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FLASH GENE
Symbol DYM contributors: mct - updated : 29/11/2008
HGNC name dymeclin
HGNC id 21317
Corresponding disease
DMC Dyggve-Melchior-Clausen syndrome
SMCD Smith-McCort dysplasia
Location 18q21.1      Physical location : 46.570.171 - 46.987.079
Synonym name Dyggve-Melchior-Clausen syndrome protein
Synonym symbol(s) FLJ20130, FLJ20071, SMC, DMC
DNA
TYPE functioning gene
STRUCTURE 416.91 kb     17 Exon(s)
regulatory sequence Promoter
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 2628 76 669 - 2002 12161821
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
cells
SystemCellPubmedSpeciesStageRna symbol
not specificchondrocyte
not specificfibroblast
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text
  • brain, widely in embryo
  • prominent head and cartilage DYM expression during early development
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 6 transmembrane segments
  • a putative N-myristoylation site
  • 30 to 36 dileucine motifs
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Dym
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,nuclear envelope
    text
  • located in multiple cellular compartments
  • not an integral membrane protein of the ER, but rather a peripheral membrane protein dynamically associated with the Golgi apparatus
  • localizes to the cytosol and Golgi
  • PPIB colocalized with Dymeclin and displayed a perinuclear distribution, likely aggregating within Golgi and/or ER structures
  • basic FUNCTION
  • may be involved in proteoglycans metabolism and in intracellular digestion of proteins
  • involved in Golgi organization and intracellular vesicle traffic
  • could influence vesicle traffic at a number of levels, including the budding, movement, sorting, and fusion of vesicle membranes, possibly by acting as a membrane-spanning adaptor and could also play a direct role in Golgi organization
  • peripheral nonanchored Golgi protein capable of shuttling between cellular compartments
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associates with multiple cellular proteins involved in vesicular traffic
  • GOLM1 and PPIB are interacting partner (role of Dymeclin in secretory pathways essential to endochondral bone formation during early development)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DMC , SMCD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS