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FLASH GENE
Symbol CLTCL1 contributors: mct - updated : 26-11-2018
HGNC name clathrin, heavy polypeptide-like 1
HGNC id 2093
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • clathrin propeller repeat
  • trimerization domain
  • light chain binding domain
  • HOMOLOGY
    Homologene
    FAMILY clathrin heavy chain family
    CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • translocated to plasma membrane through AP2 binding
  • synaptic vesicles
  • basic FUNCTION
  • major protein of the polyhedral coat of coated pits and vesicles, involved in tumor development
  • may play a role in the hypotonia seen in velo-cardio-facial syndrome
  • is involved in the formation of insulin-responsive GLUT4 compartments in muscle and adipocytes )
  • functions in endosomal sorting at a distinct step from CLTC and is not observed on the mitotic spindle under normal conditions
  • endogenous CLTCL1 and CLTC function independently in nonmuscle and muscle cells
  • was required for retrograde trafficking of certain cargo molecules from endosomes to the trans-Golgi network (TGN), defining a novel endosomal-sorting step distinguishable from that mediated by CLTC and retromer
  • its function was not required for centrosome integrity, but its depletion caused multinucleation
  • CLTCL1 and SLC2A4 can be considered markers of muscle regeneration
  • essential and non-redundant role for CLTCL1 in neural crest development and in the genesis of pain and touch sensing neurons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the neuromuscular and myotendunous junctions (Towler 2004)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding SNX5 (Towler 2004)
  • cell & other
    REGULATION
    Other
  • increased expression during myogenesis and muscle regeneration (Towler 2004)
  • ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • potentially involved in type 2 diabetes (Vassilopoulos 2009)
  • chromosomal aberrations involving CLTCL1 gene are associated with meningioma, DiGeorge syndrome and velo-cardio-facial syndrome
  • Marker
    Therapy target
    ANIMAL & CELL MODELS