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Aliases for CTCFL Gene

Aliases for CTCFL Gene

  • CCCTC-Binding Factor (Zinc Finger Protein)-Like 2 3
  • Cancer/Testis Antigen 27 2 3 4
  • BORIS 3 4 6
  • Brother Of The Regulator Of Imprinted Sites 3 4
  • Zinc Finger Protein CTCF-T 3 4
  • CTCF-Like Protein 3 4
  • CTCF Paralog 3 4
  • CT27 3 4
  • Putative High Mobility Group Protein B1-Like 1 3
  • Putative High Mobility Group Protein 1-Like 1 3
  • Transcriptional Repressor CTCFL 3
  • CCCTC-Binding Factor 4
  • BORIS-Like Protein 3
  • DJ579F20.2 3
  • HMG-1L1 3
  • HMGB1L1 3
  • CTCF-T 3

External Ids for CTCFL Gene

Summaries for CTCFL Gene

Entrez Gene Summary for CTCFL Gene

  • CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

GeneCards Summary for CTCFL Gene

CTCFL (CCCTC-Binding Factor (Zinc Finger Protein)-Like) is a Protein Coding gene. Among its related pathways are Chromatin Regulation / Acetylation. GO annotations related to this gene include sequence-specific DNA binding and histone binding. An important paralog of this gene is HINFP.

UniProtKB/Swiss-Prot for CTCFL Gene

  • Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 Arg-3 to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3 lysine 4 (H3K4me2) of MYC and BRCA1 promoters.

Gene Wiki entry for CTCFL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTCFL Gene

Genomics for CTCFL Gene

Genomic Location for CTCFL Gene

Start:
57,495,965 bp from pter
End:
57,525,652 bp from pter
Size:
29,688 bases
Orientation:
Minus strand

Genomic View for CTCFL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CTCFL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTCFL Gene

Regulatory Elements for CTCFL Gene

Proteins for CTCFL Gene

  • Protein details for CTCFL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NI51-CTCFL_HUMAN
    Recommended name:
    Transcriptional repressor CTCFL
    Protein Accession:
    Q8NI51
    Secondary Accessions:
    • A0S6W1
    • A1L4C6
    • A6XGL8
    • A6XGM2
    • A6XGM3
    • A6XGM8
    • A6XGN0
    • A6XGN1
    • A6XGN2
    • A6XGN3
    • A6XGN4
    • E7EQ27
    • E7EUE3
    • E9PBA9
    • Q5JUG4
    • Q9BZ30
    • Q9NQJ3

    Protein attributes for CTCFL Gene

    Size:
    663 amino acids
    Molecular mass:
    75747 Da
    Quaternary structure:
    • Interacts with histones, PRMT7 and SETD1A. Interacts (via N-terminus) with BAG6/BAT3.

    Alternative splice isoforms for CTCFL Gene

neXtProt entry for CTCFL Gene

Proteomics data for CTCFL Gene at MOPED

Post-translational modifications for CTCFL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CTCFL Gene

Domains for CTCFL Gene

Gene Families for CTCFL Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

Protein Domains for CTCFL Gene

UniProtKB/Swiss-Prot:

CTCFL_HUMAN
Family:
  • Belongs to the CTCF zinc-finger protein family.:
    • Q8NI51
Similarity:
  • Contains 11 C2H2-type zinc fingers.:
    • Q8NI51
genes like me logo Genes that share domains with CTCFL: view

Function for CTCFL Gene

Molecular function for CTCFL Gene

UniProtKB/Swiss-Prot Function: Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 Arg-3 to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3 lysine 4 (H3K4me2) of MYC and BRCA1 promoters.

Gene Ontology (GO) - Molecular Function for CTCFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 16140944
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 16140944
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IDA 18413740
GO:0005515 protein binding IPI 18765639
genes like me logo Genes that share ontologies with CTCFL: view
genes like me logo Genes that share phenotypes with CTCFL: view
Targeting motifs for CTCFL Gene
HOMER Transcription Factor Regulatory Elements motif CTCFL
  • Consensus sequence: CNNBRGCGCCCCCTGSTGGC Submotif: canonical Cell Type: K562 GeoId: GSE32465

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA and Transcription Factor Targeting for CTCFL Gene

Localization for CTCFL Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTCFL Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CTCFL Gene COMPARTMENTS Subcellular localization image for CTCFL gene
Compartment Confidence
nucleus 5
cytosol 3
endosome 1

Gene Ontology (GO) - Cellular Components for CTCFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CTCFL: view

Pathways for CTCFL Gene

genes like me logo Genes that share pathways with CTCFL: view

Pathways by source for CTCFL Gene

1 Cell Signaling Technology pathway for CTCFL Gene

Gene Ontology (GO) - Biological Process for CTCFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006349 regulation of gene expression by genetic imprinting ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0007049 cell cycle IEA --
GO:0010628 positive regulation of gene expression IDA 18413740
GO:0016571 histone methylation ISS --
genes like me logo Genes that share ontologies with CTCFL: view

