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Description for Protein SPR

sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.1.1.153
    KEGG - Orthology:
    K00072
    KEGG - Pathway(s):
    hsa00790; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    -
    Approved Symbol:
    SPR
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • 2'-Monophosphoadenosine 5'-Diphosphoribose(db);
  • Biopterin(db);
  • N-Acetyl Serotonin(db);
  • Oxaloacetate Ion(db)

    Associated Genetic Diseases:

  • Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01632 Entrez Gene ID: 6697 OMIM ID: 182125 Swissprot Accession: P35270;