Property Summary

NCBI Gene PubMed Count 49
PubMed Score 197.66
PubTator Score 162.32

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
malignant mesothelioma -2.900 2.4e-08
astrocytic glioma -1.500 4.0e-02
ependymoma -2.200 3.1e-02
glioblastoma multiforme -1.100 1.5e-08
oligodendroglioma -1.200 1.0e-10
group 4 medulloblastoma -1.900 1.0e-06
atypical teratoid/rhabdoid tumor -2.100 6.2e-10
medulloblastoma, large-cell -2.100 3.1e-07
primitive neuroectodermal tumor -1.200 6.4e-05
tuberculosis 1.300 4.1e-07
lung cancer 1.400 6.4e-03
adult high grade glioma -1.400 1.3e-03
subependymal giant cell astrocytoma -2.376 3.8e-03
nasopharyngeal carcinoma 1.100 6.4e-04
lung carcinoma 1.400 2.8e-18
ovarian cancer 1.300 6.5e-03

Protein-protein Interaction (2)

Gene RIF (14)

PMID Text
25124972 The mutation spectrum of the QDPR gene is different in the Chinese population. Most mutations are related to severe phenotype.
22020936 JP1 and JP2 can facilitate the assembly of DHPR with other proteins of the excitation-contraction coupling machinery
21239886 the electrostatic regulatory interaction between the SPRY2 F loop residues (that bind to imperatoxin A) and the ASI/basic residues of RyR1 does not influence bi-directional DHPR-RyR1 signaling during skeletal EC coupling
20877624 Observational study of gene-disease association. (HuGE Navigator)
20471030 This protein has been found differentially expressed in thalami from patients with schizophrenia.
20468064 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19674121 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19491146 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19405953 This protein has been found differentially expressed in the Wernicke's Area from patients with schizophrenia.
18444252 Observational study of gene-disease association. (HuGE Navigator)
18425437 Report suggests that serum prolactin levels can be a good biomarker for optimal dosage of hydroxylated precursors in long-term treatment monitoring for DHPR-deficient patients.
15009710 less than 30 microM H2O2 increase DHPR activities, whereas levels greater than 30 microM H2O2 deactivate the enzyme based on the oxidation of Met146 and Met151 in the sequence, consequently leading to disruption of the NADH-dependent enzyme active site.

AA Sequence

MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAE      1 - 70
VGKLLGEEKVDAILCVAGGWAGGNAKSKSLFKNCDLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAA     71 - 140
LDGTPGMIGYGMAKGAVHQLCQSLAGKNSGMPPGAAAIAVLPVTLDTPMNRKSMPEADFSSWTPLEFLVE    141 - 210
TFHDWITGKNRPSSGSLIQVVTTEGRTELTPAYF                                        211 - 244
//

Text Mined References (56)

PMID Year Title
25124972 2014 QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22020936 2011 Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.
21269460 2011 Initial characterization of the human central proteome.
21239886 The elusive role of the SPRY2 domain in RyR1.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20471030 2010 Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
20468064 2010 Association study of 182 candidate genes in anorexia nervosa.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
19674121 2009 Examination of tetrahydrobiopterin pathway genes in autism.
19491146 2009 Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19405953 2009 Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
19027726 2009 The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
18444252 2008 Neurotransmission and bipolar disorder: a systematic family-based association study.
18425437 2008 Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
17188538 2007 Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
16381901 2006 The LIFEdb database in 2006.
16341674 2005 Transcriptome analysis of human gastric cancer.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15009710 2004 Perturbed 6-tetrahydrobiopterin recycling via decreased dihydropteridine reductase in vitiligo: more evidence for H2O2 stress.
14718574 2004 The human plasma proteome: a nonredundant list developed by combination of four separate sources.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11937441 [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11153907 2000 Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).
11076863 2000 DNA cloning using in vitro site-specific recombination.
10408783 1999 A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.
9744478 1998 Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
9427141 1997 Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer.
8326489 1993 Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
8262916 1993 The crystallographic structure of a human dihydropteridine reductase NADH binary complex expressed in Escherichia coli by a cDNA constructed from its rat homologue.
8137944 1994 Phosphorylation by Ca2+/calmodulin-dependent protein kinase II and protein kinase C of sepiapterin reductase, the terminal enzyme in the biosynthetic pathway of tetrahydrobiopterin.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7744010 1995 Three-dimensional structure of the bifunctional protein PCD/DCoH, a cytoplasmic enzyme interacting with transcription factor HNF1.
7627180 1995 Molecular basis of dihydropteridine reductase deficiency.
6797415 1981 Molecular and immunological comparison of human dihydropteridine reductase in liver, cultured fibroblasts and continuous lymphoid cells.
6746636 1984 Inhibition of dihydropteridine reductase from human liver and rat striatal synaptosomes by apomorphine and its analogs.
3718470 1986 New pteridine substrates for dihydropteridine reductase and horseradish peroxidase.
3711039 1986 Purification and physicochemical properties of NADPH-specific dihydropteridine reductase from bovine and human livers.
3666748 1987 Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization.
3587329 1987 Serum aluminum levels and erythrocyte dihydropteridine reductase activity in patients on hemodialysis.
3033643 1987 Structure and expression of human dihydropteridine reductase.
3031582 1987 Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
2330583 1990 Probable assignment of the dihydropteridine reductase gene to 4p15.31.
2116088 1990 Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.
1160969 1975 Phenylketonuria due to a deficiency of dihydropteridine reductase.