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FLASH GENE
Symbol OBSL1 contributors: mct/npt/pgu - updated : 03-06-2009
HGNC name obscurin-like 1
HGNC id 29092
Corresponding disease
GFS2 gloomy face syndrome 2
Location 2q35      Physical location : 220.415.450 - 220.436.268
Synonym name KIAA0657 protein
Synonym symbol(s) KIAA0657, MGC71026
DNA
TYPE anonymous DNA segment
STRUCTURE 20.55 kb     21 Exon(s)
regulatory sequence Binding site
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing 3316 130 1025 strongly expressed in the heart and placenta and expressed at lower levels across a broad range of tissues 2007 17289344
22 splicing 5841 207 1896 - 2007 17289344
a conserved splice donor site within this exon can be utilized to generate longer transcripts corresponding to OBSL1A
- splicing 5523 170 1401 multiple noncardiac tissues 2007 17289344
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
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