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Aliases for SPR Gene

Aliases for SPR Gene

  • Sepiapterin Reductase (7,8-Dihydrobiopterin:NADP+ Oxidoreductase) 2 3
  • EC 1.1.1.153 4 63
  • Short Chain Dehydrogenase/Reductase Family 38C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 38C 2
  • Member 1 2
  • SDR38C1 3

External Ids for SPR Gene

Previous GeneCards Identifiers for SPR Gene

  • GC02P073124
  • GC02P073325
  • GC02P073089
  • GC02P073026
  • GC02P072968

Summaries for SPR Gene

Entrez Gene Summary for SPR Gene

  • This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]

GeneCards Summary for SPR Gene

SPR (Sepiapterin Reductase (7,8-Dihydrobiopterin:NADP+ Oxidoreductase)) is a Protein Coding gene. Diseases associated with SPR include dystonia, dopa-responsive, due to sepiapterin reductase deficiency and tetrahydrobiopterin deficiency. Among its related pathways are Metabolism and Folate biosynthesis. GO annotations related to this gene include oxidoreductase activity and aldo-keto reductase (NADP) activity.

UniProtKB/Swiss-Prot for SPR Gene

  • Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin

Gene Wiki entry for SPR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPR Gene

Genomics for SPR Gene

Regulatory Elements for SPR Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SPR Gene

Chromosome:
2
Start:
72,887,360 bp from pter
End:
72,892,160 bp from pter
Size:
4,801 bases
Orientation:
Plus strand

Genomic View for SPR Gene

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

RefSeq DNA sequence for SPR Gene

Proteins for SPR Gene

  • Protein details for SPR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35270-SPRE_HUMAN
    Recommended name:
    Sepiapterin reductase
    Protein Accession:
    P35270
    Secondary Accessions:
    • A8K741
    • D6W5H2
    • Q53GI9
    • Q9UBB1

    Protein attributes for SPR Gene

    Size:
    261 amino acids
    Molecular mass:
    28048 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for SPR Gene

neXtProt entry for SPR Gene

Proteomics data for SPR Gene at MOPED

Selected DME Specific Peptides for SPR Gene

Post-translational modifications for SPR Gene

  • In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters.
  • Ubiquitination at Lys 240
  • Modification sites at PhosphoSitePlus

Other Protein References for SPR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for SPR Gene

Suggested Antigen Peptide Sequences for SPR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35270

UniProtKB/Swiss-Prot:

SPRE_HUMAN :
  • Belongs to the sepiapterin reductase family.
Family:
  • Belongs to the sepiapterin reductase family.
genes like me logo Genes that share domains with SPR: view

Function for SPR Gene

Molecular function for SPR Gene

GENATLAS Biochemistry:
sepiapterin reductase,catalyzing the final step of tetrahydrobiopterin (BH4) synthesis,cofactor for aromatic aminoacid hydroxylase and nitric oxid synthase
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=14.3 uM for sepiapterin {ECO:0000269 PubMed:11825621}; KM=10 uM for NADPH {ECO:0000269 PubMed:11825621};
UniProtKB/Swiss-Prot CatalyticActivity:
L-erythro-7,8-dihydrobiopterin + NADP(+) = sepiapterin + NADPH
UniProtKB/Swiss-Prot CatalyticActivity:
L-erythro-tetrahydrobiopterin + 2 NADP(+) = 6-pyruvoyl-5,6,7,8-tetrahydropterin + 2 NADPH
UniProtKB/Swiss-Prot Function:
Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin

Enzyme Numbers (IUBMB) for SPR Gene

Gene Ontology (GO) - Molecular Function for SPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004033 aldo-keto reductase (NADP) activity TAS 1883349
GO:0004757 sepiapterin reductase activity TAS --
GO:0016491 oxidoreductase activity --
GO:0050661 NADP binding TAS 1883349
genes like me logo Genes that share ontologies with SPR: view
genes like me logo Genes that share phenotypes with SPR: view

Animal Models for SPR Gene

MGI Knock Outs for SPR:

Animal Model Products

miRNA for SPR Gene

miRTarBase miRNAs that target SPR

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPR

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for SPR Gene

Localization for SPR Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPR Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPR Gene COMPARTMENTS Subcellular localization image for SPR gene
Compartment Confidence
extracellular 5
cytosol 4
nucleus 4
mitochondrion 2

Gene Ontology (GO) - Cellular Components for SPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SPR: view

Pathways & Interactions for SPR Gene

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

Interacting Proteins for SPR Gene

Gene Ontology (GO) - Biological Process for SPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006558 L-phenylalanine metabolic process IEA --
GO:0006729 tetrahydrobiopterin biosynthetic process TAS 1883349
GO:0006809 nitric oxide biosynthetic process IDA 15197144
GO:0008152 metabolic process --
GO:0019889 pteridine metabolic process IEA --
genes like me logo Genes that share ontologies with SPR: view

No data available for SIGNOR curated interactions for SPR Gene

Drugs & Compounds for SPR Gene

(13) Drugs for SPR Gene - From: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrahydrobiopterin Approved, Investigational Pharma 0
Dopamine Approved Pharma Full agonist, Agonist 2814
Nitric Oxide Approved Pharma 540
Norepinephrine Approved Pharma 206
Melatonin Approved Nutra Antagonist Melatonin receptors MT inhibitor 215

(15) Additional Compounds for SPR Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
Sepiapterin
  • (S)-2-amino-7,8-dihydro-6-(2-hydroxy-1-oxopropyl)-4(1H)-Pteridinone
  • 1-(2-Amino-7,8-dihydro-4-hydroxy-6-pteridinyl)-2-hydroxy-1-Propanone
  • 2-Amino-6-(S)-lactoyl-7,8-dihydro-4(3H)-pteridinone
  • 2-Amino-7,8-dihydro-6-[(2S)-2-hydroxy-1-oxopropyl]-4(1H)Pteridinone
  • L-Sepiapterin
17094-01-8
1-hydroxy-2-Oxopropyl tetrahydropterin
6-Lactoyltetrahydropterin
  • 6-Lactoyl tetrahydropterin
  • 6-Lactoyl-5,6,7,8-tetrahydropterin
  • Lactoyl-H4-pterin
  • Lactoyl-PH4
33405-80-0
Dyspropterin
  • 6-(1,2-Dioxopropyl)-5,6,7,8-tetrahydropterin
  • 6-Pyruvoyl-5,6,7,8-tetrahydropterin
  • 6-Pyruvoyl-tetrahydropterin
  • 6-Pyruvoyltetrahydropterin
  • Dyspropterin
89687-39-8
genes like me logo Genes that share compounds with SPR: view

Transcripts for SPR Gene

mRNA/cDNA for SPR Gene

Unigene Clusters for SPR Gene

Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPR

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPR Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c
SP1:
SP2: -
SP3: -

Relevant External Links for SPR Gene

GeneLoc Exon Structure for
SPR
ECgene alternative splicing isoforms for
SPR

Expression for SPR Gene

mRNA expression in normal human tissues for SPR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPR Gene

This gene is overexpressed in Liver (x4.5).

Protein differential expression in normal tissues from HIPED for SPR Gene

This gene is overexpressed in Bone (29.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPR Gene



SOURCE GeneReport for Unigene cluster for SPR Gene Hs.301540

genes like me logo Genes that share expression patterns with SPR: view

Protein tissue co-expression partners for SPR Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SPR Gene

