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FLASH GENE
Symbol DES contributors: mct/npt - updated : 06-09-2018
HGNC name desmin
HGNC id 2770
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four alpha helical rods separated by linkers and flanked by non helical head and myosin tail
  • a coiled coil segment
    • secondary structure
  • four alpha-helical rods 1A, 2A, 1B, 2B
  • a central alpha-helical rod flanked by non–&
    • 945;-helical head and tail regions
    mono polymer homomer , polymer
    HOMOLOGY
    interspecies homolog to murine Vim
    Homologene
    FAMILY
  • intermediate filament family, type III
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • forming a fibrous network in adult striated muscle connecting myofibrils to each other and to the plasma membrane
  • having a potential role in lysosomes and lysosome-related organelle biogenesis and/or positioning
  • a potential regulator of muscle mitochondrial behavior and function
  • intermediate filament that may be maintaining the structural and functional integrity of the myofibrils and functioning as a cytoskeletal protein linking the Z band to the plasma membrane
  • muscle-specific intermediate filament protein, which surrounds the Z disks and links the entire contractile apparatus to the sarcolemmal cytoskeleton, cytoplasmic organelles, and the nucleus
  • play crucial roles in the maturation, maintenance and recovery of muscle fibers
  • preferential target of advanced glycation end products (AGE) in dilated cardiomyopathy (DCM), and AGE may play an important role in DCM because they alter the organization of desmin filaments that normally support stress response and mitochondrial functions in cardiomyocytes
  • role for desmin as an anti-hypertrophic protein necessary for airway smooth muscle cell homeostasis and identifies desmin as a novel regulator of microRNA
  • intimately surround myofibrils in vertebrate muscle forming a mesh-like filament network
  • protein of the cytoskeleton, central to maintenance of the structure, shape and function of the myofiber and its organelles, especially the mitochondria, and to translation of sarcomere contraction into muscle contraction
  • plays an important role in muscle contraction
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS locomotion
    PATHWAY
    metabolism
    signaling
    a component
  • both DES and NEB form complex filament systems in muscle cells that synergistically collaborate to integrate the myofibril contractile machinery to the IF cytoskeletal network
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CRYAB (alphaB-crystallin) serves as a chaperone for DES preventing its aggregation under various forms of stress
  • MTM1 is a major regulator of both the desmin cytoskeleton and mitochondria homeostasis, specifically in skeletal muscle
  • one of the important binding partners of plectin in mature muscle (binding of plectin to the conserved rod domain of intermediate filament(IF) proteins could well explain its broad interaction with most types of IFs)
  • Z-disc-associated nebulin interacts with desmin through multiple sites to provide efficient stability to satisfy the dynamic contractile activity of myocytes
  • link between desmin and ANKRD1 regulation, which may be important for ASMC (airway smooth muscle cells) homeostasis
  • desmin and vimentin, two components of the intermediate filament in muscle, directly interacted with and were degraded by FBXO32 in response to MSTN
  • novel desmin-associated protein is the tripartite motif-like protein CMYA5
  • CDK1-induced DES phosphorylation is required for efficient separation of desmin-intermediate filament (IF) and generally detected in muscular mitotic cells and generally detected in muscular mitotic cells
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DESM , CMD1I , RCM2 , SCPNK , LGMD2R
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colorectal cancer stroma, observed in late stage tumors, consistent with increased angiogenesis
    constitutional     --over  
    abnormal accumulation of desmin in gastrocnemius myofibers of patients with peripheral artery disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • phosphorylation of serine 28 on DES could be a specific marker of the altered desmin filament network in the context of cardiomyopathy
  • MYH7, IGFBP7, ANXA2, and DES are all excellent candidate plasma biomarkers of heart failure
    • Therapy target
    ANIMAL & CELL MODELS