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Description for Protein LMAN1

lectin, mannose-binding, 1
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 4/1)
(membrane: 2; platelet: 2; undefined: 1)
Summary:
The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • CC: Coiled Coil
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10080
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    MR60 Intracellular mannose specific lectin; Endoplasmic reticulum-golgi intermediate compartment 53; ERGIC53; ER-Golgi intermediate compartment 53 kDa protein; Gp58; Intracellular mannose specific lectin MR60; ERGIC 53 protein
    Approved Symbol:
    LMAN1
    (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):

  • Antihemophilic Factor(db)

    Associated Genetic Diseases:

  • Factor V and Factor VIII, combined deficiency of, middle eastern jewish type(Pd);
  • Factor V and Factor VIII, combined deficiency of, sephardic jewish type(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 03338 Entrez Gene ID: 3998 OMIM ID: 601567 Swissprot Accession: P49257;