Homo sapiens Gene: QDPR
Summary
InnateDB Gene IDBG-10906.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol QDPR
Gene Name quinoid dihydropteridine reductase
Synonyms DHPR; PKU2; SDR33C1
Species Homo sapiens
Ensembl Gene ENSG00000151552
Encoded Proteins
quinoid dihydropteridine reductase
quinoid dihydropteridine reductase
quinoid dihydropteridine reductase
quinoid dihydropteridine reductase
quinoid dihydropteridine reductase
quinoid dihydropteridine reductase
quinoid dihydropteridine reductase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:17460261-17512234
Strand Reverse strand
Band p15.32
Transcripts
ENST00000281243 ENSP00000281243
ENST00000428702 ENSP00000390944
ENST00000513615 ENSP00000422759
ENST00000507439 ENSP00000423227
ENST00000501943
ENST00000508623 ENSP00000426377
ENST00000514300 ENSP00000426039
ENST00000505710 ENSP00000420873
ENST00000511609
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004155 6,7-dihydropteridine reductase activity
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0042803 protein homodimerization activity
GO:0070402 NADPH binding
GO:0070404 NADH binding
Biological Process
GO:0001889 liver development
GO:0006520 cellular amino acid metabolic process
GO:0006559 L-phenylalanine catabolic process
GO:0006729 tetrahydrobiopterin biosynthetic process
GO:0008152 metabolic process
GO:0010044 response to aluminum ion
GO:0010288 response to lead ion
GO:0033762 response to glucagon
GO:0034641 cellular nitrogen compound metabolic process
GO:0035690 cellular response to drug
GO:0044281 small molecule metabolic process
GO:0051066 dihydrobiopterin metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0043005 neuron projection
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Phenylalanine and tyrosine catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
KEGG
Folate biosynthesis pathway
INOH
Folate metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.618135
RefSeq NM_000320
HUGO
OMIM
CCDS CCDS3421
HPRD 02025
IMGT
EMBL
GenPept
RNA Seq Atlas