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Description for Protein MPDU1

mannose-P-dolichol utilization defect 1
7 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(membrane: 1; platelet: 1)
Summary:
This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • CTNS: Repeated motif present between transmembrane helices in cystinosin, yeast ERS1p, mannose-P-dolichol utilization defect 1, and other hypothetical proteins.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09660
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Suppressor of Lec15 and Lec35 glycosylation mutation homolog; Mannose-P-dolichol utilization defect 1; Lec35; SL15
    Approved Symbol:
    MPDU1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

  • Congenital disorder of glycosylation, type If(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 6
    • Additional Identifiers:

    HPRD: 04951 Entrez Gene ID: 9526 OMIM ID: 604041 Swissprot Accession: O75352;