QPRT (Quinolinate Phosphoribosyltransferase)
Gene encoding the enzyme quinolinate phosphoribosyltransferase, involved in NAD biosynthesis and linked to neurological disorders.
Gene Information Card
| Symbol | QPRT |
|---|---|
| Full Name | Quinolinate Phosphoribosyltransferase |
| Gene Type | Protein-coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 23475 ncbi.nlm.nih.gov/gene/23475 |
| Ensembl ID | ENSG00000103485 |
| UniProt ID | Q15274 |
| OMIM ID | 606248 |
| HGNC ID | 9751 |
| Aliases | QPRTase |
Description
QPRT encodes quinolinate phosphoribosyltransferase, an enzyme that catalyzes the conversion of quinolinate to nicotinate mononucleotide (NaMN) in the kynurenine pathway, a key step in NAD+ biosynthesis. Deficiency leads to accumulation of neurotoxic quinolinate and is associated with early-onset neurodegenerative disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| QPRT deficiency (neurodegenerative disorder) | Loss-of-function mutations impair NAD synthesis and cause quinolinate accumulation, leading to neuronal toxicity. | OMIM #606248; PMID: 26917556 |
| Autism spectrum disorder | Rare QPRT variants may disrupt NAD metabolism and neurodevelopment. | ClinVar; PMID: 25363760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain (cerebellum) | 6.1 | Low |
| Heart | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocyte line |
| SH-SY5Y | 5.8 | Neuroblastoma line |
| HEK293 | 7.4 | Embryonic kidney line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.622C>T (p.Arg208*) | Nonsense | Rare | Loss of function; truncation |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation |
| c.347G>A (p.Arg116Gln) | Missense | Rare | Reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations cause complete loss of QPRT activity, leading to quinolinate accumulation and neurodegeneration.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514) | • NAD biosynthetic process (GO:0009435) |
| • cytoplasm (GO:0005737) |
Pathways
• KEGG: hsa00760 - Nicotinate and nicotinamide metabolism
• Reactome: R-HSA-196807 - Nicotinate metabolism
Protein Summary
QPRT is a 297-amino acid cytoplasmic enzyme that forms homodimers. It catalyzes the phosphoribosylation of quinolinate to nicotinate mononucleotide, a rate-limiting step in the de novo NAD+ synthesis pathway. The protein is highly conserved and expressed in liver, kidney, and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| QPRT Knockout HEK293 Cell Line | EDJ-KQ51109 | Human | 23475 | Details Get a Quote |
| QPRT Knockout HeLa Cell Line | EDJ-KQ55747 | Human | 23475 | Details Get a Quote |
| QPRT Knockout A-549 Cell Line | EDJ-KQ64245 | Human | 23475 | Details Get a Quote |
| QPRT Knockout HCT 116 Cell Line | EDJ-KQ72691 | Human | 23475 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
