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Description for Protein PUS1

pseudouridylate synthase 1
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(secretome: 1)
Summary:
This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
5.4.99.12
KEGG - Orthology:
K06173
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
MLASA; MGC11268; Pseudouridylate synthase 1; Pseudouridylate synthase 1 isoform 2; tRNA pseudouridylate synthase I; Pseudouridylate synthase 1 isoform 1; tRNA pseudouridine synthase A; EC 5.4.99.12; tRNA uridine isomerase I
Approved Symbol:
PUS1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 10
Human (de-) phosphorylation sites: 10; 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):

None Available

Associated Genetic Diseases:

  • Mitochondrial myopathy and sideroblastic anemia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 10481 Entrez Gene ID: 80324 OMIM ID: 608109 Swissprot Accession: Q9Y606;