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FLASH GENE
Symbol OBSL1 contributors: mct/npt/pgu - updated : 03-06-2009
HGNC name obscurin-like 1
HGNC id 29092
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four tandem N-terminal immunoglobulin-like (Ig) domains
  • a central fibronectin (Fn) domain
  • three C-terminal Ig domains
    • HOMOLOGY
    Homologene
    FAMILY
  • UNC89/obscurin family
    • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    text localizes to the intercalated discs and to the perinuclear region
    basic FUNCTION
  • primary function is to interact with one or, more likely, multiple other proteins to stabilize cytoskeletal structures and/or scaffold signaling complexes
  • likely functioning as a cytoskeletal linker, positioning and stabilizing cell contacts and organelles within the cytoskeletal framework
  • likely having similarly important roles in striated muscle structure and function
  • cytoskeletal adptor protein, that may have a role in the maintenance of normal level of CUL7
  • required for the morphogenesis of the Golgi apparatus and the elaboration of dendrites
  • OBSL1-regulated CUL7/FBXW8 ubiquitin signaling mechanism that orchestrates the morphogenesis of the Golgi apparatus and patterning of dendrites
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • OBSL1 forms a physical complex with the scaffold protein CUL7 and thereby localizes CUL7 at the Golgi apparatus
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interactions with titin, Myomesin and ankyrin
  • head-to-tail interaction of the C-terminus of titin and the N-terminus of obscurin-like-1(OBSL1)
  • physical interaction of OBSL1 with both CUL7 and CCDC8 and its potential role in the regulation of CUL7 expression suggesting all three proteins are members of the same growth-regulatory pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GFS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS