Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol OBSCN contributors: mct - updated : 05-05-2015
HGNC name obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
HGNC id 15719
Location 1q42.13      Physical location : 228.395.860 - 228.566.575
Genatlas name obscurin-myosin light chain kinase (obscurin -MLCK )
Synonym name
  • obscurin-MLCK
  • obscurin-RhoGEF
  • Synonym symbol(s) UNC89, KIAA1556, FLJ14124, MGC120409, MGC120410, ARHGEF30, DKFZp666E245, FLJ14124
    TYPE like-sequence
    STRUCTURE 170.80 kb     106 Exon(s)
    MAPPING cloned Y linked N status provisional
    TRANSCRIPTS type messenger
    text multiple splice variants (Young)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    82 - 20431 720 6620 in skeletal muscle 2007 17382936
  • obscurin A
  • N-terminal, Rho-GEF, and the non-modular C-terminal domain that lacks the kinase-like domains, localizes at the level of the M-band
  • modular protein of striated muscles, binds to small ankyrin 1 (sAnk1, Ank 1.5), an integral protein of the sarcoplasmic reticulum, through two distinct C-terminal sequences (PMID: 20949908)
  • 106 - 24030 900 7968 not restricted to striated muscles, but are abundantly expressed in several tissues and organs including brain, skin, kidney, liver, spleen, and lung 2007 17382936
  • Obscurin B, or giant kinase isoform
  • N-terminal, Rho-GEF, and the C-terminal kinase-like domains, localizes at the level of the A/I junction
  • tandem structural and signaling motifs, including 2 serine/threonine kinase domains, SK1 and SK2, present at the C- terminus of giant obscurin-B
  • - - 26925 - 8923 - -
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver     Homo sapiens
    Lymphoid/Immunespleen     Homo sapiens
    Nervousbrain     Homo sapiens
    Respiratorylung     Homo sapiens
    Skin/Tegumentskin     Homo sapiens
    Urinarykidney     Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac   Homo sapiens
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    at STAGE
  • 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
    interspecies homolog to Drosophila kst
    homolog to C.elegans sma-1/unv-89
  • DBL family of guanine nucleotide exchanges factor and titin family of myosin light chain kinases (MLCK)
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    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
    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
    small molecule
  • 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