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FLASH GENE
Symbol DNAJC13 contributors: mct - updated : 08-11-2017
HGNC name DnaJ (Hsp40) homolog, subfamily C, member 13
HGNC id 30343
Corresponding disease
PARK21 Parkinson disease 21
Location 3q22.1      Physical location : 132.136.552 - 132.257.875
Synonym name
  • cDNA sequence,expressed in brain, >100kDa, related to C elegans cos F18C12
  • receptor-mediated endocytosis 8
  • DnaJ domain-containing protein RME-8
  • Synonym symbol(s) KIAA0678, RME8, FLJ25863, RME-8, PARK21
    DNA
    TYPE like-sequence
    STRUCTURE 121.51 kb     56 Exon(s)
    motif
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    56 - 7551 254.4 2243 - 2005 16179350
    - - 7620 - 2248 - 2005 16179350
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Endocrineneuroendocrinepituitary  highly
     parathyroid   highly
    Nervousbrain    
    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
  • HOMOLOGY
    interspecies homolog to C.elegans cosmid F18C12
    Homologene
    FAMILY
    CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • localization of DNAJC13 to endosomal compartments is spatially mediated by PI(3)P binding and temporally regulated by MTMR2 activity
  • basic FUNCTION
  • involved in amino acid activation
  • peripheral protein that was tightly associated with the membrane via its N-terminal region
  • is primarily involved in membrane trafficking through early endosomes, but not through degradative organelles, such as multivesicular bodies and late endosomes
  • acting as a tRNA ligase
  • regulates the cellular levels of EGFR by contributing to the control of EGFR endosomal trafficking and degradation, regulating membrane trafficking through early endosomes
  • could have a general influence on the trafficking of receptors that are targeted via ubiquitination to the degradative pathway
  • regulates the dynamics of clathrin coats on early endosomes
  • DNAJ domain containing protein implicated in translocation of HSPA8 to early endosomes for clathrin removal during retrograde transport
  • is a co-chaperone on endosomes and may have a role in clathrin-coated vesicle endocytosis on this organelle
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • potential regulatory target in ERBB2-positive breast cancers
  • interaction between DNAJC13 and the WASH complex provides a means to coordinate the activity of the WASH complex with the membrane-tubulating function of the sorting nexins at sites where retromer-mediated endosomal protein sorting occurs
  • critical role for PI(3)P in theDNAJC13-mediated organizational control of various endosomal activities, including retrograde transport
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PARK21
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS