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FLASH GENE
Symbol CLTCL1 contributors: mct - updated : 26-11-2018
HGNC name clathrin, heavy polypeptide-like 1
HGNC id 2093
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Nervousbrain   highly Homo sapiensFetal
Reproductivemale systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text fetal tissues
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