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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
    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
    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
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis    Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegerm cell
    cell lineage
    cell lines
    at STAGE
  • 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
    intraspecies paralog to CTCF
  • cancer testis antigen (CTA) family
  • CTCF zinc-finger protein family
  • CATEGORY regulatory , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies
  • 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
    a component
    DNA binding
    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
    inhibited by MAGEA1 that inhibits the expression of CTCL via increased promoter methylation
    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
    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
  • Mice homozygous for the null allele had a defect in spermatogenesis that resulted in small testes associated with increased cell death