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Aliases for QDPR Gene

Aliases for QDPR Gene

  • Quinoid Dihydropteridine Reductase 2 3 4 5
  • Short Chain Dehydrogenase/Reductase Family 33C Member 1 3 4
  • 6,7-Dihydropteridine Reductase 2 3
  • EC 1.5.1.34 4 63
  • SDR33C1 3 4
  • HDHPR 3 4
  • DHPR 3 4
  • Short Chain Dehydrogenase/Reductase Family 33C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 33C 2
  • Testis Secretory Sperm-Binding Protein Li 236P 3
  • Member 1 2
  • PKU2 3

External Ids for QDPR Gene

Previous GeneCards Identifiers for QDPR Gene

  • GC04M017302
  • GC04M017430
  • GC04M017176
  • GC04M017238
  • GC04M017164
  • GC04M017097
  • GC04M016842

Summaries for QDPR Gene

Entrez Gene Summary for QDPR 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]

GeneCards Summary for QDPR Gene

QDPR (Quinoid Dihydropteridine Reductase) is a Protein Coding gene. Diseases associated with QDPR include hyperphenylalaninemia, bh4-deficient, c and phenylketonuria. Among its related pathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include protein homodimerization activity and electron carrier activity.

UniProtKB/Swiss-Prot for QDPR Gene

  • The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.

Gene Wiki entry for QDPR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for QDPR Gene

Genomics for QDPR Gene

Regulatory Elements for QDPR Gene

Promoters for QDPR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around QDPR on UCSC Golden Path with GeneCards custom track

Genomic Location for QDPR Gene

Chromosome:
4
Start:
17,460,261 bp from pter
End:
17,512,234 bp from pter
Size:
51,974 bases
Orientation:
Minus strand

Genomic View for QDPR Gene

Genes around QDPR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
QDPR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for QDPR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for QDPR Gene

Proteins for QDPR Gene

  • Protein details for QDPR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09417-DHPR_HUMAN
    Recommended name:
    Dihydropteridine reductase
    Protein Accession:
    P09417
    Secondary Accessions:
    • A8K158
    • B3KW71
    • Q53F52
    • Q9H3M5

    Protein attributes for QDPR Gene

    Size:
    244 amino acids
    Molecular mass:
    25790 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for QDPR Gene

    Alternative splice isoforms for QDPR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for QDPR Gene

Proteomics data for QDPR Gene at MOPED

Post-translational modifications for QDPR Gene

  • Ubiquitination at Lys 138
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for QDPR Gene

Gene Families for QDPR Gene

Protein Domains for QDPR Gene

Graphical View of Domain Structure for InterPro Entry

P09417

UniProtKB/Swiss-Prot:

DHPR_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with QDPR: view

Function for QDPR Gene

Molecular function for QDPR Gene

GENATLAS Biochemistry:
quininoid dihydropteridine reductase,tetrahydrobiopterin (BH4) cycle,phenylalanine hydroxylation system
UniProtKB/Swiss-Prot CatalyticActivity:
A 5,6,7,8-tetrahydropteridine + NAD(P)(+) = a 6,7-dihydropteridine + NAD(P)H.
UniProtKB/Swiss-Prot Function:
The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.

Enzyme Numbers (IUBMB) for QDPR Gene

Gene Ontology (GO) - Molecular Function for QDPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004155 6,7-dihydropteridine reductase activity EXP 3033643
GO:0016491 oxidoreductase activity IEA --
GO:0070404 NADH binding IEA --
genes like me logo Genes that share ontologies with QDPR: view
genes like me logo Genes that share phenotypes with QDPR: view

Human Phenotype Ontology for QDPR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for QDPR Gene

MGI Knock Outs for QDPR:

Animal Model Products

miRNA for QDPR Gene

miRTarBase miRNAs that target QDPR

No data available for Transcription Factor Targets and HOMER Transcription for QDPR Gene

Localization for QDPR Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for QDPR Gene COMPARTMENTS Subcellular localization image for QDPR gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 4
endoplasmic reticulum 3
plasma membrane 2
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for QDPR Gene

Pathways & Interactions for QDPR Gene

genes like me logo Genes that share pathways with QDPR: view

Gene Ontology (GO) - Biological Process for QDPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006520 cellular amino acid metabolic process TAS 3033643
GO:0006729 tetrahydrobiopterin biosynthetic process IEA --
GO:0010288 response to lead ion IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
genes like me logo Genes that share ontologies with QDPR: view

No data available for SIGNOR curated interactions for QDPR Gene

Drugs & Compounds for QDPR Gene

(28) Drugs for QDPR Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrahydrobiopterin Approved, Investigational Pharma 0
dihydrobiopterin Experimental Pharma 0
2-(N-Morpholino)-Ethanesulfonic Acid Experimental Pharma Target 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(27) Additional Compounds for QDPR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dihydropteridine
  • 6,7-Dihydropteridine
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
4a-Carbinolamine tetrahydrobiopterin
  • 1,3,5-Benzenetriol
  • 1,3,5-Trihydroxybenzene
  • 1,3,5-Trihydroxybenzene anhydrate
  • 1,3,5-Trihydroxybenzene anhydrous
  • 1,3,5-Trihydroxybenzene dihydrate
79647-29-3
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
L-erythro-tetrahydrobiopterin
genes like me logo Genes that share compounds with QDPR: view

Transcripts for QDPR Gene

Unigene Clusters for QDPR Gene

Quinoid dihydropteridine reductase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for QDPR Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - - - - -
SP5: - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - - -
SP9: - - - - - - -
SP10: - - - - - - - - - -
SP11: -
SP12: -
SP13:

Relevant External Links for QDPR Gene

GeneLoc Exon Structure for
QDPR
ECgene alternative splicing isoforms for
QDPR

Expression for QDPR Gene

mRNA expression in normal human tissues for QDPR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for QDPR Gene

This gene is overexpressed in Brain - Substantia nigra (x6.8), Brain - Spinal cord (cervical c-1) (x6.5), Brain - Putamen (basal ganglia) (x4.4), Brain - Hippocampus (x4.2), and Brain - Amygdala (x4.1).

Protein differential expression in normal tissues from HIPED for QDPR Gene

This gene is overexpressed in Frontal cortex (12.0), Liver, secretome (7.4), and Retina (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for QDPR Gene



SOURCE GeneReport for Unigene cluster for QDPR Gene Hs.75438

genes like me logo Genes that share expression patterns with QDPR: view

Protein tissue co-expression partners for QDPR Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for QDPR Gene

Orthologs for QDPR Gene

This gene was present in the common ancestor of animals.

Orthologs for QDPR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia QDPR 35
  • 87.17 (n)
  • 92.89 (a)
QDPR 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia QDPR 35
  • 90.18 (n)
  • 96.27 (a)
QDPR 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Qdpr 35
  • 88.61 (n)
  • 94.51 (a)
Qdpr 16
Qdpr 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia QDPR 35
  • 99.18 (n)
  • 97.95 (a)
QDPR 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Qdpr 35
  • 87.62 (n)
  • 95.78 (a)
oppossum
(Monodelphis domestica)
Mammalia QDPR 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia QDPR 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves QDPR 35
  • 75.74 (n)
  • 81.7 (a)
QDPR 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia QDPR 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia qdpr 35
  • 68.08 (n)
  • 70.76 (a)
Str.6689 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16704 35
zebrafish
(Danio rerio)
Actinopterygii Dr.19525 35
qdprb1 35
  • 67.38 (n)
  • 72.53 (a)
QDPR (7 of 7) 36
  • 58 (a)
OneToMany
qdpra 36
  • 70 (a)
OneToMany
qdprb1 36
  • 71 (a)
OneToMany
qdprb2 36
  • 58 (a)
OneToMany
qdprb2 36
  • 57 (a)
OneToMany
qdprb2 36
  • 56 (a)
OneToMany
qdprb2 36
  • 56 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10724 35
fruit fly
(Drosophila melanogaster)
Insecta Dhpr 37
  • 58 (a)
Dhpr 35
  • 61.35 (n)
  • 59.48 (a)
Dhpr 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002534 35
  • 58.88 (n)
  • 58.59 (a)
worm
(Caenorhabditis elegans)
Secernentea T03F6.1 37
  • 51 (a)
qdpr-1 35
  • 50.87 (n)
  • 51.3 (a)
qdpr-1 36
  • 50 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.788 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2743 36
  • 55 (a)
OneToOne
Species with no ortholog for QDPR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for QDPR Gene

ENSEMBL:
Gene Tree for QDPR (if available)
TreeFam:
Gene Tree for QDPR (if available)

Paralogs for QDPR Gene

No data available for Paralogs for QDPR Gene

Variants for QDPR Gene

Sequence variations from dbSNP and Humsavar for QDPR Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_006960 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
VAR_006961 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
VAR_006962 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
VAR_006963 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
VAR_006965 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)

Variation tolerance for QDPR Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for QDPR Gene

HapMap Linkage Disequilibrium report
QDPR
Human Gene Mutation Database (HGMD)
QDPR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for QDPR Gene

Disorders for QDPR Gene

MalaCards: The human disease database

(19) MalaCards diseases for QDPR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperphenylalaninemia, bh4-deficient, c
  • dihydropteridine reductase deficiency
phenylketonuria
  • følling's disease
hyperphenylalaninemia
  • hpa
gtp cyclohydrolase i deficiency
  • hyperphenylalaninemia, bh4-deficient, b
hypokalemic periodic paralysis, type 2
  • hypokalemic periodic paralysis type 2
- elite association - COSMIC cancer census association via MalaCards
Search QDPR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DHPR_HUMAN
  • Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]: Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated. {ECO:0000269 PubMed:10408783, ECO:0000269 PubMed:11153907, ECO:0000269 PubMed:2116088, ECO:0000269 PubMed:8326489, ECO:0000269 PubMed:9744478}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for QDPR Gene

hyperphenylalaninemia,malignant phenylketonuria with neurologic deterioration

Relevant External Links for QDPR

Genetic Association Database (GAD)
QDPR
Human Genome Epidemiology (HuGE) Navigator
QDPR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
QDPR
genes like me logo Genes that share disorders with QDPR: view

Publications for QDPR Gene

  1. Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). (PMID: 11153907) Romstad A. … Guettler F. (Hum. Genet. 2000) 3 4 23 67
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  3. Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population. (PMID: 17188538) Farrugia R. … Felice A.E. (Mol. Genet. Metab. 2007) 3 23
  4. Perturbed 6-tetrahydrobiopterin recycling via decreased dihydropteridine reductase in vitiligo: more evidence for H2O2 stress. (PMID: 15009710) Hasse S. … Schallreuter K.U. (J. Invest. Dermatol. 2004) 3 23
  5. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients]. (PMID: 11937441) Dhondt J.L. … Hayte J.M. (Ann. Biol. Clin. (Paris) 2002) 3 23

Products for QDPR Gene

Sources for QDPR Gene

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