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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
External Ids for QPRT Gene
- HGNC: 9755
- Entrez Gene: 23475
- Ensembl: ENSG00000103485
- OMIM: 606248
- UniProtKB: Q15274
Previous GeneCards Identifiers for QPRT Gene
- GC16M028713
- GC16P030014
- GC16P029688
- GC16P029728
- GC16P029597
- GC16P027351
- GC16P029675
- GC16P029690
- GC16P029677
Summaries 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 Hypertryptophanemia. Among its related pathways are superpathway of tryptophan utilization 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
-
Involved in the catabolism of quinolinic acid (QA).
Additional gene information for QPRT Gene
- HGNC(9755)
- Entrez Gene(23475)
- Ensembl(ENSG00000103485)
- OMIM(606248)
- UniProtKB(Q15274)
- Open Targets Platform(ENSG00000103485)
- Search for QPRT at DataMed
- Search for QPRT at HumanCyc
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 Pubs
Promoters and enhancers for QPRT 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 QPRT on the GeneHancer Hub at the UCSC Golden Path
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:
-
- 16p11.2 by HGNC
- 16p11.2 by Entrez Gene
- 16p11.2 by Ensembl
QPRT Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q53XW7
- Q96G22
- Q9BSG6
Protein attributes for QPRT Gene
- Size:
- 297 amino acids
- Molecular mass:
- 30846 Da
- Quaternary structure:
-
- Hexamer formed by 3 homodimers.
Protein Expression for QPRT Gene
Selected DME Specific Peptides for QPRT Gene
- Q15274:
-
- LWAKSPGVLAG
- LKVEVECSSL
- TRKTTPG
Post-translational modifications for QPRT Gene
Other Protein References for QPRT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences QPRT Monoclonal Antibody
- Novus Biologicals Antibodies for QPRT
-
Abcam antibodies for QPRT
- Invitrogen Antibodies for QPRT (AFLGC-QPRT)
-
Santa Cruz Biotechnology (SCBT) Antibodies for QPRT
Protein Products
- G Biosciences Human QAPRTase/QPRT, Liquid
-
OriGene Purified Proteins for QPRT
- Search Origene for MassSpec and Protein Over-expression Lysates for QPRT
- Origene Custom Protein Services for QPRT
- ProSpec Recombinant Proteins for QPRT
-
Signalway Proteins for QPRT
-
ProSci Proteins for QPRT
-
Abcam proteins for QPRT
Assay Products
- Novus Biologicals ELISA Kits for QPRT
- antibodies-online: Show 12 available QPRT Elisa Kits ranked by validation data
- Compare Top QPRT Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for QPRT
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
- InterPro:
- Blocks:
-
- Quinolinate phosphoribosyl transferase
- ProtoNet:
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- Family:
-
- Belongs to the NadC/ModD family.
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; Evidence={ECO:0000269|PubMed:17868694, ECO:0000269|PubMed:24038671, ECO:0000269|PubMed:9473669};.
- 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};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activity toward QA is slightly repressed by phosphoribosylpyrophosphate (PRPP) in both a competitive and a non-competitive manner (PubMed:17868694). Competitively inhibited by phthalic acid (PHT) (PubMed:24038671).
Enzyme Numbers (IUBMB) for QPRT Gene
Phenotypes From GWAS Catalog for QPRT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| 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 | -- |
Phenotypes for QPRT Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for QPRT
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for QPRT - Select products 50% OFF >
- * QPRT CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for QPRT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for QPRT
-
Santa Cruz Biotechnology (SCBT) CRISPR for QPRT
miRNA for QPRT Gene
- miRTarBase miRNAs that target QPRT
-
- hsa-miR-335-5p (MIRT017727)
- hsa-miR-26b-5p (MIRT029367)
- hsa-miR-1226-3p (MIRT036528)
- hsa-miR-423-3p (MIRT042601)
- hsa-miR-4446-5p (MIRT613685)
- hsa-miR-6809-3p (MIRT613686)
- hsa-miR-6833-3p (MIRT613687)
- hsa-miR-4768-5p (MIRT613688)
- hsa-miR-5006-3p (MIRT613689)
- hsa-miR-4755-5p (MIRT613690)
- hsa-miR-4753-3p (MIRT613691)
- hsa-miR-6873-3p (MIRT613692)
- hsa-miR-642a-5p (MIRT613693)
- hsa-miR-130b-5p (MIRT613694)
- hsa-miR-6817-3p (MIRT613695)
- hsa-miR-7110-3p (MIRT613696)
- hsa-miR-4469 (MIRT613697)
- hsa-miR-6769b-3p (MIRT613698)
- hsa-miR-4723-3p (MIRT613699)
- hsa-miR-3183 (MIRT613700)
- hsa-miR-2276-5p (MIRT613701)
- hsa-miR-6892-3p (MIRT613702)
- hsa-miR-4667-3p (MIRT613703)
- hsa-miR-1470 (MIRT613704)
- hsa-miR-5698 (MIRT635230)
- hsa-miR-891a-3p (MIRT635231)
- hsa-miR-143-5p (MIRT635232)
- hsa-miR-4430 (MIRT635233)
- hsa-miR-3652 (MIRT635234)
- hsa-miR-593-5p (MIRT635235)
- hsa-miR-122-5p (MIRT635236)
- hsa-miR-504-3p (MIRT635237)
- hsa-miR-3135b (MIRT635238)
- hsa-miR-6499-3p (MIRT635239)
- hsa-miR-767-5p (MIRT635240)
- hsa-miR-5693 (MIRT635241)
- hsa-miR-6736-3p (MIRT635242)
- hsa-miR-500b-3p (MIRT635243)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for QPRT
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Clone Products
- Applied Biological Materials (abm): Clones for QPRT - Select products 50% OFF >
- * QPRT as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for QPRT
- Addgene plasmids for QPRT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for QPRT
Cell Line Products
-
Horizon Cell Lines for QPRT
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for QPRT Gene
Localization for QPRT Gene
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| cytosol | 4 |
| plasma membrane | 3 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0070062 | extracellular exosome | HDA | 23533145 |
| GO:1902494 | catalytic complex | IDA | 17868694 |
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
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | superpathway of tryptophan utilization | ||
| 2 | NAD metabolism |
NAD metabolism
.53
|
|
| 3 | Metabolism |
.40
|
|
| 4 | Metabolism of water-soluble vitamins and cofactors | ||
| 5 | Nicotinate metabolism | ||
Pathways by source for QPRT Gene
5 BioSystems pathways for QPRT Gene
4 Reactome pathways for QPRT Gene
2 KEGG pathways for QPRT Gene
1 GeneGo (Thomson Reuters) pathway for QPRT Gene
- NAD metabolism
UniProtKB/Swiss-Prot Q15274-NADC_HUMAN
- Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; nicotinate D-ribonucleotide from quinolinate: step 1/1.
Interacting Proteins for QPRT Gene
Selected Interacting proteins:
Q15274-NADC_HUMAN
ENSP00000404873
ENSP00000378782
for QPRT Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for QPRT
| 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 | -- |
No data available for SIGNOR curated interactions for QPRT Gene
Drugs & Compounds for QPRT Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Niacin | Approved, Investigational | Nutra | Agonist, Unknown, Full agonist, Target, binder | 432,432 | ||
| Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
| Phosphoric acid | Approved | Pharma | 0 | |||
| Quinolinic acid | Experimental | Pharma | 0 | |||
| NAD | Experimental | Pharma | Agonist, Full agonist, Activator | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| nicotinate beta-D-ribonucleotide |
|
|
||||
| Nicotinic acid mononucleotide |
|
321-02-8 |
|
|||
| Phosphoribosyl pyrophosphate |
|
7540-64-9 |
|
|||
| pyridine |
|
110-86-1 |
|
|||
| pyrophosphate |
|
14000-31-8 |
|
Drug Products
- G Biosciences Human QAPRTase/QPRT, Liquid
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 :
-
- ENST00000219771 913 nts (view in UCSC)
- ENST00000395384 2200 nts (view in UCSC)
- ENST00000449759 1237 nts (view in UCSC)
- ENST00000562473 579 nts (view in UCSC)
- ENST00000564967 2199 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for QPRT - Select products 50% OFF >
- * QPRT CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for QPRT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for QPRT
-
Santa Cruz Biotechnology (SCBT) CRISPR for QPRT
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for QPRT
- Browse OriGene Inhibitory RNA Products For QPRT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QPRT
Clone Products
- Applied Biological Materials (abm): Clones for QPRT - Select products 50% OFF >
- * QPRT as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for QPRT
