QPRT Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | QPRT |
| Official Name | quinolinate phosphoribosyltransferase [Source:HGNC Symbol;Acc:HGNC:9755] |
| Ensembl ID | ENSG00000103485 |
| Bio databases IDs | |
| Aliases | quinolinate phosphoribosyltransferase, nicotinate-nucleotide pyrophosphorylase (carboxylating) |
| Synonyms | 2410027J01RIK, HEL-S-90n, LOC100912382, LOC101929880, Qaprt, QPRTase, QUINOLINATE PHOSPHORIBOSYLTRANSFERASE, QUINOLINIC ACID PHOSPHORIBOSYLTRANSFERASE |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human QPRT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- putative molybdenum utilization protein ModD
- TIM-like beta/alpha barrel domains
- nicotinate-nucleotide diphosphorylase (carboxylating)
- Quinolinate phosphoribosyl transferase, N-terminal domain
- nicotinate-nucleotide pyrophosphorylase
- enzyme
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cardiovascular disorder
- end stage renal disease
- hyperphosphatemia
- organismal death
- peripheral vascular disease
- dyslipidemia
- high density lipoprotein deficency
- diabetes mellitus
- nonfatal myocardial infarction
- atherosclerosis
regulates
- quinolinic acid
- nicotinate D-ribonucleotide
- NAD+
- phosphoribosyl pyrophosphate
- pyrophosphate
- carbon dioxide
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human QPRT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- NAD biosynthetic process
- NAD metabolic process
- quinolinate catabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- nicotinate-nucleotide diphosphorylase (carboxylating) activity