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FLASH GENE
Symbol CTCFL contributors: mct/pgu - updated : 13-04-2020
HGNC name CCCTC-binding factor (zinc finger protein)-like
HGNC id 16234
Location 20q13.31      Physical location : 56.072.223 - 56.100.154
Synonym name
  • brother of the regulator of imprinted sites
  • BORIS-like protein
  • CCCTC-binding factor-like protein
  • cancer/testis antigen 27
  • zinc finger protein CTCF-T
  • putative high mobility group protein 1-like 1
  • Brother of the Regulator of Imprinted Sites
    • Synonym symbol(s) BORIS, dJ579F20.2, CTCF-T, CT27, HMGB1L1, MGC163358, MGC169105, MGC169106
    DNA
    TYPE functioning gene
    STRUCTURE 29.69 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • three promoters, designated A, B and C, corresponding to transcription start sites at -1447, -899 and -658 bp upstream of the first ATG,
  • negatively regulated by DNA methylation and by CTCF and TP53
  • three promoter blocks, the GATA/CCAAT box was determined to be a critical element of the core promoter, while the CpG islands and the BORIS-MS2 minisatellite region were found to act as regulators
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text varying promoter usage driving multiple transcripts could influence many aspects of epigenetic reprogramming in normal development and in tumorigenesis
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 3493 - 663 - 2007 17957795
    also called variant 1
    11 - 3601 - 663 - 2007 17957795
  • variant A1
  • having promoter A preferentially used upon activation of BORIS during tumorigenesis
    • - - 3701 - 663 - 2007 17957795
  • having promoter A preferentially used upon activation of BORIS during tumorigenesis
    • 10 - 3897 - 613 - 2007 17957795
  • variant A3
  • having promoter A preferentially used upon activation of BORIS during tumorigenesis
    • 10 - 4073 - 663 - 2007 17957795
  • variant C1
  • having promoter C preferentially used upon activation of BORIS during tumorigenesis
    • 11 - 3598 - 662 - 2007 17957795
    10 - 3002 - 573 - 2007 17957795
    10 - 2955 - 627 - 2007 17957795
    5 - 1513 - 404 - 2007 17957795
    10 - 2295 - 422 - 2007 17957795
    8 - 2168 - 299 - 2007 17957795
    12 - 2499 - 700 - 2007 17957795
    10 - 2288 - 460 - 2007 17957795
    10 - 2077 - 403 - 2007 17957795
    4 - 1985 - 404 - 2007 17957795
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegerm cell
    Reproductivespermatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eleven zinc fingers flanked by polypeptides of unknown structure and function, an 11ZF domain that is highly similar to the 11ZF domain of CTCF
  • unstructured terminal segments of CTCF and CTCFL that could recruit different binding partners to chromosomes
    • HOMOLOGY
    intraspecies paralog to CTCF
    Homologene
    FAMILY
  • cancer testis antigen (CTA) family
  • CTCF zinc-finger protein family
    • CATEGORY regulatory , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm,nuclear bodies
    intracellular,nucleus,nucleolus
    text
  • cytoplasm of spermatocytes
  • is confined to the nucleolus and other euchromatin domains, but also localises to interphase centrosomes suggesting a role in the cell cycle
  • in the nucleus, is particularly enriched in the nucleolus, a crucial compartment for ribosomal RNA and RNA metabolism
    • basic FUNCTION
  • involved in different aspects of gene regulation including promoter activation or repression, hormone-responsive gene silencing, methylation- dependent chromatin insulation, and genomic imprinting
  • possible involvement in the establishment, progression and maintenance of breast tumours
  • has acquired testis-specific functions in mammalian organisms
  • DNA-binding factor that regulates the transcriptional program of mammalian male germ cells
  • plays important physiological functions in progression of spermatogenesis by regulating expression of a testis-specific splicing variant of cerebroside sulfotransferase
  • directly involved in activation of PRSS50 expression by binding to the promoter region
  • potential role for BORIS in coordinating S phase events with mitosis
  • is likely involved in gene expression at both the transcriptional and post-transcriptional levels
  • is associated with cancer stem cell-enriched populations of several epithelial tumor cells and the different phenotypes depend on the origin of tumor cells
  • CTCFL is enriched at transcriptional start sites and regions bound by transcription factors
  • plays crucial roles during spermatogenesis and production of sperm
  • is involved in the regulation of cancer stem cells (CSCs) cellular and molecular features such as self-renewal, chemo-resistance, tumorigenicity, sphere-forming ability, and migration capacity
  • DNA binding protein which is involved in tumorigenesis
  • pro-invasive role for CTCFL in melanoma via transcriptional reprogramming
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • CTCFL positively regulates MAGEA2, MAGEA3, MAGEA4 by binding and inducing a shift to a more open chromatin conformation with promoter demethylation for MAGEA3 or independent of promoter demethylation in case of MAGEA2 and MAGEA4
  • directly responsible for the transcriptional activation of PRSS50
  • in cancer cells, key role for CTCFL as the main mediator of transcriptional deregulation of NOTCH3
  • CTCFL and Sp1 have opposite effects on the regulation of MAGEA1 gene expression
  • interaction between MAGEA1 and CTCF, which is required for the binding of MAGEA1 to the CTCFL promoter and is critical for the recruitment of DNMT3A
  • binds near the promoter of TFGB1, a well-recognized factor involved in the transition towards an invasive state, which coincided with increased expression of TGFB1
    • cell & other
    REGULATION
    inhibited by MAGEA1 that inhibits the expression of CTCL via increased promoter methylation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in juvenile angiofibroma in the posterior nasal cavity of adolescent males
    tumoral     --other  
    aberrantly expressed in melanoma
    tumoral     --over  
    in high-grade epithelial ovarian cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • candidate protein for the elusive epigenetic reprogramming factor acting in the male germ line
  • potential practical applications as a molecular biomarker of breast cancer
    • Marker
  • aberrant CTCFL hypomethylation is a promising biomarker for the prognosis of hepatocellular carcinoma
    • Therapy target
  • has the potential to be used as a prognostic biomarker and to yield novel drug targets among the genes CTCFL controls in serous ovarian cancer (SOC) patients
    • ANIMAL & CELL MODELS
  • Mice homozygous for the null allele had a defect in spermatogenesis that resulted in small testes associated with increased cell death