene

  • Liver(4.4)
  • Intestine(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with NAPRT: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAPRT Gene

Orthologs for NAPRT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NAPRT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAPRT1 33 32
  • 99.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NAPRT1 33 32
  • 86.96 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NAPRT1 33 32
  • 84.42 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Naprt1 33 32
  • 81.96 (n)
OneToOne
Naprt 17
rat
(Rattus norvegicus)
Mammalia Naprt1 32
  • 81.46 (n)
oppossum
(Monodelphis domestica)
Mammalia NAPRT1 33
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NAPRT1 33
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves NAPRT1 33
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 58 (a)
OneToMany
-- 33
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia naprt1 32
  • 65.44 (n)
zebrafish
(Danio rerio)
Actinopterygii naprt1 33 32
  • 58.62 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008516 32
  • 54.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3714 33 32
  • 53.45 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y54G2A.17 33 32
  • 50.06 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons NAPRT1 32
  • 49.3 (n)
rice
(Oryza sativa)
Liliopsida Os03g0837300 32
  • 52.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 41 (a)
OneToOne
Species where no ortholog for NAPRT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NAPRT Gene

ENSEMBL:
Gene Tree for NAPRT (if available)
TreeFam:
Gene Tree for NAPRT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NAPRT: view image

Paralogs for NAPRT Gene

Paralogs for NAPRT Gene

genes like me logo Genes that share paralogs with NAPRT: view

Variants for NAPRT Gene

Sequence variations from dbSNP and Humsavar for NAPRT Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1364060781 uncertain-significance, Inborn genetic diseases 143,580,011(-) C/T upstream_transcript_variant
rs1000384538 -- 143,577,451(-) C/A/T intron_variant
rs1000423832 -- 143,577,638(-) C/A intron_variant
rs1001393860 -- 143,578,453(-) T/C upstream_transcript_variant
rs1002724586 -- 143,574,504(-) C/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for NAPRT Gene

Variant ID Type Subtype PubMed ID
dgv12410n54 CNV loss 21841781
dgv12418n54 CNV loss 21841781
dgv7336n100 CNV gain 25217958
esv2738020 CNV deletion 23290073
esv2738021 CNV deletion 23290073
esv2738022 CNV deletion 23290073
nsv1147655 CNV deletion 26484159
nsv1161809 CNV deletion 26073780
nsv1161810 CNV deletion 26073780
nsv466000 CNV loss 19166990
nsv470247 CNV loss 18288195
nsv470248 CNV gain 18288195
nsv516210 CNV loss 19592680
nsv612774 CNV loss 21841781
nsv612777 CNV gain 21841781
nsv612793 CNV loss 21841781
nsv612812 CNV loss 21841781
nsv612813 CNV loss 21841781
nsv824770 CNV gain 20364138
nsv950013 CNV deletion 24416366

Variation tolerance for NAPRT Gene

Residual Variation Intolerance Score: 84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.92; 67.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAPRT Gene

Human Gene Mutation Database (HGMD)
NAPRT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAPRT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAPRT Gene

Disorders for NAPRT Gene

MalaCards: The human disease database

(1) MalaCards diseases for NAPRT Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pellagra
  • niacin deficiency
- elite association - COSMIC cancer census association via MalaCards
Search NAPRT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NAPRT

genes like me logo Genes that share disorders with NAPRT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NAPRT Gene

Publications for NAPRT Gene

  1. Characterization of human nicotinate phosphoribosyltransferase: Kinetic studies, structure prediction and functional analysis by site-directed mutagenesis. (PMID: 21742010) Galassi L … Magni G (Biochimie 2012) 2 3 4 56
  2. Elevation of cellular NAD levels by nicotinic acid and involvement of nicotinic acid phosphoribosyltransferase in human cells. (PMID: 17604275) Hara N … Tsuchiya M (The Journal of biological chemistry 2007) 2 3 4 56
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  4. NAD Synthesis Pathway Interference Is a Viable Therapeutic Strategy for Chondrosarcoma. (PMID: 28860121) Peterse EFP … Bovée JVMG (Molecular cancer research : MCR 2017) 3 56
  5. Synthesis and Degradation of Adenosine 5'-Tetraphosphate by Nicotinamide and Nicotinate Phosphoribosyltransferases. (PMID: 28416276) Amici A … Orsomando G (Cell chemical biology 2017) 3 56

Products for NAPRT Gene

Sources for NAPRT Gene