Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CLPTM1L contributors: mct - updated : 13-12-2022
HGNC name CLPTM1-like
HGNC id 24308
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