Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SPR Gene

Aliases for SPR Gene

  • Sepiapterin Reductase (7,8-Dihydrobiopterin:NADP+ Oxidoreductase) 2 3
  • EC 1.1.1.153 4 64
  • Short Chain Dehydrogenase/Reductase Family 38C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 38C 2
  • Sepiapterin Reductase 3
  • Member 1 2
  • SDR38C1 3

External Ids for SPR Gene

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 cervical dystonia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include NADP binding and sepiapterin reductase 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

Genomic Location for SPR Gene

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

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys240

Other Protein References for SPR Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for SPR Gene

Gene Families for SPR Gene

HGNC:
  • SDRC1 :Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1

UniProtKB/Swiss-Prot:

SPRE_HUMAN
Family:
  • Belongs to the sepiapterin reductase family.:
    • P35270
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:

miRNA for SPR Gene

miRTarBase miRNAs that target SPR

No data available for Transcription Factor Targeting 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
cytosol 4
nucleus 4
mitochondrion 2
extracellular 1
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SPR: view

Pathways 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:0016265 death IEA --
genes like me logo Genes that share ontologies with SPR: view

Compounds for SPR Gene

(9) HMDB Compounds for SPR Gene

Compound Synonyms Cas Number PubMed IDs
1-hydroxy-2-Oxopropyl tetrahydropterin
Not Available
6-Lactoyltetrahydropterin
  • 6-Lactoyl tetrahydropterin
33405-80-0
Dihydrobiopterin
  • (S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone
6779-87-9
Dyspropterin
  • 6-(1,2-dioxopropyl)-5,6,7,8-tetrahydropterin
89687-39-8
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8

(4) Drugbank Compounds for SPR Gene

(17) Novoseek inferred chemical compound relationships for SPR Gene

Compound -log(P) Hits PubMed IDs
sepiapterin 99.1 111
6-pyruvoyltetrahydropterin 97.4 20
tetrahydrobiopterin 95.1 32
dihydropteridine 92.5 8
dihydroneopterin triphosphate 89.1 1
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:

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 (4.5).

Integrated Proteomics: protein expression 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 expressions with SPR: view

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
chimpanzee
(Pan troglodytes)
Mammalia SPR 36
  • 97.7 (n)
  • 96.91 (a)
SPR 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPR 36
  • 85.84 (n)
  • 81.47 (a)
SPR 37
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPR 36
  • 85.1 (n)
  • 82.35 (a)
SPR 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spr 36
  • 79.2 (n)
  • 74.81 (a)
Spr 16
Spr 37
  • 74 (a)
OneToMany
Spr-ps1 37
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 54 (a)
OneToMany
-- 37
  • 71 (a)
OneToMany
-- 37
  • 68 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Spr 36
  • 78.72 (n)
  • 75 (a)
chicken
(Gallus gallus)
Aves SPR 36
  • 68.12 (n)
  • 65.08 (a)
SPR 37
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPR 37
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia spr-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia spr 36
  • 60.44 (n)
  • 58.75 (a)
zebrafish
(Danio rerio)
Actinopterygii spra 36
  • 60.78 (n)
  • 52.94 (a)
spra 37
  • 51 (a)
OneToMany
sprb 37
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008000 36
  • 50.8 (n)
  • 39.2 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12116 37
  • 26 (a)
OneToMany
Sptr 36
  • 47.2 (n)
  • 35.6 (a)
Sptr 37
  • 32 (a)
OneToMany
Sptr 38
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
  • 28 (a)
OneToMany
IRC24 37
  • 27 (a)
OneToMany
IRC24 39
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

Relevant External Links for SPR Gene

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

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

Disorders for SPR Gene

(1) OMIM Diseases for SPR Gene (182125)

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.

(1) University of Copenhagen DISEASES for SPR Gene

(3) Novoseek inferred disease relationships for SPR Gene

Disease -log(P) Hits PubMed IDs
hyperphenylalaninemia 87.9 4
motor disorder 43 1
parkinson disease 35 6

Relevant External Links for SPR

Genetic Association Database (GAD)
SPR
Human Genome Epidemiology (HuGE) Navigator
SPR
genes like me logo Genes that share disorders with SPR: view

Publications for SPR Gene

  1. 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 3 4 23
  2. Detection of a novel sepiapterin reductase mRNA: assay of mRNA in various cells and tissues of various species. (PMID: 8440319) Maier J. … Ziegler I. (Exp. Cell Res. 1993) 3 4 23
  3. Genomic organization and chromosomal localization of the human sepiapterin reductase gene. (PMID: 9792819) Ohye T. … Ichinose H. (Biochem. Biophys. Res. Commun. 1998) 3 4 23
  4. Mutational analysis of sites in sepiapterin reductase phosphorylated by Ca2+/calmodulin-dependent protein kinase II. (PMID: 11825621) Fujimoto K. … Katoh S. (Biochim. Biophys. Acta 2002) 3 4 23
  5. The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. (PMID: 16443856) Sharma M. … Gasser T. (J. Med. Genet. 2006) 3 23 49

Products for SPR Gene

Sources for SPR Gene

Back to Top

Content