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FLASH GENE
Symbol CLTCL1 contributors: mct - updated : 26-11-2018
HGNC name clathrin, heavy polypeptide-like 1
HGNC id 2093
Location 22q11.21      Physical location : 19.166.988 - 19.279.239
Synonym name
  • clathrin, heavy polypeptide D
  • clathrin heavy chain on chromosome 22
    • Synonym symbol(s) CLTD, CLH22, CLTCL, CHC22
    DNA
    TYPE functioning gene
    STRUCTURE 112.24 kb     33 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    regionally located in the DiGeorge critical region (DGCR)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    32 splicing 5371 - 1583 muscle 2015 26068709
    33 splicing 5542 - 1640 brain 2015 26068709
  • CLTCL1 Ib
    • 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