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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 61
  • SDR33C1 3 4
  • HDHPR 3 4
  • DHPR 3 4
  • Short Chain Dehydrogenase/Reductase Family 33C, Member 1 2
  • Testis Secretory Sperm-Binding Protein Li 236P 3
  • Dihydropteridine Reductase 3
  • 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

Enhancers for QDPR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F017510 0.6 ENCODE 45.8 +0.6 621 2.6 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF143 ZNF263 SP5 REST QDPR GC04M017492
GH04F017548 0.5 Ensembl ENCODE 17.4 -37.1 -37126 1.3 CTCF IRF2 SAP130 HINFP ARID4B RAD21 TEAD3 ZNF316 POLR2A SMC3 QDPR NCAPG DCAF16 LOC105374508 MED28 GC04M017552 CLRN2
GH04F017481 0.4 FANTOM5 16.4 +30.1 30071 0.4 QDPR CLRN2 GC04M017492 GC04P017443
GH04F017490 0.6 ENCODE 15.9 +21.8 21770 0.9 ELF3 PKNOX1 ARID4B THRB RAD21 RARA YY1 GATA4 GATA2 CREM QDPR CLRN2 ENSG00000206780 GC04M017492 GC04P017443
GH04F017476 0.2 Ensembl 15.8 +35.3 35334 1.0 TFAP4 POLR2A SP5 GLIS1 QDPR GC04M017492 GC04P017443
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around QDPR on UCSC Golden Path with GeneCards custom track

Promoters for QDPR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001237525 334 1801 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF143 ZNF263 REST SMARCB1

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

Selected DME Specific Peptides for QDPR Gene

P09417:
  • WTSTISSHLATKHLKEGGLLTLAGA
  • LPVTLDTP
  • SGSLIQVVTT
  • KVDAILCVAGGWAGGNAKSKSLFKNCD
  • ADFSSWTPLEFLVETFHDWI
  • AVHQLCQSLAGK
  • AALDGTPGMIGYGMAK

Post-translational modifications for QDPR Gene

  • Ubiquitination at Lys 138
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for QDPR

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,IEA 3033643
GO:0009055 electron carrier activity TAS 3033643
GO:0016491 oxidoreductase activity IEA --
GO:0042803 protein homodimerization activity IEA --
GO:0070402 NADPH 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

  • Taconic Biosciences Mouse Models for QDPR

miRNA for QDPR Gene

miRTarBase miRNAs that target QDPR

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for QDPR

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for QDPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0043005 neuron projection IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with QDPR: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0006559 L-phenylalanine catabolic process TAS --
GO:0006729 tetrahydrobiopterin biosynthetic process IEA --
GO:0010044 response to aluminum ion IEA --
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

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

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

(28) 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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for QDPR

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for QDPR Gene



Protein tissue co-expression partners for QDPR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of QDPR Gene:

QDPR

SOURCE GeneReport for Unigene cluster for QDPR Gene:

Hs.75438
genes like me logo Genes that share expression patterns with QDPR: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia QDPR 34 35
  • 99.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia QDPR 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia QDPR 34 35
  • 90.18 (n)
oppossum
(Monodelphis domestica)
Mammalia QDPR 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Qdpr 34 16 35
  • 88.61 (n)
rat
(Rattus norvegicus)
Mammalia Qdpr 34
  • 87.62 (n)
cow
(Bos Taurus)
Mammalia QDPR 34 35
  • 87.17 (n)
chicken
(Gallus gallus)
Aves QDPR 34 35
  • 75.74 (n)
lizard
(Anolis carolinensis)
Reptilia QDPR 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia qdpr 34
  • 68.08 (n)
Str.6689 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16704 34
zebrafish
(Danio rerio)
Actinopterygii qdpra 35
  • 70 (a)
OneToMany
qdprb1 34 35
  • 67.38 (n)
QDPR (7 of 7) 35
  • 58 (a)
OneToMany
qdprb2 35 35 35 35
  • 58 (a)
OneToMany
Dr.19525 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10724 34
fruit fly
(Drosophila melanogaster)
Insecta Dhpr 36 34 35
  • 61.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002534 34
  • 58.88 (n)
worm
(Caenorhabditis elegans)
Secernentea T03F6.1 36
  • 51 (a)
qdpr-1 34 35
  • 50.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2743 35
  • 55 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.788 34
Species where no ortholog for QDPR was found in the sources mined by GeneCards:
  • 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
rs104893863 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630], Pathogenic 17,511,987(-) TCTGG(A/G)TTCTC nc-transcript-variant, reference, missense
rs104893864 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630], Pathogenic 17,501,833(-) TGATG(G/T)GGAAG nc-transcript-variant, reference, missense
rs104893865 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630], Pathogenic 17,509,363(-) TCCAG(C/T)GGGTT intron-variant, nc-transcript-variant, reference, missense
rs104893866 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630], Pathogenic 17,492,328(-) CGGGT(A/G)CGGCA intron-variant, reference, missense
rs750201480 Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630] 17,492,305(+) CTGGT(A/G)AACAG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for QDPR Gene

Variant ID Type Subtype PubMed ID
nsv1003127 CNV gain 25217958
nsv593781 CNV gain 21841781

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

Human Gene Mutation Database (HGMD)
QDPR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
QDPR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for QDPR Gene

Disorders for QDPR Gene

MalaCards: The human disease database

(20) 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
  • hyperphenylalaninemia, non-phenylketonuric
malignant hyperthermia
  • anesthesia related hyperthermia
gtp cyclohydrolase i deficiency
  • hyperphenylalaninemia, bh4-deficient, b
- 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 22 64
  2. A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. (PMID: 10408783) Smooker P.M. … Dianzani I. (Hum. Mutat. 1999) 3 4 22 64
  3. Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. (PMID: 9744478) Dianzani I. … Cotton R.G.H. (Hum. Mutat. 1998) 3 4 22 64
  4. Molecular basis of dihydropteridine reductase deficiency. (PMID: 7627180) Smooker P.M. … Cotton R.G.H. (Hum. Mutat. 1995) 3 4 22 64
  5. Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. (PMID: 8326489) Dianzani I. … Cotton R.G.H. (J. Med. Genet. 1993) 3 4 22 64

Products for QDPR Gene

  • Cloud-Clone Corp. Antibodies for QDPR
  • Cloud-Clone Corp. Proteins for QDPR
  • Cloud-Clone Corp Assay Kits for QDPR

Sources for QDPR Gene

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