Compounds for CTCFL Gene

(1) Novoseek inferred chemical compound relationships for CTCFL Gene

Compound -log(P) Hits PubMed IDs
5-aza-2deoxycytidine 77.9 6
genes like me logo Genes that share compounds with CTCFL: view

Transcripts for CTCFL Gene

Unigene Clusters for CTCFL Gene

CCCTC-binding factor (zinc finger protein)-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CTCFL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1:
SP2: -
SP3:

Relevant External Links for CTCFL Gene

GeneLoc Exon Structure for
CTCFL
ECgene alternative splicing isoforms for
CTCFL

Expression for CTCFL Gene

mRNA expression in normal human tissues for CTCFL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTCFL Gene

This gene is overexpressed in Testis (42.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CTCFL Gene

SOURCE GeneReport for Unigene cluster for CTCFL Gene Hs.131543

mRNA Expression by UniProt/SwissProt for CTCFL Gene

Q8NI51-CTCFL_HUMAN
Tissue specificity: Testis specific. Specifically expressed in primary spermatocytes
genes like me logo Genes that share expressions with CTCFL: view

Orthologs for CTCFL Gene

This gene was present in the common ancestor of animals.

Orthologs for CTCFL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTCFL 36
  • 98.62 (n)
  • 97.71 (a)
CTCFL 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BORIS 37
  • 66 (a)
OneToOne
CTCFL 36
  • 76.28 (n)
  • 66.94 (a)
dog
(Canis familiaris)
Mammalia CTCFL 36
  • 82.1 (n)
  • 77.3 (a)
CTCFL 37
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctcfl 36
  • 68.75 (n)
  • 60.83 (a)
Ctcfl 16
Ctcfl 37
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CTCFL 37
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTCFL 37
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100360757 36
  • 67.56 (n)
  • 60.98 (a)
lizard
(Anolis carolinensis)
Reptilia CTCFL 37
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:112083 37
  • 18 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CTCF 37
  • 24 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2315 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8793 37
  • 20 (a)
OneToOne
Species with no ortholog for CTCFL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CTCFL Gene

ENSEMBL:
Gene Tree for CTCFL (if available)
TreeFam:
Gene Tree for CTCFL (if available)

Paralogs for CTCFL Gene

Paralogs for CTCFL Gene

Selected SIMAP similar genes for CTCFL Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CTCFL: view

Variants for CTCFL Gene

Sequence variations from dbSNP and Humsavar for CTCFL Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs717798 -- 57,519,762(+) CATTC(C/T)CTGTA intron-variant
rs1119925 -- 57,521,050(-) agctt(C/T)tgata intron-variant
rs1887733 -- 57,505,923(+) CCCGC(C/T)TGATT intron-variant
rs1984422 -- 57,517,491(-) AAACC(A/G)GCCTG intron-variant
rs1985098 -- 57,517,346(-) TGAGC(C/T)GAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CTCFL Gene

Variant ID Type Subtype PubMed ID
esv2666374 CNV Deletion 23128226
nsv3425 CNV Insertion 18451855
nsv828758 CNV Gain 20364138
esv25156 CNV Gain 19812545

Relevant External Links for CTCFL Gene

HapMap Linkage Disequilibrium report
CTCFL
Human Gene Mutation Database (HGMD)
CTCFL

Disorders for CTCFL Gene

(4) Novoseek inferred disease relationships for CTCFL Gene

Disease -log(P) Hits PubMed IDs
testicular cancer 48.6 1
cancer 17.8 11
cancer lung 11.7 8
tumors 5.38 4

Relevant External Links for CTCFL

Genetic Association Database (GAD)
CTCFL
Human Genome Epidemiology (HuGE) Navigator
CTCFL
genes like me logo Genes that share disorders with CTCFL: view

No data available for UniProtKB/Swiss-Prot for CTCFL Gene

Publications for CTCFL Gene

  1. The testis-specific factor CTCFL cooperates with the protein methyltransferase PRMT7 in H19 imprinting control region methylation. (PMID: 17048991) Jelinic P. … Shaw P. (PLoS Biol. 2006) 3 4 23
  2. Expression of the CTCF-paralogous cancer-testis gene, brother of the regulator of imprinted sites (BORIS), is regulated by three alternative promoters modulated by CpG methylation and by CTCF and p53 transcription factors. (PMID: 17962299) Renaud S. … Lobanenkov V. (Nucleic Acids Res. 2007) 3 4 23
  3. BORIS, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with CTCF, the insulator protein involved in reading imprinting marks in the soma. (PMID: 12011441) Loukinov D.I. … Lobanenkov V.V. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 23
  4. The novel BORIS + CTCF gene family is uniquely involved in the epigenetics of normal biology and cancer. (PMID: 12191639) Klenova E.M. … Lobanenkov V.V. (Semin. Cancer Biol. 2002) 3 4 23
  5. DNA methyltransferase 1 and 3B activate BAG-1 expression via recruitment of CTCFL/BORIS and modulation of promoter histone methylation. (PMID: 18413740) Sun L. … Gius D. (Cancer Res. 2008) 3 4

Products for CTCFL Gene

Sources for CTCFL Gene

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