UniProt:P49711 CTCF

chain
  • chain:1-727
checksum 2110538B65DC5706
comment
  • FUNCTION Chromatin binding factor that binds to DNA sequence specific sites and regulates the 3D structure of chromatin (PubMed:16949368, PubMed:18347100, PubMed:18654629, PubMed:19322193). Binds together strands of DNA, thus forming chromatin loops, and anchors DNA to cellular structures, such as the nuclear lamina (PubMed:18347100, PubMed:18654629, PubMed:19322193). Defines the boundaries between active and heterochromatic DNA via binding to chromatin insulators, thereby preventing interaction between promoter and nearby enhancers and silencers (PubMed:18347100, PubMed:18654629, PubMed:19322193). Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus (PubMed:16107875, PubMed:16815976, PubMed:17827499). On the maternal allele, binding within the H19 imprinting control region (ICR) mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to IGF2 (By similarity). Mediates interchromosomal association between IGF2/H19 and WSB1/NF1 and may direct distant DNA segments to a common transcription factory (By similarity). Regulates asynchronous replication of IGF2/H19 (By similarity). Plays a critical role in gene silencing over considerable distances in the genome (By similarity). Preferentially interacts with unmethylated DNA, preventing spreading of CpG methylation and maintaining methylation-free zones (PubMed:18413740). Inversely, binding to target sites is prevented by CpG methylation (PubMed:18413740). Plays an important role in chromatin remodeling (PubMed:18413740). Can dimerize when it is bound to different DNA sequences, mediating long-range chromatin looping (PubMed:12191639). Causes local loss of histone acetylation and gain of histone methylation in the beta-globin locus, without affecting transcription (PubMed:12191639). When bound to chromatin, it provides an anchor point for nucleosomes positioning (PubMed:12191639). Seems to be essential for homologous X-chromosome pairing (By similarity). May participate with Tsix in establishing a regulatable epigenetic switch for X chromosome inactivation (PubMed:11743158). May play a role in preventing the propagation of stable methylation at the escape genes from X-inactivation (PubMed:11743158). Involved in sister chromatid cohesion (PubMed:12191639). Associates with both centromeres and chromosomal arms during metaphase and required for cohesin localization to CTCF sites (PubMed:18550811). Plays a role in the recruitment of CENPE to the pericentromeric/centromeric regions of the chromosome during mitosis (PubMed:26321640). Acts as a transcriptional repressor binding to promoters of vertebrate MYC gene and BAG1 gene (PubMed:18413740, PubMed:8649389, PubMed:9591631). Also binds to the PLK and PIM1 promoters (PubMed:12191639). Acts as a transcriptional activator of APP (PubMed:9407128). Regulates APOA1/C3/A4/A5 gene cluster and controls MHC class II gene expression (PubMed:18347100, PubMed:19322193). Plays an essential role in oocyte and preimplantation embryo development by activating or repressing transcription (By similarity). Seems to act as tumor suppressor (PubMed:12191639).SUBUNIT Interacts with CHD8 (PubMed:16949368). Interacts with LLPH (By similarity). Interacts with CENPE (PubMed:26321640). Interacts with BRD2; promoting BRD2 recruitment to chromatin (By similarity).INTERACTION May translocate to the nucleolus upon cell differentiation. Associates with both centromeres and chromosomal arms during metaphase. Associates with the H19 ICR in mitotic chromosomes. May be preferentially excluded from heterochromatin during interphase.ALTERNATIVE PRODUCTS Ubiquitous. Absent in primary spermatocytes.DOMAIN The 11 zinc fingers are highly conserved among vertebrates, exhibiting almost identical amino acid sequences. Different subsets or combination of individual zinc fingers gives the ability to CTCF to recognize multiple DNA target sites.PTM Sumoylated on Lys-74 and Lys-689; sumoylation of CTCF contributes to the repressive function of CTCF on the MYC P2 promoter.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS More than 13'00 CTCF-binding sites in potential insulators were identified in the human genome.SIMILARITY Belongs to the CTCF zinc-finger protein family.SEQUENCE CAUTION Extended N-terminus.
crossReference
databaseName UniProt
dbId 52996
description
  • recommendedName: Transcriptional repressor CTCF alternativeName: 11-zinc finger protein alternativeName: CCCTC-binding factor alternativeName: CTCFL paralog
displayName UniProt:P49711 CTCF
geneName
  • CTCF
identifier P49711
isSequenceChanged false
keyword
  • 3D-structure
  • Acetylation
  • Activator
  • Alternative splicing
  • Centromere
  • Chromatin regulator
  • Chromosome
  • Chromosome partition
  • Direct protein sequencing
  • Disease variant
  • DNA-binding
  • Intellectual disability
  • Isopeptide bond
  • Metal-binding
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Repressor
  • Transcription
  • Transcription regulation
  • Tumor suppressor
  • Ubl conjugation
  • Zinc
  • Zinc-finger
modified [InstanceEdit:9983091] Weiser, Joel, 2026-02-20
moleculeType Protein
name
  • CTCF
otherIdentifier
  • 10664
  • 11755514_s_at
  • 16820193
  • 202521_PM_at
  • 202521_at
  • 35319_at
  • 3532394
  • 3665604
  • 3665607
  • 3665608
  • 3665612
  • 3665613
  • 3665614
  • 3665615
  • 3665616
  • 3665617
  • 3665618
  • 3665619
  • 3665620
  • 3665621
  • 3665622
  • 3665623
  • 3665624
  • 3665625
  • 3665630
  • 3665631
  • 3665633
  • 3665634
  • 3665635
  • 7996593
  • A_14_P103409
  • A_14_P116120
  • A_14_P117085
  • A_24_P347704
  • A_24_P356254
  • A_32_P149043
  • GE59031
  • GO:0000122
  • GO:0000775
  • GO:0000793
  • GO:0000976
  • GO:0000978
  • GO:0000987
  • GO:0001221
  • GO:0001227
  • GO:0001673
  • GO:0001701
  • GO:0003677
  • GO:0003682
  • GO:0003700
  • GO:0005515
  • GO:0005634
  • GO:0005654
  • GO:0005694
  • GO:0005730
  • GO:0006325
  • GO:0006346
  • GO:0006355
  • GO:0006357
  • GO:0007005
  • GO:0007059
  • GO:0007507
  • GO:0008270
  • GO:0008285
  • GO:0010467
  • GO:0010557
  • GO:0010628
  • GO:0010629
  • GO:0030154
  • GO:0034502
  • GO:0040029
  • GO:0043035
  • GO:0043565
  • GO:0044027
  • GO:0045892
  • GO:0045893
  • GO:0045944
  • GO:0046872
  • GO:0048856
  • GO:0055007
  • GO:0055013
  • GO:0070602
  • GO:0071459
  • GO:0071514
  • GO:0140587
  • GO:0140588
  • GO:1990837
  • HMNXSV003025160
  • ILMN_1786015
  • PH_hs_0024876
  • TC16000542.hg
  • U25435_at
  • g5729789_3p_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • CTCF_HUMAN
  • B5MC38
  • Q53XI7
  • Q59EL8
sequenceLength 727
species [Species:48887] Homo sapiens
stId uniprot:P49711
url http://purl.uniprot.org/uniprot/P49711

Referrals

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