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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 disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
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.
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 | -- |
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 |
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 |
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 | -- |
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 |
|
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||
SP5: | - | - | - | - |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pellagra |
|
|
hypertryptophanemia |
|
|
autism |
|
|