Orthologs for SPR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SPR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPR 35
  • 85.84 (n)
  • 81.47 (a)
SPR 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPR 35
  • 85.1 (n)
  • 82.35 (a)
SPR 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spr 35
  • 79.2 (n)
  • 74.81 (a)
Spr 16
Spr 36
  • 74 (a)
OneToMany
Spr-ps1 36
  • 66 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia SPR 35
  • 97.7 (n)
  • 96.91 (a)
SPR 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spr 35
  • 78.72 (n)
  • 75 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 54 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves SPR 35
  • 68.12 (n)
  • 65.08 (a)
SPR 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPR 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spr 35
  • 60.44 (n)
  • 58.75 (a)
African clawed frog
(Xenopus laevis)
Amphibia spr-prov 35
zebrafish
(Danio rerio)
Actinopterygii spra 35
  • 60.78 (n)
  • 52.94 (a)
spra 36
  • 51 (a)
OneToMany
sprb 36
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sptr 37
  • 33 (a)
Sptr 35
  • 47.2 (n)
  • 35.6 (a)
CG12116 36
  • 26 (a)
OneToMany
Sptr 36
  • 32 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008000 35
  • 50.8 (n)
  • 39.2 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 28 (a)
OneToMany
IRC24 36
  • 27 (a)
OneToMany
IRC24 38
Species with no ortholog for SPR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SPR Gene

ENSEMBL:
Gene Tree for SPR (if available)
TreeFam:
Gene Tree for SPR (if available)

Paralogs for SPR Gene

Pseudogenes.org Pseudogenes for SPR Gene

genes like me logo Genes that share paralogs with SPR: view

No data available for Paralogs for SPR Gene

Variants for SPR Gene

Sequence variations from dbSNP and Humsavar for SPR Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1876487 -- 72,887,223(-) GGCGG(G/T)AGCCC upstream-variant-2KB
rs2421095 -- 72,886,395(+) AAGGC(A/G)GTAAC upstream-variant-2KB
rs6730083 -- 72,888,868(+) GAGAA(A/G)ACTGG intron-variant
rs6742728 -- 72,886,472(+) TTACT(G/T)CCCTT upstream-variant-2KB
rs10174540 -- 72,889,795(+) AAGGC(A/G)GAGGC intron-variant

Variation tolerance for SPR Gene

Residual Variation Intolerance Score: 41.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPR Gene

HapMap Linkage Disequilibrium report
SPR
Human Gene Mutation Database (HGMD)
SPR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SPR Gene

Disorders for SPR Gene

MalaCards: The human disease database

(6) MalaCards diseases for SPR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
dystonia, dopa-responsive, due to sepiapterin reductase deficiency
  • sepiapterin reductase deficiency
tetrahydrobiopterin deficiency
  • bh4 deficiency
hyperphenylalaninemia
  • hpa
hypersomnia
dystonia
  • dystonic disease
- elite association
Search SPR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPRE_HUMAN
  • Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]: A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. {ECO:0000269 PubMed:11443547, ECO:0000269 PubMed:16650784, ECO:0000269 PubMed:17159114}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SPR

Genetic Association Database (GAD)
SPR
Human Genome Epidemiology (HuGE) Navigator
SPR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPR
genes like me logo Genes that share disorders with SPR: view

No data available for Genatlas for SPR Gene

Publications for SPR Gene

  1. The pathway from GTP to tetrahydrobiopterin: three-dimensional structures of GTP cyclohydrolase I and 6-pyruvoyl tetrahydropterin synthase. (PMID: 9165069) Auerbach G. … Nar H. (Biol. Chem. 1997) 23 26 67
  2. Cloning and sequencing of cDNA encoding human sepiapterin reductase -- an enzyme involved in tetrahydrobiopterin biosynthesis. (PMID: 1883349) Ichinose H. … Nagatsu T. (Biochem. Biophys. Res. Commun. 1991) 2 23 67
  3. The tetrahydrobiopterin pathway and pain. (PMID: 20047156) Naylor A.M. … Blagg J. (Curr Opin Investig Drugs 2010) 23 67
  4. Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features. (PMID: 20222129) Wali G.M. … Blau N. (Mov. Disord. 2010) 23 67
  5. Sleep and rhythm consequences of a genetically induced loss of serotonin. (PMID: 20337188) Leu-Semenescu S. … Roze E. (Sleep 2010) 23 67

Products for SPR Gene

Sources for SPR Gene

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