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FLASH GENE
Symbol QDPR contributors: mct - updated : 21-12-2011
HGNC name quinoid dihydropteridine reductase
HGNC id 9752
Corresponding disease
HPABH4C hyperphenylalaninemia, BH4-deficient, C
Location 4p15.32      Physical location : 17.488.019 - 17.513.857
Synonym name
  • 6,7-dihydropteridine reductase
  • short chain dehydrogenase/reductase family 33C, member 1
  • Synonym symbol(s) DHPR, PKU2, SDR33C1, HDHPR, FLJ42391
    EC.number 1.6.99.7, 1.5.1.34
    DNA
    TYPE functioning gene
    STRUCTURE 25.84 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    CPEB2 4p15.33 cytoplasmic polyadenylation element binding protein 2 C1QTNF7 4p15.3 C1q and tumor necrosis factor related protein 7 KIAA1345 4p15.33 KIAA1345 protein FBXL5 4p15.3-p15.2 F-box and leucine-rich repeat protein 5 LOC285550 4p15.33 hypothetical protein LOC285550 BST1 14q32.3 bone marrow stromal cell antigen 1 CD38 4p15 CD38 antigen (p45) HBP17 4p16-p15 CD38 antigen (p45) KSP37 4p16 Ksp37 protein PROM1 4p16.1-p15.2 prominin 1 FLJ90013 4p15.33 hypothetical protein FLJ90013 FLJ39653 4p15.33 hypothetical protein FLJ39653 LOC391637 4 similar to Zinc finger homeobox protein 1b (Smad interacting protein 1) (SMADIP1) (HRIHFB2411) LDB2 4p15 LIM domain binding 2 LOC391638 4 similar to 40S ribosomal protein S7 (S8) QDPR 4p15.31 quinoid dihydropteridine reductase LOC391639 4 similar to alpha NAC/1.9.2. protein LAP3 4p15.33 leucine aminopeptidase 3 EG1 4p16 leucine aminopeptidase 3 KIAA1276 4p16 KIAA1276 protein FLJ20280 4p15.33 hypothetical protein FLJ20280 HCAP-G 4p16-p15 chromosome condensation protein G MLR1 4p15.33 transcription factor MLR1 LOC389202 4 LOC389202
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1660 - 244 - 1998 9744478
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveliver   moderately
     pancreas exocrine   moderately
    Nervousbrain   predominantly
    Reproductivefemale systemuteruscervix moderately
     female systemovary  moderately
    Skin/Tegumentskin   highly
    Visualeye   moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Qdpr
    ortholog to murine Qdpr
    Homologene
    FAMILY
  • short-chain dehydrogenases/reductases (SDR) family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • producing tetrahydrobiopterin (BH4), an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases
  • being an essential component of the pterin-dependent aromatic amino acid hydroxylating systems
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid , cofactor
    signaling
  • tetrahydrobiopterin (BH4) cycle
  • phenylalanine hydroxylation system
  • a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADP
  • protein
  • direct molecular interaction between CAV3 and QDPR which is likely to underlie their functional link and whose loss might therefore be involved in pathophysiological mechanisms associated to muscle caveolinopathies
  • physical interaction of RYR1 with QDPR (RYR1 is controlled by the electrical potential across the transverse tubular (TT) membrane) (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPABH4C
    related resource Quinoid Dihydropteridine reductase deficiency
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS