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FLASH GENE
Symbol DNAJB6 contributors: mct - updated : 04-12-2017
HGNC name DnaJ (Hsp40) homolog, subfamily B, member 6
HGNC id 14888
Corresponding disease
LGMD1D limb-girdle muscular dystrophy 1D
Location 7q36.3      Physical location : 157.129.709 - 157.210.132
Synonym name
  • heat shock protein J2
  • dnaJ homolog subfamily B member 6
  • DnaJ-like 2 protein
  • limb girdle muscular dystrophy 1D (autosomal dominant)
  • Synonym symbol(s) MRJ, HHDJ1, HSJ-2, MSJ-1, MGC1152, MGC5201, DKFZp566D0824, MGC117297, DJ4, FLJ42837, Dnaj, MSJ1
    DNA
    TYPE functioning gene
    STRUCTURE 80.42 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 splicing 2494 36.1 326 - 2010 20522561
  • DNAJB6A, also called MRJ(L)
  • can act as a nuclear protein by virtue of its nuclear localization signal and can considerably reduce the expression of several secreted proteins that promote invasion, migration, and metastasis of cancer cells
  • inhibits Wnt/beta-catenin signaling by up-regulating DKK1, a secreted inhibitor of Wnt signaling
  • contains a nuclear localization signal and regulates CTNNB1 signaling during breast cancer developmen
  • 8 splicing 1568 26.9 241 - 2010 20522561
  • DNAJB6B also called MRJ(S), DNAJB6(S)
  • regulate keratin8/k18 organization
  • assist in NFATc3-mediated transcriptional repression
  • play a critical role in Huntington disease
  • having a cytoprotective effects that may be mediated, at least in part, by the mitochondrial pathway of apoptosis
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Nervousbrain   predominantly Homo sapiens
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion sperm
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a J domain
  • a conserved G/F domain, mediating chaperone-substrate interactions in a manner that extends beyond recognition of a particular client and to a subset of client conformers
  • HOMOLOGY
    interspecies ortholog to murine Dnajb6
    Homologene
    FAMILY
  • DNAJ protein family
  • heat-shock protein 40 (HSP40) family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    text
  • dispersed throughout the cell during late mitosis and localized in nucleolus during interphase, confirming that the activity of DNAJC6 is regulated by its cell cycle specific expression together with its differential subcellular localization
  • nuclear localization of DNAJB6 is associated with longer survival times of patients with esophageal squamous cell carcinoma
  • basic FUNCTION
  • playing a role in oligomeric protein complex assembly
  • playing a role in polyglutamine aggregation in specific neurons
  • having a heat shock protein activity
  • might exert fundamental functions in reproduction
  • implicated in diverse cellular functions including placental development and inhibition of Huntingtin mediated cytotoxicity
  • with DNAJB8 are superior suppressors of aggregation and toxicity of disease-associated polyglutamine proteins
  • may play a role in maintaining an epithelial phenotype, and inhibition of the Wnt/beta-catenin pathway may be one of the potential mechanisms contributing to the restriction of malignant behavior by DNAJB6
  • important involvement of DNAJB6, a member of heat-shock protein 40 (HSP40) family, in negatively impacting tumor growth
  • DNAJB6 and DNAJB8 protein chaperones prevent intracellular aggregation of polyglutamine peptides
  • is a peptide-binding chaperone that can interact with polyQ peptides that are incompletely degraded by and released from the proteasome
  • CELLULAR PROCESS protein, post translation, folding
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to PTTG
  • interacting with CFTR
  • interact with keratin intermediate filaments
  • J domain of DNAJB6 is involved in mediating SPP1 suppression
  • DNAJB6 binds HSPA8 and causes dephosphorylation of GSK3B at Ser 9 by recruiting protein phosphatase, PPP2CA
  • regulatory mechanism of DNAJB6-mediated DKK1 transcriptional up-regulation that can influence EMT (epithelial-mesenchymal transition)
  • interactions between PLAUR and HSPA4/DNAJB6 having functions in cell adhesion and migration that may provide more understanding of the roles in regulating cancer metastasis
  • inhibits the conversion of soluble polyQ peptides into amyloid fibrils, in particular by suppressing primary nucleation
  • DNAJB6 and HSPA4 cooperate to suppress SNCA aggregation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LGMD1D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS