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FLASH GENE
Symbol OBSCN contributors: mct - updated : 05-05-2015
HGNC name obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
HGNC id 15719
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two fibronectin type III domain
  • >68 immunoglobulin domains
  • pleckstrin homology domain
  • two serine/threonine kinase domains
  • one calcium/calmodulin binding domain
  • several interacting modules, one of which mediates binding to muscle-specific ankyrins
  • a C terminal Rho GEF domain, with two distinct binding sites to mediate binding with ANK1I5 and ANK1I9, rhoGEF domain and tandem pleckstrin homology domain, are consistent with a role in rho signaling in muscle
  • HOMOLOGY
    interspecies homolog to Drosophila kst
    homolog to C.elegans sma-1/unv-89
    Homologene
    FAMILY
  • DBL family of guanine nucleotide exchanges factor and titin family of myosin light chain kinases (MLCK)
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    text sarcomere
    basic FUNCTION
  • giant muscle protein involved in Ca2+/calmodulin and G protein-couples signal transduction in the sarcomere
  • having important functions in cardiac and skeletal muscle physiology
  • C-terminal region interacts with sarcomeric myosin and may play a critical role in its ability to assemble into A bands in striated muscle
  • play several distinct roles in organizing and stabilizing the contractile apparatus and nearby structures
  • playing a role in mediating the subcellular localization of small ANK1 isoforms in striated muscle cells
  • multidomain protein composed of adhesion and signaling domains that plays key roles in the organization of contractile and membrane structures in striated muscles
  • modular protein of striated muscle that concentrates around the M-bands and Z-disks of each sarcomere, where it is well positioned to sense contractile activity
  • its rhoGEF domain signals at least in part by inducing RHOA expression and activation, and altering the expression of downstream kinases in skeletal muscle
  • OBSCN and KCTD6 regulate cullin-dependent small ankyrin-1 (ANK1) protein turnover
  • play essential roles in myofibrillogenesis, cytoskeletal organization, and Ca(2+) homeostasis
  • may play common and unique roles, respectively, in the regulation and maintenance of cell homeostasis in various tissues and organs throughout the body
  • giant cytoskeletal protein with structural and regulatory roles
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
  • signaling pathway in skeletal muscle that involves obscurin and the Rho GTPase RHOQ and implicate this pathway in new sarcomere formation
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • N terminal Z-disk of titin
  • ligand for small ankyrin 1 in skeletal muscle (obscurin and small ANK1 isoforms may form stable interactions that may be relevant to connect the sarcoplasmic reticulum and the contractile apparatus in skeletal muscle cells)
  • obscurin/ANK2 interaction is critical for recruitment of PPP2A to the cardiac M-line
  • specific activator of RHOQ but not the Rho GTPases RAC1 and CDC42
  • a new ligand of obscurin at the M-band is MYBPC1, suggesting that their interaction contributes to the assembly of M- and A-bands
  • by targeting ANK2 at the M band, contributes to the organization of subsarcolemma microtubules, localization of dystrophin at costameres, and maintenance of sarcolemmal integrity
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS