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FLASH GENE
Symbol MYOF contributors: mct/npt/shn - updated : 17/05/2013
HGNC name myoferlin
HGNC id 3656
Location 10q23.33      Physical location : 95.066.186 - 95.242.074
Synonym name
  • fer-1-like 3, myoferlin (C. elegans)
  • dysferlin homolog
  • Fer-1-like protein 3 myoferlin (C. elegans)
  • Synonym symbol(s) FER1L3, KIAA1207, FLJ36571, FLJ90777
    DNA
    TYPE functioning gene
    STRUCTURE 175.89 kb     54 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    54 splicing 6860 234.6 2061 - Britton (2000)
    53 splicing 6821 233.3 2048 - Britton (2000)
    lacking a 39 nt coding region compared to variant 1
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiensAdult NM_013451.3
    Endocrinepancreas   lowly Homo sapiensAdultNM_013451.3
    Reproductivefemale systemplacenta  highly Homo sapiensAdultNM_013451.3
    Respiratorylung   moderately Homo sapiensAdultNM_013451.3
    Urinarykidney   lowly Homo sapiensAdultNM_013451.3
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • five C2 domains homolog to C2 calcium binding domain of protein kinase C, and an NPF motif in its C2B domain, shown to mediate EHD2 binding
  • a SH3 domain
  • a single transmembrane segment
  • a short C terminal extracellular tail
  • HOMOLOGY
    interspecies homolog to rattus Fer1l3 (93.5 pc)
    homolog to murine Fer1l3 (94 pc)
    intraspecies homolog to dysferlin
    Homologene
    FAMILY
  • ferlin family
  • CATEGORY motor/contractile , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    intracellular,nuclear envelope
    text single-pass type II membrane protein
    basic FUNCTION
  • playing a role in membrane regeneration and repair
  • required for efficient myoblast fusion to myotubes
  • EHD proteins and ferlin proteins form discrete structures in myoblasts
  • ferlins are calcium-sensing proteins and are candidate mediators of vesicle-plasma membrane fusion during myoblast fusion )
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular
    text blood circulation, muscle contraction
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to EHD2
  • ferlin proteins interact with EHD proteins to mediate the cytoskeletal rearrangements necessary for proper membrane recycling and myoblast fusion
  • ferlins and EHBP1 may compete for EHD binding to regulate the complex process of exit from the endocytic recycling compartment, translocation to the plasma membrane, and reorganization of the actin cytoskeleton to facilitate the fusion of exocytosed vesicles to the membrane
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS