Property Summary

NCBI Gene PubMed Count 38
PubMed Score 35.26
PubTator Score 704.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
osteosarcoma 7933 5.52833141083707E-6
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

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.457 0.000

Synonym

Accession P35270 A8K741 D6W5H2 Q53GI9 Q9UBB1 SPR
Symbols SDR38C1

Gene

SPR

PANTHER Protein Class (2)

PDB

1Z6Z   4HWK   4J7U   4J7X   4XWY   4Z3K  

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG
Zebrafish OMA EggNOG
Zebrafish OMA Inparanoid
Fruitfly EggNOG Inparanoid

Gene RIF (18)

PMID Text
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)
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AA Sequence

MEGGLGRAVCLLTGASRGFGRTLAPLLASLLSPGSVLVLSARNDEALRQLEAELGAERSGLRVVRVPADL      1 - 70
GAEAGLQQLLGALRELPRPKGLQRLLLINNAGSLGDVSKGFVDLSDSTQVNNYWALNLTSMLCLTSSVLK     71 - 140
AFPDSPGLNRTVVNISSLCALQPFKGWALYCAGKAARDMLFQVLALEEPNVRVLNYAPGPLDTDMQQLAR    141 - 210
ETSVDPDMRKGLQELKAKGKLVDCKVSAQKLLSLLEKDEFKSGAHVDFYDK                       211 - 261
//

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.
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