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Aliases for QDPR Gene

Aliases for QDPR Gene

  • Quinoid Dihydropteridine Reductase 2 3 4
  • DHPR 3 4 6
  • Short Chain Dehydrogenase/Reductase Family 33C Member 1 3 4
  • 6,7-Dihydropteridine Reductase 2 3
  • EC 1.5.1.34 4 64
  • SDR33C1 3 4
  • HDHPR 3 4
  • Short Chain Dehydrogenase/Reductase Family 33C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 33C 2
  • Dihydropteridine Reductase 3
  • Member 1 2
  • PKU2 3

External Ids for QDPR Gene

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 tetrahydrobiopterin deficiency. Among its related pathways are CREB Pathway and Metabolism. GO annotations related to this gene include protein homodimerization activity and NADPH binding.

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

Genomic Location for QDPR Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for QDPR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for QDPR Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys138

Other Protein References for QDPR Gene

Domains for QDPR Gene

Gene Families for QDPR Gene

HGNC:
  • SDRA :Short chain dehydrogenase/reductase superfamily / Atypical members

Protein Domains for QDPR Gene

UniProtKB/Swiss-Prot:

DHPR_HUMAN
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.:
    • P09417
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 --
GO:0009055 electron carrier activity TAS 3033643
GO:0016491 oxidoreductase activity --
GO:0042803 protein homodimerization activity IEA --
GO:0070402 NADPH binding IEA --
genes like me logo Genes that share ontologies with QDPR: view

Phenotypes for QDPR Gene

MGI mutant phenotypes for QDPR:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with QDPR: view

Animal Models for QDPR Gene

MGI Knock Outs for QDPR:

miRNA for QDPR Gene

miRTarBase miRNAs that target QDPR

No data available for Transcription Factor Targeting 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 4
endoplasmic reticulum 3
mitochondrion 2
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

Pathways for QDPR Gene

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

Pathways by source for QDPR Gene

1 Qiagen pathway for QDPR Gene
2 BioSystems pathways for QDPR Gene

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:0008152 metabolic process --
genes like me logo Genes that share ontologies with QDPR: view

Compounds for QDPR Gene

(9) HMDB Compounds for QDPR Gene

Compound Synonyms Cas Number PubMed IDs
Dihydrobiopterin
  • (S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone
6779-87-9
Dihydropteridine
  • 6,7-dihydropteridine
Not Available
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8

(3) Drugbank Compounds for QDPR Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-(N-Morpholino)-Ethanesulfonic Acid
target
NADH
  • beta-DPNH
606-68-8 target
Nicotinamide-Adenine-Dinucleotide
53-84-9 target

(47) Novoseek inferred chemical compound relationships for QDPR Gene

Compound -log(P) Hits PubMed IDs
dihydropteridine 99.3 150
6-pyruvoyltetrahydropterin 94.9 15
dihydropyridine 93.3 69
tetrahydrobiopterin 92.6 31
7-biopterin 88.8 1
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 (6.8), Brain - Spinal cord (cervical c-1) (6.5), Brain - Putamen (basal ganglia) (4.4), Brain - Hippocampus (4.2), and Brain - Amygdala (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for QDPR Gene

SOURCE GeneReport for Unigene cluster for QDPR Gene Hs.75438

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

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 36
  • 99.18 (n)
  • 97.95 (a)
QDPR 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia QDPR 36
  • 87.17 (n)
  • 92.89 (a)
QDPR 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia QDPR 36
  • 90.18 (n)
  • 96.27 (a)
QDPR 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Qdpr 36
  • 88.61 (n)
  • 94.51 (a)
Qdpr 16
Qdpr 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia QDPR 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia QDPR 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Qdpr 36
  • 87.62 (n)
  • 95.78 (a)
chicken
(Gallus gallus)
Aves QDPR 36
  • 75.74 (n)
  • 81.7 (a)
QDPR 37
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia QDPR 37
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16704 36
tropical clawed frog
(Silurana tropicalis)
Amphibia qdpr 36
  • 68.08 (n)
  • 70.76 (a)
Str.6689 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10724 36
zebrafish
(Danio rerio)
Actinopterygii Dr.19525 36
QDPR (7 of 7) 37
  • 58 (a)
OneToMany
qdpra 37
  • 70 (a)
OneToMany
qdprb1 36
  • 67.38 (n)
  • 72.53 (a)
qdprb1 37
  • 71 (a)
OneToMany
qdprb2 37
  • 58 (a)
OneToMany
qdprb2 37
  • 57 (a)
OneToMany
qdprb2 37
  • 56 (a)
OneToMany
qdprb2 37
  • 56 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002534 36
  • 58.88 (n)
  • 58.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta Dhpr 36
  • 61.35 (n)
  • 59.48 (a)
Dhpr 37
  • 58 (a)
OneToOne
Dhpr 38
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea qdpr-1 36
  • 50.87 (n)
  • 51.3 (a)
qdpr-1 37
  • 50 (a)
OneToOne
T03F6.1 38
  • 51 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.788 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2743 37
  • 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 MAF
rs10604 -- 17,486,509(-) TCTTA(C/T)ATACA utr-variant-3-prime, nc-transcript-variant
rs699459 -- 17,486,449(+) GAACA(C/T)CAGAT utr-variant-3-prime, nc-transcript-variant
rs699460 -- 17,486,663(+) CCATG(G/T)AGTTT utr-variant-3-prime, nc-transcript-variant
rs731437 -- 17,490,522(+) TGCAA(C/T)GCATC intron-variant
rs744729 -- 17,490,450(+) ATGTC(C/G)GCACT intron-variant

Relevant External Links for QDPR Gene

HapMap Linkage Disequilibrium report
QDPR
Human Gene Mutation Database (HGMD)
QDPR
Locus Specific Mutation Databases (LSDB)
QDPR

No data available for Structural Variations from Database of Genomic Variants (DGV) for QDPR Gene

Disorders for QDPR Gene

(1) OMIM Diseases for QDPR Gene (612676)

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.

(3) University of Copenhagen DISEASES for QDPR Gene

(18) Novoseek inferred disease relationships for QDPR Gene

Disease -log(P) Hits PubMed IDs
hyperphenylalaninemia 95 17
gtp cyclohydrolase i deficiency 85.6 2
phenylketonuria atypical 84.3 2
phenylketonuria classical 80.6 4
phenylketonurias 79.4 8

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

Publications for QDPR Gene

  1. Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. (PMID: 2116088) Howells D.W. … Cotton R.G.H. (Am. J. Hum. Genet. 1990) 3 4 23
  2. Molecular basis of dihydropteridine reductase deficiency. (PMID: 7627180) Smooker P.M. … Cotton R.G.H. (Hum. Mutat. 1995) 3 4 23
  3. 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 23
  4. 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 23
  5. 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

Products for QDPR Gene

Sources for QDPR Gene

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