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FLASH GENE
Symbol L1TD1 contributors: mct - updated : 25-05-2020
HGNC name LINE1 type transposase domain containing 1
HGNC id 25595
DNA
TYPE functioning gene
STRUCTURE 17.48 kb
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 3942 - 865 - 2017 28093071
4 - 3831 - 865 - 2017 28093071
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines abundantly expressed in undifferentiated embryonic stem cells (hESC)
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY
SUBCELLULAR LOCALIZATION
basic FUNCTION
  • dispensability of L1TD1 in pluripotency, despite its specific expression
  • play an important role in pluripotency maintenance
  • L1TD1 has likely been recurrently selected for functional novelty, perhaps for a role in genome defense
  • SPAG6 and L1TD1 are tumor-specifically methylated in non-small cell lung cancer (NSCLC) and DNA methylation is involved in the transcriptional regulation of these genes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NANOG can activate the L1TD1 upstream promoter region, and L1TD1 is a downstream target of NANOG
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in non-small cell lung cancer (NSCLC)
    tumoral     --over  
    occurs in medulloblastoma cells, reaching levels similar to those found in ESCs, and is correlated with poor prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • increased expression of L1TD1 as a prognostic marker predicting longer disease-free survival in colon cancer patients
    • Therapy target
    SystemTypeDisorderPubmed
    cancerbrain 
    L1TD1 as a potential therapeutic target in malignant brain tumors
    ANIMAL & CELL MODELS