Human Gene CTCFL (ENST00000243914.8_12) from GENCODE V47lift37
  Description: CCCTC-binding factor like, transcript variant 19 (from RefSeq NM_001386994.1)
Gencode Transcript: ENST00000243914.8_12
Gencode Gene: ENSG00000124092.13_16
Transcript (Including UTRs)
   Position: hg19 chr20:56,072,222-56,100,196 Size: 27,975 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr20:56,073,606-56,099,261 Size: 25,656 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:56,072,222-56,100,196)mRNA (may differ from genome)Protein (663 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsHGNCMalacards
MGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CTCFL_HUMAN
DESCRIPTION: RecName: Full=Transcriptional repressor CTCFL; AltName: Full=Brother of the regulator of imprinted sites; AltName: Full=CCCTC-binding factor; AltName: Full=CTCF paralog; AltName: Full=CTCF-like protein; AltName: Full=Cancer/testis antigen 27; Short=CT27; AltName: Full=Zinc finger protein CTCF-T;
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.
SUBUNIT: Interacts with histones, PRMT7 and SETD1A. Interacts (via N-terminus) with BAG6/BAT3.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Testis specific. Specifically expressed in primary spermatocytes.
DEVELOPMENTAL STAGE: Is up-regulated in primary spermatocytes (expression overlapping with the genome-wide erasure of methylation) to become silenced on activation of CTCF in post- meiotic germline cells (expression corresponding to DNA remethylation).
SIMILARITY: Belongs to the CTCF zinc-finger protein family.
SIMILARITY: Contains 11 C2H2-type zinc fingers.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CTCFL
Diseases sorted by gene-association score: spherocytosis, type 4 (5), silver-russell syndrome (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.55 RPKM in Testis
Total median expression: 3.79 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.80124-0.442 Picture PostScript Text
3' UTR -305.601384-0.221 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF13912 - C2H2-type zinc finger

SCOP Domains:
57667 - beta-beta-alpha zinc fingers

ModBase Predicted Comparative 3D Structure on Q8NI51
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0042393 histone binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006325 chromatin organization
GO:0006349 regulation of gene expression by genetic imprinting
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007049 cell cycle
GO:0010628 positive regulation of gene expression
GO:0016571 histone methylation
GO:0043046 DNA methylation involved in gamete generation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051569 regulation of histone H3-K4 methylation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  DQ778111 - Homo sapiens BORIS transcription factor transcript variant B1 mRNA, complete cds, alternatively spliced.
DQ778110 - Homo sapiens BORIS transcription factor transcript variant C1 mRNA, complete cds, alternatively spliced.
AF336042 - Homo sapiens nuclear DNA binding factor (BORIS) mRNA, complete cds.
BC060763 - Homo sapiens cDNA clone IMAGE:4825782, containing frame-shift errors.
DQ294738 - Homo sapiens BORIS-like protein (CTCFL) mRNA, complete cds, alternatively spliced.
DQ778108 - Homo sapiens BORIS transcription factor transcript variant A1 mRNA, complete cds, alternatively spliced.
DQ778109 - Homo sapiens BORIS transcription factor transcript variant A2 mRNA, complete cds, alternatively spliced.
DQ778112 - Homo sapiens BORIS transcription factor transcript variant A3 mRNA, complete cds, alternatively spliced.
AY071919 - Homo sapiens zinc finger protein CTCF-T mRNA, complete cds.
AK128070 - Homo sapiens cDNA FLJ46191 fis, clone TESTI4005470, highly similar to Transcriptional repressor CTCFL.
BC130486 - Homo sapiens CCCTC-binding factor (zinc finger protein)-like, mRNA (cDNA clone MGC:163358 IMAGE:40146517), complete cds.
AK313990 - Homo sapiens cDNA, FLJ94642, highly similar to Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.
KJ900198 - Synthetic construct Homo sapiens clone ccsbBroadEn_09592 CTCFL gene, encodes complete protein.
DQ778115 - Homo sapiens BORIS transcription factor transcript variant C3 mRNA, complete cds, alternatively spliced.
DQ778116 - Homo sapiens BORIS transcription factor transcript variant C4 mRNA, complete cds, alternatively spliced.
DQ778117 - Homo sapiens BORIS transcription factor transcript variant C5 mRNA, complete cds, alternatively spliced.
DQ778118 - Homo sapiens BORIS transcription factor transcript variant C8 mRNA, complete cds, alternatively spliced.
DQ778124 - Homo sapiens BORIS transcription factor transcript variant B2 mRNA, complete cds, alternatively spliced.
DQ778125 - Homo sapiens BORIS transcription factor transcript variant B3 mRNA, complete cds, alternatively spliced.
DQ778121 - Homo sapiens BORIS transcription factor transcript variant C6 mRNA, complete cds, alternatively spliced.
DQ778126 - Homo sapiens BORIS transcription factor transcript variant B4 mRNA, complete cds, alternatively spliced.
DQ778127 - Homo sapiens BORIS transcription factor transcript variant B5 mRNA, complete cds, alternatively spliced.
DQ778122 - Homo sapiens BORIS transcription factor transcript variant A5 mRNA, complete cds, alternatively spliced.
DQ778123 - Homo sapiens BORIS transcription factor transcript variant A6 mRNA, complete cds, alternatively spliced.
DQ778119 - Homo sapiens BORIS transcription factor transcript variant C7 mRNA, complete cds, alternatively spliced.
DQ778120 - Homo sapiens BORIS transcription factor transcript variant C9 mRNA, complete cds, alternatively spliced.
DQ778128 - Homo sapiens BORIS transcription factor transcript variant B6 mRNA, complete cds, alternatively spliced.
DQ778129 - Homo sapiens BORIS transcription factor transcript variant B7 mRNA, complete cds, alternatively spliced.
DQ778114 - Homo sapiens BORIS transcription factor transcript variant C2 mRNA, complete cds, alternatively spliced.
DQ778113 - Homo sapiens BORIS transcription factor transcript variant A4 mRNA, complete cds, alternatively spliced.
DQ778130 - Homo sapiens BORIS transcription factor transcript variant F6 mRNA, partial cds, alternatively spliced.
DQ778131 - Homo sapiens BORIS transcription factor transcript variant F7 mRNA, partial cds, alternatively spliced.
JD358574 - Sequence 339598 from Patent EP1572962.
JD088154 - Sequence 69178 from Patent EP1572962.
JD102901 - Sequence 83925 from Patent EP1572962.
JD307243 - Sequence 288267 from Patent EP1572962.
JD399176 - Sequence 380200 from Patent EP1572962.
JD385442 - Sequence 366466 from Patent EP1572962.
JD094463 - Sequence 75487 from Patent EP1572962.
JD302602 - Sequence 283626 from Patent EP1572962.
JD049228 - Sequence 30252 from Patent EP1572962.
JD113015 - Sequence 94039 from Patent EP1572962.
JD302694 - Sequence 283718 from Patent EP1572962.
JD219173 - Sequence 200197 from Patent EP1572962.
JD273961 - Sequence 254985 from Patent EP1572962.
JD449720 - Sequence 430744 from Patent EP1572962.
JD019459 - Sequence 483 from Patent EP1572962.
JD029479 - Sequence 10503 from Patent EP1572962.
JD019480 - Sequence 504 from Patent EP1572962.
JD034073 - Sequence 15097 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0S6W1, A1L4C6, A6XGL8, A6XGM2, A6XGM3, A6XGM8, A6XGN0, A6XGN1, A6XGN2, A6XGN3, A6XGN4, BORIS, CTCFL_HUMAN, E7EQ27, E7EUE3, E9PBA9, ENST00000243914.1, ENST00000243914.2, ENST00000243914.3, ENST00000243914.4, ENST00000243914.5, ENST00000243914.6, ENST00000243914.7, NM_001386994, Q5JUG4, Q8NI51, Q9BZ30, Q9NQJ3, uc317eng.1, uc317eng.2
UCSC ID: ENST00000243914.8_12
RefSeq Accession: NM_001386993.1
Protein: Q8NI51 (aka CTCFL_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.