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FLASH GENE
Symbol CLPTM1L contributors: mct - updated : 13-12-2022
HGNC name CLPTM1-like
HGNC id 24308
DNA
TYPE functioning gene
STRUCTURE 27.00 kb     17 Exon(s)
MAPPING cloned Y linked N status provisional
Map pter - D5S2774 - D5S2254E - CLPTM1L - D5S1652E - D5S678 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 2164 - 538 - 2002 11850805
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Endocrinepancreas    
Nervousbrain    
Reproductivemale systemprostate   
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
motifs/domains
  • eight putative transmembrane domains
  • two large hydrophilic domains: a loop between the first and second TM domains,
  • a C-terminal tail
  • HOMOLOGY
    Homologene
    FAMILY
  • CLPTM1 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • is a mitochondria protein
  • basic FUNCTION
  • associated with the cisplastin-induced apoptosis
  • may be inducing apoptosis of lung cells under genotoxic exposures such as tobacco carcinogen–related stress
  • act as an anti-apoptotic factor upon endoplasmic reticulum stress, to promote growth, and to confer resistance to chemotherapy
  • is a mitochondria protein and it may be associated with anti-apoptotic mechanism which affects drug-resistance in turn
  • CLPTM1L functions as a growth promoting gene in the pancreas and overexpression may lead to an abrogation of normal cytokinesis
  • is the major lipid scramblase involved in efficient glycosylphosphatidylinositol biosynthesis in the ER membrane
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NKX2.4 regulates TERT and CLPTM1L expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in CDDP (cisplatin)-resistant ovarian tumor cell lines
    tumoral   amplification    
    in early stages of non-small cell lung cancer
    tumoral     --over  
    in lung cancer tissues relative to normal tissues, especially in lung adenocarcinoma
    tumoral     --over  
    in pancreatic endocrine tumors
    Susceptibility
  • to lung cancer
  • to squamous cell carcinoma of the head and neck
  • to skin cancer
  • to uveal melanoma (UM)
  • to Telomere length (TL) shortening
  • to modified age of onset for basal cell carcinomas (BCC) in Gorlin syndrome
  • Variant & Polymorphism insertion/deletion
  • SNPs of TERT-rs2736098 (C > T) and CLPTM1L-rs401681(C > T), may be associated with a reduced risk of squamous cell carcinoma of the head and neck, particularly for their combined effect
  • SNP (rs401681) in the TERT-CLPTM1L locus identified as a susceptibility locus to skin cancer
  • in UM rs452384 is a functional variant that mediates allele-specific binding of the NKX2.4 nuclear factor and the transcriptional activity of the region, including TERT and CLPTM1L
  • exposure to polycyclic aromatic hydrocarbons (PAHs) can accelerate the TL shortening and this effect can be modified by TERT-CLPTM1L variants
  • risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was also associated with an earlier median onset of BCC, 31 years
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS