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FLASH GENE
Symbol RMDN3 contributors: mct/npt - updated : 10-02-2021
HGNC name regulator of microtubule dynamics protein 3
HGNC id 25550
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
HOMOLOGY
Homologene
FAMILY
  • FAM82/RMD family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    basic FUNCTION
  • may be involved in the regulation of cellular processes associated with differentiation, movement, or cytoskeletal organization
  • might be involved in the regulation of cellular processes associated with differentiation, movement, or cytoskeletal organization (Stenzinger 2005)
  • implicated in differentiation of human muscle cells (Barop 2009)
  • is implicated in the differentiation process of immature photoreceptors and because it is specifically localized in the inner segment, RMND3 may contribute to the complex stage of maturation of the apical segment of these cells
  • VAPB and RMND3 localise and form contacts at synapses, and stimulating neuronal activity increases ER-mitochondria contacts and the VAPB-RMND3 interaction
  • is a determinant of endoplasmic reticulum-mitochondria proximity in Purkinje cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • VAPB interacts with the outer mitochondrial membrane protein, protein tyrosine phosphatase-interacting protein 51 (RMDN3)
  • TARDBP leads to activation of GSK3B and GSK3B regulates the VAPB-RMDN3 interaction
  • RMDN3 mRNA and protein expression is regulated by RELA
  • OSBPL5 and OSBPL8 are also localized to ER-mitochondria contacts and interact with the outer mitochondrial membrane protein RMDN3
  • the mechanism by which the VAPB-RMDN3 tethers regulate autophagy involves their role in mediating delivery of Ca2+ to mitochondria from ER stores
  • VAPB-RMDN3 tethers regulate macroautophagy/autophagy
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in prostate carcinoma (Koch 2009)
    constitutional     --low  
    loss of either VAPB or RMDN3 perturbs uptake of Ca(2+) by mitochondria following release from ER stores
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS