QDPR

Protein identityUniProt · HPA

UniProt accession

P09417

Gene

QDPR

Ensembl

ENSG00000151552

Chromosome

4

Canonical length

244 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

244 residues, UniProt reviewed canonical sequence.

>P09417|QDPR
     1  MAAAAAAGEA RRVLVYGGRG ALGSRCVQAF RARNWWVASV DVVENEEASA SIIVKMTDSF
    61  TEQADQVTAE VGKLLGEEKV DAILCVAGGW AGGNAKSKSL FKNCDLMWKQ SIWTSTISSH
   121  LATKHLKEGG LLTLAGAKAA LDGTPGMIGY GMAKGAVHQL CQSLAGKNSG MPPGAAAIAV
   181  LPVTLDTPMN RKSMPEADFS SWTPLEFLVE TFHDWITGKN RPSSGSLIQV VTTEGRTELT
   241  PAYF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against QDPR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

782 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about QDPR.

Disease | AllUniProt

Conditions QDPR is implicated in, by any mechanism.

• Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) MIM:261630

Disease | GeneticClinVar

60 pathogenic / likely-pathogenic of 419 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Dihydropteridine reductase deficiency
• Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
• 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
• Colorectal cancer
• QDPR-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.06

gnomAD pLI

0

gnomAD missense Z

0.28

DepMap mean gene effect

0.07

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amino acid metabolic process
• L-phenylalanine catabolic process
• tetrahydrobiopterin biosynthetic process
• dihydrobiopterin metabolic process

Molecular functions

• electron transfer activity
• NADH binding
• NADPH binding
• 6,7-dihydropteridine reductase activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Short-chain dehydrogenase/reductase SDR
• Short-chain dehydrogenase/reductase, conserved site
• NAD(P)-binding domain superfamily
• short chain dehydrogenase

KeywordsUniProt

• Acetylation
• NADP
• Oxidoreductase
• Phenylketonuria
• Tetrahydrobiopterin biosynthesis