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Description for Protein MYOF

myoferlin
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • C2: Protein kinase C conserved region 2 (CalB)
  • NLS: Nuclear localization signal
  • TM: Transmembrane domain
  • SH3: Src homology 3 domains
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Fer-1-like 3, myoferlin; MYOF; Myoferlin isoform b; Myoferlin isoform a
    Approved Symbol:
    MYOF
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 21
    Human (de-) phosphorylation sites: 21; 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:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 06857 Entrez Gene ID: 26509 OMIM ID: 604603 Swissprot Accession: Q9NZM1;