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FLASH GENE
Symbol UNC45B contributors: mct - updated : 26-10-2018
HGNC name unc-45 homolog B (C. elegans)
HGNC id 14304
Corresponding disease
ADCC7 congenital cataract, zonular central nuclear 7
Location 17q12      Physical location : 33.474.835 - 33.516.363
Synonym name
  • cardiomyopathy associated 4
  • striated muscle UNC45
  • Synonym symbol(s) UNC45, CMYA4, SMUNC45, FLJ38610, MGC119540, MGC119541, UNC-45B
    DNA
    TYPE functioning gene
    STRUCTURE 41.55 kb     21 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 splicing 5688 103.5 929 - 2014 24549050
    19 splicing 5597 103.6 931 - 2014 24549050
    20 - 5685 - 929 - 2014 24549050
    17 - 5354 - 850 - 2014 24549050
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly Homo sapiens
    Digestivestomach   moderately
    Respiratoryrespiratory tractlarynx  highly
    Visualeye   moderately Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text eye, myoblast fusion
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N-terminal tetratricopeptide repeat domain that binds to Hsp90
  • a central domain composed of armadillo repeats
  • C-terminal UCS domain, which is also comprised of helical armadillo repeats, interacts with myosin
  • HOMOLOGY
    interspecies homolog to rattus Unc45b (94.6 pc)
    homolog to murine Unc45b (94.9 pc)
    Homologene
    FAMILY
  • UCS family of myosin chaperones
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text Shuttling of the chaperones UNC45B and HSPAA1 between the A band and the Z line of the myofibril (Etard 2008)
    basic FUNCTION
  • may play a role in sarcomere formation and organisation during muscle cell development
  • playing a role in myoblast fusion
  • may act as co-chaperone for HSP90
  • may be necessary for proper folding of myosin
  • is a cytosolic protein that forms a stable complex with HSP90AA1, selectively binds the unfolded conformation of the myosin motor domain, and promotes motor domain folding
  • myosin-specific chaperone that, together with the general heat shock protein HSP90AA1, is involved in myosin assembly
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS development
    text
  • cytoskeleton organization
  • myogenesis of skeletal muscles
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • chaperone UNC45B inhibits the actin translocation function of myosin
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ADCC7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS