CTCF
entrez
10664
canonical
uniprot
P49711
canonical
ensembl
ENSG00000102974
resolver
ensp
ENSP00000264010
resolver
ensp
ENSP00000384707
resolver
ensp
ENSP00000493495
resolver
ensp
ENSP00000494443
resolver
ensp
ENSP00000495218
resolver
ensp
ENSP00000631451
resolver
enst
ENST00000645306
resolver
enst
ENST00000646771
resolver
enst
ENST00000961392
resolver
genesymbol
CTCF
resolver
hgnc
HGNC:13723
resolver
uniprot
A0A2R8YFL0
resolver
uniprot
B5MC38
resolver
uniprot
Q53XI7
resolver
uniprot
Q59EL8
resolver
uniprot_entry
A0A2R8YFL0_HUMAN
resolver
uniprot_entry
CTCF_HUMAN
resolver
uniprot_sec
B5MC38
resolver
uniprot_sec
Q53XI7
resolver
uniprot_sec
Q59EL8
resolver
amino_acid_sequence
MEGDAVEAIVEESETFIKGKERKTYQRRREGGQEEDACHLPQNQTDGGEVVQDVNSSVQMVMMEQLDPTLLQMKTEVMEGTVAPEAEAAVDDTQIITLQVVNMEEQPINIGELQLVQVPVPVTVPVATTSVEELQGAYENEVSKEGLAESEPMICHTLPLPEGFQVVKVGANGEVETLEQGELPPQEDPSWQKDPDYQPPAKKTKKTKKSKLRYTEEGKDVDVSVYDFEEEQQEGLLSEVNAEKVVGNMKPPKPTKIKKKGVKKTFQCELCSYTCPRRSNLDRHMKSHTDERPHKCHLCGRAFRTVTLLRNHLNTHTGTRPHKCPDCDMAFVTSGELVRHRRYKHTHEKPFKCSMCDYASVEVSKLKRHIRSHTGERPFQCSLCSYASRDTYKLKRHMRTHSGEKPYECYICHARFTQSGTMKMHILQKHTENVAKFHCPHCDTVIARKSDLGVHLRKQHSYIEQGKKCRYCDAVFHERYALIQHQKSHKNEKRFKCDQCDYACRQERHMIMHKRTHTGEKPYACSHCDKTFRQKQLLDMHFKRYHDPNFVPAAFVCSKCGKTFTRRNTMARHADNCAGPDGVEGENGGETKKSKRGRKRKMRSKKEDSSDSENAEPDLDDNEDEEEPAVEIEPEPEPQPVTPAPPPAKKRRGRPPGRTNQPKQNQPTAIIQVEDQNTGAIENIIVEVKKEPDAEPAEGEEEEAQPAATDAPNGDLTPEMILSMMDR
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 21 (MRD21) [MIM:615502]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD21 features include short stature, microcephaly, and developmental delay. {ECO:0000269|PubMed:23746550}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q61164, ECO:0000269|PubMed:11743158, ECO:0000269|PubMed:16107875, ECO:0000269|PubMed:16815976, ECO:0000269|PubMed:16949368, ECO:0000269|PubMed:17827499, ECO:0000269|PubMed:18347100, ECO:0000269|PubMed:18413740, ECO:0000269|PubMed:18550811, ECO:0000269|PubMed:18654629, ECO:0000269|PubMed:19322193, ECO:0000269|PubMed:26321640, ECO:0000269|PubMed:8649389, ECO:0000269|PubMed:9407128, ECO:0000269|PubMed:9591631, ECO:0000303|PubMed:12191639}.
uniprot
proteins
mass_dalton
82785
uniprot
proteins
post_translational_modification
PTM: Sumoylated on Lys-74 and Lys-689; sumoylation of CTCF contributes to the repressive function of CTCF on the MYC P2 promoter. {ECO:0000250|UniProtKB:Q61164}.
uniprot
proteins
protein_family
CTCF zinc-finger protein family
uniprot
proteins
pubmed
11743158
uniprot
proteins
pubmed
11782357
uniprot
proteins
pubmed
12191639
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16107875
uniprot
proteins
pubmed
16595548
uniprot
proteins
pubmed
16815976
uniprot
proteins
pubmed
16949368
uniprot
proteins
pubmed
17827499
uniprot
proteins
pubmed
18347100
uniprot
proteins
pubmed
18413740
uniprot
proteins
pubmed
18550811
uniprot
proteins
pubmed
18654629
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19322193
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23746550
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
26321640
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28319062
uniprot
proteins
pubmed
8649389
uniprot
proteins
pubmed
9407128
uniprot
proteins
pubmed
9591631
uniprot
proteins
sequence_length
727
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:28319062}. Chromosome {ECO:0000269|PubMed:26321640}. Chromosome, centromere {ECO:0000269|PubMed:26321640}. Note=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.
uniprot
proteins