- Addgene plasmids for QPRT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for QPRT
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Myoblasts Mandibular Arch Muscles
- Muscle Progenitor Cells Mandibular Arch Muscles
- Myoblasts Hyoid Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
- Bone (Muscoskeletal System)
-
Kidney (Urinary System)
-
Adrenal Gland (Endocrine System)
-
Liver (Hepatobiliary System)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for QPRT
SOURCE GeneReport for Unigene cluster for QPRT Gene:
Hs.513484Evidence on tissue expression from TISSUES for QPRT Gene
- Liver(4.6)
- Kidney(4.6)
- Nervous system(4.5)
- Muscle(4.4)
Primer Products
-
OriGene qPCR primer pairs for QPRT
-
OriGene qPCR primer pairs and template standards for QPRT
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | QPRT 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | QPRT 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | QPRT 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Qprt 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Qprt 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | QPRT 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | QPRT 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | QPRT 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100495332 30 |
|
||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8714 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR271W 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BNA6 30 31 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | QPT 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os09g0553600 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU02998 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1371 31 |
|
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 Vase (Ciona intestinalis)
- 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
| 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pellagra |
|
|
| hypertryptophanemia |
|
|
| autism |
|
|
Search QPRT in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for QPRT
No data available for UniProtKB/Swiss-Prot and Genatlas for QPRT Gene
Publications for QPRT Gene
- 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
- 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
- Structural Insights into the Quaternary Catalytic Mechanism of Hexameric Human Quinolinate Phosphoribosyltransferase, a Key Enzyme in de novo NAD Biosynthesis. (PMID: 26805589) Youn HS … Eom SH (Scientific reports 2016) 3 4
- The crystal structure of human quinolinic acid phosphoribosyltransferase in complex with its inhibitor phthalic acid. (PMID: 24038671) Malik SS … Toth EA (Proteins 2014) 3 4
- 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
ExternalLinks
Products for QPRT Gene
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- Custom Assay Services
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- Origene Custom Protein Services for QPRT
- Origene shrna, sirna, and RNAi products in human, mouse, rat for QPRT
- Browse OriGene Inhibitory RNA Products For QPRT
- OriGene qPCR primer pairs for QPRT
- OriGene qPCR primer pairs and template standards for QPRT
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- Browse OriGene miRNA Products For QPRT
- Sino Biological Human cDNA Clone for QPRT
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- Browse Sino Biological Antibodies
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for QPRT
- Novus Biologicals proteins and lysates for QPRT
- Novus Biologicals ELISA Kits for QPRT
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for QPRT
- Abcam proteins for QPRT
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for QPRT
- Taconic Biosciences Mouse Models for QPRT
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for QPRT (AFLGC-QPRT)
- VectorBuilder Custom and pre-made DNA vectors for QPRT (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for QPRT (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for QPRT (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for QPRT CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for QPRT
- Addgene plasmids for QPRT
- antibodies-online: Show 21 available QPRT Antibodies ranked by validation data
- Compare Top QPRT Antibodies
- antibodies-online: Show 12 available QPRT Elisa Kits ranked by validation data
- Compare Top QPRT Elisa Kits
- Quality Products:
- antibodies-online: Show 15 available QPRT Proteins ranked by validation data
- Compare Top QPRT Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for QPRT
- Search Santa Cruz Biotechnology (SCBT) for QPRT siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for QPRT
- Search for QPRT Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for QPRT
- Horizon Cell Lines for QPRT
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for QPRT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for QPRT
- Search GeneCopoeia for miRNA 3'UTR Target clone products for QPRT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QPRT
Sources for QPRT Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB