This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's diseas... See more...

Aliases for QPRT Gene

Aliases for QPRT Gene

  • Quinolinate Phosphoribosyltransferase 2 3 5
  • Nicotinate-Nucleotide Pyrophosphorylase [Carboxylating] 3 4
  • Nicotinate-Nucleotide Pyrophosphorylase (Carboxylating) 2 3
  • EC 2.4.2.19 4 52
  • QPRTase 3 4
  • Quinolinate Phosphoribosyltransferase [Decarboxylating] 4
  • Epididymis Secretory Sperm Binding Protein Li 90n 3
  • HEL-S-90n 3
  • QAPRTase 4

External Ids for QPRT Gene

Previous GeneCards Identifiers for QPRT Gene

  • GC16M028713
  • GC16P030014
  • GC16P029688
  • GC16P029728
  • GC16P029597
  • GC16P027351
  • GC16P029675
  • GC16P029690
  • GC16P029677

Summaries for QPRT Gene

Entrez Gene Summary for QPRT Gene

  • This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for QPRT Gene

QPRT (Quinolinate Phosphoribosyltransferase) is a Protein Coding gene. Diseases associated with QPRT include Pellagra and Seizure Disorder. Among its related pathways are NAD metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring pentosyl groups.

UniProtKB/Swiss-Prot Summary for QPRT Gene

Additional gene information for QPRT Gene

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

Genomics for QPRT Gene

GeneHancer (GH) Regulatory Elements for QPRT Gene

Promoters and enhancers for QPRT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J029678 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 507.9 +16.7 16688 3 EP300 FOXK2 MYC USF1 POLR2G NCOR1 GTF2E2 ZNF10 ZIC2 KDM6A QPRT GDPD3 INO80E HSALNG0110625 RF00017-2041
GH16J029661 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.2 1201 6.6 ZBTB40 EP300 CTCF SIN3A NRF1 SP1 GTF2E2 PHB2 POLR2A ZBTB11 QPRT SPN lnc-QPRT-3
GH16J029626 Enhancer 0.7 ENCODE 13.5 -36.0 -36033 1.5 MEF2B NBN SMARCA5 ZFHX2 IKZF1 SCRT1 NFATC3 HDGF TBX21 PAX5 QPRT SPN CA5AP1 ENSG00000260514 hsa-miR-5095-193 lnc-SPN-2
GH16J029628 Promoter 0.6 Ensembl 13.5 -35.0 -34978 0.6 ARNT BHLHE40 TARDBP IKZF1 IKZF2 QPRT SPN ENSG00000260514 hsa-miR-5095-193 lnc-SPN-2 CA5AP1
GH16J029640 Enhancer 1.2 Ensembl ENCODE 5.9 -14.7 -14652 17.1 ZNF217 CTCF USF1 POLR2G SP1 SIX5 PHB2 EP300 ZBTB11 ZNF623 CA5AP1 QPRT INO80E SNX29P2 SMG1P2 GDPD3 MAPK3 SPN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around QPRT on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for QPRT

Top Transcription factor binding sites by QIAGEN in the QPRT gene promoter:
  • Egr-2
  • En-1
  • FOXI1
  • HFH-3
  • MIF-1
  • p53
  • XBP-1

Genomic Locations for QPRT Gene

Genomic Locations for QPRT Gene
chr16:29,663,279-29,698,699
(GRCh38/hg38)
Size:
35,421 bases
Orientation:
Plus strand
chr16:29,674,600-29,710,020
(GRCh37/hg19)
Size:
35,421 bases
Orientation:
Plus strand

Genomic View for QPRT Gene

Genes around QPRT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for QPRT Gene

Proteins for QPRT Gene

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

    Protein Symbol:
    Q15274-NADC_HUMAN
    Recommended name:
    Nicotinate-nucleotide pyrophosphorylase [carboxylating]
    Protein Accession:
    Q15274
    Secondary Accessions:
    • Q53XW7
    • Q96G22
    • Q9BSG6

    Protein attributes for QPRT Gene

    Size:
    297 amino acids
    Molecular mass:
    30846 Da
    Quaternary structure:
    • Hexamer formed by 3 homodimers.

    Three dimensional structures from OCA and Proteopedia for QPRT Gene

neXtProt entry for QPRT Gene

Selected DME Specific Peptides for QPRT Gene

Q15274:
  • LWAKSPGVLAG
  • LKVEVECSSL
  • TRKTTPG

Post-translational modifications for QPRT Gene

  • Ubiquitination at Lys183 and Lys288
  • Modification sites at PhosphoSitePlus

Other Protein References for QPRT Gene

Domains & Families for QPRT Gene

Gene Families for QPRT Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for QPRT Gene

Suggested Antigen Peptide Sequences for QPRT Gene

GenScript: Design optimal peptide antigens:
  • Quinolinate phosphoribosyltransferase [decarboxylating] (NADC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15274

UniProtKB/Swiss-Prot:

NADC_HUMAN :
  • Belongs to the NadC/ModD family.
Family:
  • Belongs to the NadC/ModD family.
genes like me logo Genes that share domains with QPRT: view

Function for QPRT Gene

Molecular function for QPRT Gene

UniProtKB/Swiss-Prot Function:
Involved in the catabolism of quinolinic acid (QA).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=CO2 + diphosphate + nicotinate beta-D-ribonucleotide = 5-phospho-alpha-D-ribose 1-diphosphate + 2 H(+) + quinolinate; Xref=Rhea:RHEA:12733, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:29959, ChEBI:CHEBI:33019, ChEBI:CHEBI:57502, ChEBI:CHEBI:58017; EC=2.4.2.19;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity toward QA is slightly repressed by phosphoribosylpyrophosphate (PRPP) in both a competitive and a non-competitive manner.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=21 uM for QA (at 0.1 mM PRPP) {ECO:0000269 PubMed:17868694}; KM=23 uM for QA (at 0.3 mM PRPP) {ECO:0000269 PubMed:17868694}; Vmax=1.2 uM/min/mg enzyme (at 0.3 mM QA and 0.1 mM PRPP) {ECO:0000269 PubMed:17868694}; Vmax=0.93 uM/min/mg enzyme (at 0.3 mM QA and 0.3 mM PRPP) {ECO:0000269 PubMed:17868694};

Enzyme Numbers (IUBMB) for QPRT Gene

Phenotypes From GWAS Catalog for QPRT Gene

Gene Ontology (GO) - Molecular Function for QPRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004514 nicotinate-nucleotide diphosphorylase (carboxylating) activity IEA,TAS --
GO:0005515 protein binding IPI 25464930
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016763 transferase activity, transferring pentosyl groups IEA --
genes like me logo Genes that share ontologies with QPRT: view
genes like me logo Genes that share phenotypes with QPRT: view

Animal Model Products

  • Taconic Biosciences Mouse Models for QPRT

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for QPRT

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

Localization for QPRT Gene

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 QPRT gene
Compartment Confidence
cytosol 4
plasma membrane 3
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for QPRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IEA 21873635
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with QPRT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for QPRT Gene

Pathways & Interactions for QPRT Gene

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

UniProtKB/Swiss-Prot Q15274-NADC_HUMAN

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

Gene Ontology (GO) - Biological Process for QPRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009435 NAD biosynthetic process IEA --
GO:0019363 pyridine nucleotide biosynthetic process IEA --
GO:0019674 NAD metabolic process TAS --
GO:0034213 quinolinate catabolic process IDA 3409840
GO:0046874 quinolinate metabolic process IEA --
genes like me logo Genes that share ontologies with QPRT: view

No data available for SIGNOR curated interactions for QPRT Gene

Drugs & Compounds for QPRT Gene

(7) Drugs for QPRT Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Niacin Approved, Investigational Nutra Full agonist, Agonist, Unknown, Target, binder 530,530
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Phosphoric acid Approved Pharma 0
Quinolinic acid Experimental Pharma 0
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(5) Additional Compounds for QPRT 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
pyridine
  • Azabenzene
  • py
  • Azine
  • Piridina
  • Pirydyna
110-86-1
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with QPRT: view

Transcripts for QPRT Gene

mRNA/cDNA for QPRT Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for QPRT

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

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
SP1:
SP2:
SP3: - - -
SP4: -
SP5: - - - -

Relevant External Links for QPRT Gene

GeneLoc Exon Structure for
QPRT

Expression for QPRT Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for QPRT Gene

This gene is overexpressed in Liver (x8.6), Adrenal Gland (x5.8), and Kidney - Cortex (x5.6).

Protein differential expression in normal tissues from HIPED for QPRT Gene

This gene is overexpressed in Liver, secretome (22.1) and Kidney (6.2).

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



Protein tissue co-expression partners for QPRT Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for QPRT

SOURCE GeneReport for Unigene cluster for QPRT Gene:

Hs.513484

Evidence on tissue expression from TISSUES for QPRT Gene

  • Liver(4.6)
  • Kidney(4.5)
  • Nervous system(4.4)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with QPRT: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for QPRT Gene

Orthologs for QPRT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for QPRT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia QPRT 30
  • 98.55 (n)
cow
(Bos Taurus)
Mammalia QPRT 31 30
  • 86.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia QPRT 31 30
  • 85.41 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Qprt 17 31 30
  • 81.41 (n)
rat
(Rattus norvegicus)
Mammalia Qprt 30
  • 81.07 (n)
oppossum
(Monodelphis domestica)
Mammalia QPRT 31
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia QPRT 31
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia QPRT 31
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495332 30
  • 55.32 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8714 30
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR271W 30
  • 52.43 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BNA6 31 30
  • 51.44 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons QPT 30
  • 45.76 (n)
rice
(Oryza sativa)
Liliopsida Os09g0553600 30
  • 43.91 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02998 30
  • 54.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1371 31
  • 38 (a)
OneToOne
Species where no ortholog for QPRT was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for QPRT Gene

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

Paralogs for QPRT Gene

No data available for Paralogs for QPRT Gene

Variants for QPRT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for QPRT Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs2303255 - p.Ala158Val
rs9932770 - p.Thr195Ala

Additional dbSNP identifiers (rs#s) for QPRT Gene

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

Variant ID Type Subtype PubMed ID
dgv34n68 CNV loss 17160897
esv23737 CNV gain 19812545
esv2758641 CNV gain 17122850
esv3638370 CNV loss 21293372
nsv1063706 CNV gain 25217958
nsv1134520 CNV deletion 24896259
nsv571816 CNV gain 21841781
nsv571817 CNV gain 21841781
nsv833183 CNV loss 17160897

Variation tolerance for QPRT Gene

Residual Variation Intolerance Score: 82.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.81; 66.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for QPRT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
QPRT

SNP Genotyping and Copy Number Assay Products

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

Disorders for QPRT Gene

MalaCards: The human disease database

(2) MalaCards diseases for QPRT Gene - From: DISEASES and GeneCards

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

Additional Disease Information for QPRT

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

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

Publications for QPRT Gene

  1. Characterization and functional expression of the cDNA encoding human brain quinolinate phosphoribosyltransferase. (PMID: 9473669) Fukuoka SI … Shibata K (Biochimica et biophysica acta 1998) 2 3 4 23 54
  2. Structural and kinetic characterization of quinolinate phosphoribosyltransferase (hQPRTase) from homo sapiens. (PMID: 17868694) Liu H … Naismith JH (Journal of molecular biology 2007) 3 4 23 54
  3. QPRT: a potential marker for follicular thyroid carcinoma including minimal invasive variant; a gene expression, RNA and immunohistochemical study. (PMID: 19321014) Hinsch N … Hansmann ML (BMC cancer 2009) 3 23 54
  4. Changes in trigonelline (N-methylnicotinic acid) content and nicotinic acid metabolism during germination of mungbean (Phaseolus aureus) seeds. (PMID: 15837705) Zheng XQ … Ashihara H (Journal of experimental botany 2005) 23 26 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for QPRT Gene

Sources for QPRT Gene