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FLASH GENE
Symbol DNAJC5 contributors: mct/npt - updated : 13-03-2015
HGNC name DnaJ (Hsp40) homolog, subfamily C, member 5
HGNC id 16235
Corresponding disease
CLN4B ceroid lipofuscinosis, neuronal, 4, Parry type
Location 20q13.33      Physical location : 62.526.517 - 62.565.394
Synonym name cysteine string protein 1
Synonym symbol(s) CSP, FLJ00118, FLJ13070, DKFZP434N1429, DKFZp761N1221, DNAJC5A, CSP1
DNA
TYPE functioning gene
STRUCTURE 38.88 kb     5 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
5 splicing 3286 - 198 - Hattori (2000)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal conserved J domain through which they form a complex with heat shock cognate 70 (HPA8), enhancing the chaperone ATPase activity
  • an adjacent linker region, the defining cysteine rich domain and a variable C terminus
  • conjugated LipoP
    HOMOLOGY
    Homologene
    FAMILY
  • DnaJ-family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    text
  • membrane-bound
  • has a weak membrane affinity that allows the protein to locate its partner Golgi-localized DHHC proteins directly by membrane "sampling" (Greaves 2008)
  • basic FUNCTION
  • playing a role in exocytosis of large dense core vesicles
  • having an important role in presynaptic function
  • involved in calcium-dependent neurotransmitter release at nerve endings
  • extensively palmitoylated DnaJ-family chaperone, which exerts an important neuroprotective function (Greaves 2008)
  • involved in MARCKS targeting to and/or preferentially attaching to mucin granule membranes (Park 2008)
  • with HSP70, and their interactions with MARCKS, are involved in mucin secretion (Park 2008)
  • SNARE-binding protein involved in the vesicular trafficking of neurotransmitters and other exocytic processes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
  • DNAJC5 appeared to form a trimeric complex with MARCKS and HSP70 associated with mucin granule membranes within airway epithelial cells (Park 2008)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Hsp70 binds directly to DNAJC5, but MARCKS binding to DNAJC5 appears to require the presence of Hsp70 (Lin 2010)
  • is involved in insulin resistance by interrupting SLC2A4 vesicle docking with the plasma membrane
  • cell & other
    REGULATION
    Other regulated by palmitoylation (is required for the intracellular sorting and function of DNAJC5, and thus it is important to understand how this essential modification of DNAJC5 is regulated) (Greaves 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) CLN4B
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    of wild-type DNAJC5 led to attenuated insulin-stimulated glucose uptake without any change in SLC2A4 content in the plasma membrane
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS