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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
Location 1p31.3      Physical location : 62.660.473 - 62.677.998
Synonym name
  • ES cell-associated protein 11
  • Synonym symbol(s) ECAT11, FLJ10884, MGC133253
    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