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FLASH GENE
Symbol CLTC contributors: mct/npt/pgu - updated : 25-06-2017
HGNC name clathrin, heavy polypeptide (Hc)
HGNC id 2092
Corresponding disease
MRD56 mental retardation, autosomal dominant 56
Location 17q23.1      Physical location : 57.697.049 - 57.774.317
Synonym name
  • clathrin, heavy polypeptide-like 2
  • clathrin heavy chain 1
  • Synonym symbol(s) CLTC1, D17S1600E, CLTCL2, KIAA0034, CHC, CHC17
    DNA
    TYPE functioning gene
    STRUCTURE 77.27 kb     32 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    TEX14 17q22-q23 testis expressed sequence 14 RAD51C 17q22-q23 RAD51 homolog C (S. cerevisiae) PPM1E 17q23.2 protein phosphatase 1E (PP2C domain containing) TRIM37 17q22-q23 tripartite motif-containing 37 LOC348235 17q23.2 hypothetical protein LOC348235 FLJ11029 17q23.2 hypothetical protein FLJ11029 FLJ10587 17q23.2 hypothetical protein FLJ10587 FLJ37451 17q23.2 hypothetical protein FLJ37451 LOC388403 17 similar to Yippee-like protein 2 (DiGeorge syndrome-related protein FKSG4) DHX40 17q23.2 DEAH (Asp-Glu-Ala-His) box polypeptide 40 CLTC 17q11-qter clathrin, heavy polypeptide (Hc) PRO0456 17q23.2 PRO0456 protein CGI-147 17q23.2 CGI-147 protein VMP1 17q23.2 likely ortholog of rat vacuole membrane protein 1 TUBD1 17q23.2 likely ortholog of mouse tubulin, delta 1 RPS6KB1 17q23.3 ribosomal protein S6 kinase, 70kDa, polypeptide 1 LOC51136 17q23.2 PTD016 protein LOC390805 17 similar to DEAH (Asp-Glu-Ala-His) box polypeptide 40 LOC388404 17 similar to TBC1 domain family member 3 (Rab GTPase-activating protein PRC17) (Prostate cancer gene 17 protein) (TRE17 alpha protein) LOC201201 17q23.2 hypothetical LOC201201 ABC1 17q23.2-q23.3 amplified in breast cancer 1 LOC388405 17 LOC388405 CA4 17q23 carbonic anhydrase IV USP32 17q23.3 ubiquitin specific protease 32 LOC124773 17q23.3 hypothetical protein LOC124773 LOC284166 17q23.3 similar to 60S ribosomal protein L12 APPBP2 17q23 amyloid beta precursor protein (cytoplasmic tail) binding protein 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    32 - 8575 - 1675 - 2009 19509056
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal globular domain
  • seven clathrin propeller repeats
  • light chain binding domain
  • HOMOLOGY
    interspecies homolog to Drosophila Chc
    homolog to C.elegans T20G5.1
    intraspecies homolog to CLTCL1
    Homologene
    FAMILY
  • clathrin heavy chain family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • translocated to plasma membrane through AP2 binding
  • synaptic vesicles
  • exists not only in cytosol but also in nuclei
  • TP53 co-localized with CLTC at the plasma membrane in response to EGF stimulation
  • is detected in lamellipodia in the absence of the adaptor and accessory proteins of endocytosis
  • localizes to the mitotic spindle
  • basic FUNCTION
  • involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules
  • functions as a vesicle transporter
  • nuclear form is required for the transactivation of TP53 target genes and plays a distinct role from clathrin-mediated endocytosis
  • play a role in receptor-mediated endocytosis
  • endogenous CLTCL1 and CLTC function independently in nonmuscle and muscle cells
  • functions as a built-in molecular brake that ensures a tight control of basal NFKB1 activation and gene expression in unstimulated cells
  • required for Golgi reassembly following disruption with pharmacological agents and for mitotic chromosome congression
  • involved in endocytosis, intracellular trafficking, and synaptic recycling
  • in addition to its classical role in membrane trafficking, brings the Scar/Wave complex to the plasma membrane, thereby controlling lamellipodium formation
  • has a well-characterized role in endocytosis and sorting at the trans-Golgi network and endosomes
  • plays likely a role in centrosome function that could directly or indirectly influence later mitotic events
  • does not play a direct role in centriole duplication but may affect centrosome number through another pathway
  • centrosome maturation requires CLTC and CLTCL1 influences the cell cycle independently, further establishing that functions of both clathrins are required for normal cell division
  • DNM2, CLTC and lipid rafts mediate SLC12A1 endocytosis and maintain steady-state apical surface SLC12A1 in native renal thick ascending limb (THAL)
  • plays a role in the processes of tumorigenesis and angiogenesis
  • SNX9 and clathrin heavy chain (CLTC) each have roles in mitosis during metaphase
  • SNX9 and CLTC function in the same molecular pathway for chromosome alignment and segregation, which is dependent on their direct association
  • CKAP5 is likely important in oocyte maturation and early embryo development, and CKAP5 might work together with CLTC in oocyte maturation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport , cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
  • major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits
  • basic subunit of the clathrin coat composed of three heavy chains and three light chains
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • catalytic domain of FKBP6 binds to clathrin heavy chain (CLTC) of clathrin
  • GAK and CLTC function cooperatively not only in endocytosis, but also in mitotic progression
  • cytosolic protein regulating endocytosis, present in nuclei and binding to TP53 to promote TP53-mediated transcription
  • binding GABARAP
  • CLTC binds specifically to phosphorylated TACC3 and recruits it to spindle poles for proper spindle assembly and chromosome alignment
  • MAP1B, a microtubule stabilizing protein, and CLTC, the major component of the clathrin triskelion, are interaction partners for DST
  • one of the key functions of CLTC was to bind HIF1A protein, increasing the stability of this protein and facilitating its nuclear translocation, thereby regulating the expression of VEGFA
  • CLTC physically interacts with ESR1 in the cytoplasm of breast cancer cells and regulates E2-induced cell proliferation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD56
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    to ALK in anaplastic large cell lymphoma
    tumoral fusion      
    to TFE3 in t(X;17)(p11.2;q23)in renal adenocarcinoma
    tumoral fusion      
    with CLTC in t(2;17)(p23;q23)in inflammatory myofibroblastic tumors
    Susceptibility to Developmental and epileptic encephalopathy (DEE)
    Variant & Polymorphism other
  • de novo frameshift in CLTC (c.2737_2738dupGA [p.Asp913Glufs&
  • 8727;59]) was reported in a subject with DEE
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS