Property Summary

NCBI Gene PubMed Count 38
PubMed Score 35.26
PubTator Score 704.83

Knowledge Summary


No data available


  Disease (5)

Disease Target Count P-value
osteosarcoma 7933 5.5e-06
Disease Target Count Z-score Confidence
Dystonia 77 4.235 2.1
Disease Target Count Z-score Confidence
Phenylketonuria 18 4.062 2.0
Disease Target Count
Sepiapterin reductase deficiency 1


  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.457 5.5e-06

Gene RIF (18)

26093909 We earlier presented evidence for a physical interaction between ODC and SPR and we showed that RNAi-mediated knockdown of SPR expression significantly reduced native ODC enzyme activity and impeded Neuroblastoma cell proliferation.
24588500 new homozygous mutation in the SPR gene was found in two sisters with dopa-responsive dystonia
24096079 Authors identified SPR as a novel regulator of ODC enzyme activity and, based on clinical evidence, present a model in which SPR drives ODC-mediated malignant progression in neuroblastoma.
23640889 SPR-mediated reduction of sepiapterin and redox cycling occur by distinct mechanisms
22018912 SRD can manifest as early-onset parkinsonism, widening the spectrum of the disease phenotype and adding to the genetic heterogeneity of the disease
21782285 this large association study for the SPR gene revealed no association for Parkinson disease worldwide.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20337188 We examine the sleep, sleep-wake rhythms, CSF neurotransmitters, and melatonin profile in a patient with sepiapterin reductase deficiency.
20038947 Observational study, meta-analysis, 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)
19415819 This reduced transcription rate for SPR promoter haplotypes 2 and 3 may impact on antidepressant response and susceptibility to bipolar disorder.
19415819 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18502672 Genomic DNA revealed the same homozygous point mutation introducing a premature stop codon in the SPR gene in 2 siblings.
17270157 Although association of SPR to Parkinson's disease (PD) is not strong enough to support that this is the PARK3 gene, this study further implicates a role for SPR in idiopathic PD.
16443856 Observational study of gene-disease association. (HuGE Navigator)
16443856 Potentially modulates the onset of or risk for Parkinson's disease.
15241655 haploinsufficiency of SPR can be a rare cause of dopa-responsive dystonia

AA Sequence


Text Mined References (43)

PMID Year Title
26093909 2015 Effect of sulfasalazine on human neuroblastoma: analysis of sepiapterin reductase (SPR) as a new therapeutic target.
24588500 2014 Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24096079 2014 Novel interaction of ornithine decarboxylase with sepiapterin reductase regulates neuroblastoma cell proliferation.
23640889 2013 Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells.
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.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22018912 2012 A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
21782285 2011 Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20337188 2010 Sleep and rhythm consequences of a genetically induced loss of serotonin.
20038947 2011 Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.
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.
19415819 2009 Polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
19027726 2009 The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
18502672 2008 Two Greek siblings with sepiapterin reductase deficiency.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17270157 2007 Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.
17188538 2007 Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
17159114 2006 Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.
16650784 Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
16443856 2006 The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15241655 2004 Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.
15197144 2004 Functional tetrahydrobiopterin synthesis in human platelets.
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.
11825621 2002 Mutational analysis of sites in sepiapterin reductase phosphorylated by Ca2+/calmodulin-dependent protein kinase II.
11443547 2001 Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
10384371 1999 Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.
9792819 1998 Genomic organization and chromosomal localization of the human sepiapterin reductase gene.
9700606 1998 Dihydropteridine reductase deficiency localized to the central nervous system.
8440319 1993 Detection of a novel sepiapterin reductase mRNA: assay of mRNA in various cells and tissues of various species.
8304109 1993 Northern blot analysis of sepiapterin reductase mRNA in mammalian cell lines and tissues.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7782081 1995 Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization.
3536512 1986 Biosynthesis of tetrahydrobiopterin. Purification and characterization of 6-pyruvoyl-tetrahydropterin synthase from human liver.
1883349 1991 Cloning and sequencing of cDNA encoding human sepiapterin reductase--an enzyme involved in tetrahydrobiopterin biosynthesis.