Homo sapiens Gene: QPRT
Summary
InnateDB Gene IDBG-24543.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol QPRT
Gene Name quinolinate phosphoribosyltransferase
Synonyms HEL-S-90n; QPRTase;
Species Homo sapiens
Ensembl Gene ENSG00000103485
Encoded Proteins
quinolinate phosphoribosyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:29679008-29698699
Strand Forward strand
Band p11.2
Transcripts
ENST00000219771
ENST00000395384 ENSP00000378782
ENST00000564967
ENST00000562473 ENSP00000455183
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004514 nicotinate-nucleotide diphosphorylase (carboxylating) activity
GO:0016763 transferase activity, transferring pentosyl groups
GO:0042803 protein homodimerization activity
Biological Process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0009435 NAD biosynthetic process
GO:0019363 pyridine nucleotide biosynthetic process
GO:0019674 NAD metabolic process
GO:0034213 quinolinate catabolic process
GO:0044281 small molecule metabolic process
GO:0051259 protein oligomerization
Cellular Component
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Nicotinate metabolism pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
Nicotinate and nicotinamide metabolism pathway
INOH
Nicotinate Nicotinamide metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL H3BP73
UniProt Splice Variant
Entrez Gene 23475
UniGene Hs.513484 Hs.675754
RefSeq NM_014298 XM_005255223 XM_005276510 XM_005276511
HUGO HGNC:9755
OMIM 606248
CCDS CCDS10651
HPRD 06950
IMGT
EMBL AC009086 AC009133 AC023831
GenPept
RNA Seq Atlas 101929880 23475