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Entry version 192 (13 Feb 2019)
Sequence version 1 (01 Oct 1996)
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Protein

Transcriptional repressor CTCF

Gene

CTCF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Chromatin binding factor that binds to DNA sequence specific sites. Involved in transcriptional regulation by binding to chromatin insulators and preventing interaction between promoter and nearby enhancers and silencers. Acts as transcriptional repressor binding to promoters of vertebrate MYC gene and BAG1 gene. Also binds to the PLK and PIM1 promoters. Acts as a transcriptional activator of APP. Regulates APOA1/C3/A4/A5 gene cluster and controls MHC class II gene expression. Plays an essential role in oocyte and preimplantation embryo development by activating or repressing transcription. Seems to act as tumor suppressor. Plays a critical role in the epigenetic regulation. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. 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. Plays a critical role in gene silencing over considerable distances in the genome. Preferentially interacts with unmethylated DNA, preventing spreading of CpG methylation and maintaining methylation-free zones. Inversely, binding to target sites is prevented by CpG methylation. Plays a important role in chromatin remodeling. Can dimerize when it is bound to different DNA sequences, mediating long-range chromatin looping. Mediates interchromosomal association between IGF2/H19 and WSB1/NF1 and may direct distant DNA segments to a common transcription factory. Causes local loss of histone acetylation and gain of histone methylation in the beta-globin locus, without affecting transcription. When bound to chromatin, it provides an anchor point for nucleosomes positioning. Seems to be essential for homologous X-chromosome pairing. May participate with Tsix in establishing a regulatable epigenetic switch for X chromosome inactivation. May play a role in preventing the propagation of stable methylation at the escape genes from X- inactivation. Involved in sister chromatid cohesion. Associates with both centromeres and chromosomal arms during metaphase and required for cohesin localization to CTCF sites. Regulates asynchronous replication of IGF2/H19. Plays a role in the recruitment of CENPE to the pericentromeric/centromeric regions of the chromosome during mitosis (PubMed:26321640).11 Publications

Miscellaneous

More than 13'00 CTCF-binding sites in potential insulators were identified in the human genome.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri266 – 288C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri294 – 316C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri322 – 345C2H2-type 3PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri351 – 373C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri379 – 401C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri407 – 430C2H2-type 6PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri437 – 460C2H2-type 7PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri467 – 489C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri495 – 517C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri523 – 546C2H2-type 10PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri555 – 577C2H2-type 11; atypicalPROSITE-ProRule annotationAdd BLAST23

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Chromatin regulator, DNA-binding, Repressor
Biological processChromosome partition, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P49711

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P49711

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transcriptional repressor CTCF
Alternative name(s):
11-zinc finger protein
CCCTC-binding factor
CTCFL paralog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CTCF
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000102974.14

Human Gene Nomenclature Database

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HGNCi
HGNC:13723 CTCF

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604167 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P49711

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Centromere, Chromosome, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, autosomal dominant 21 (MRD21)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615502
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070776567R → W in MRD21. 1 PublicationCorresponds to variant dbSNP:rs879255516EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation, Tumor suppressor

Organism-specific databases

DisGeNET

More...
DisGeNETi
10664

MalaCards human disease database

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MalaCardsi
CTCF
MIMi615502 phenotype

Open Targets

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OpenTargetsi
ENSG00000102974

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
363611 Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26998

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CTCF

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1706179

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000472281 – 727Transcriptional repressor CTCFAdd BLAST727

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki18Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki74Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Cross-linki219Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei289PhosphothreonineCombined sources1
Modified residuei317PhosphothreonineCombined sources1
Modified residuei374PhosphothreonineCombined sources1
Modified residuei402PhosphoserineCombined sources1
Modified residuei609PhosphoserineCombined sources1
Modified residuei610PhosphoserineCombined sources1
Modified residuei612PhosphoserineCombined sources1
Cross-linki689Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylated on Lys-74 and Lys-689; sumoylation of CTCF contributes to the repressive function of CTCF on the MYC P2 promoter.By similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P49711

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P49711

MaxQB - The MaxQuant DataBase

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MaxQBi
P49711

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P49711

PeptideAtlas

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PeptideAtlasi
P49711

PRoteomics IDEntifications database

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PRIDEi
P49711

ProteomicsDB human proteome resource

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ProteomicsDBi
56053

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P49711

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P49711

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Absent in primary spermatocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000102974 Expressed in 245 organ(s), highest expression level in amniotic fluid

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P49711 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P49711 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB062550
CAB068181
CAB068182
HPA004122

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CHD8 (PubMed:16949368). Interacts with LLPH (By similarity). Interacts with CENPE (PubMed:26321640).By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115906, 62 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P49711

Database of interacting proteins

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DIPi
DIP-35252N

Protein interaction database and analysis system

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IntActi
P49711, 35 interactors

Molecular INTeraction database

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MINTi
P49711

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264010

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1727
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X6HNMR-A515-587[»]
2CT1NMR-A399-462[»]
5K5HX-ray3.11A348-464[»]
5K5IX-ray2.19A378-489[»]
5K5JX-ray2.29A378-489[»]
5K5LX-ray3.12E/F/G405-492[»]
5KKQX-ray1.74A/D321-465[»]
5T00X-ray2.19A/D321-465[»]
5T0UX-ray3.20A/D294-465[»]
5UNDX-ray2.55A/B348-547[»]
5YEFX-ray2.81A/B/G/J292-490[»]
5YEGX-ray2.00A349-490[»]
B349-489[»]
5YEHX-ray2.33A/B349-490[»]
5YELX-ray2.96A/B405-580[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P49711

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P49711

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P49711

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CTCF zinc-finger protein family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri266 – 288C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri294 – 316C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri322 – 345C2H2-type 3PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri351 – 373C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri379 – 401C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri407 – 430C2H2-type 6PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri437 – 460C2H2-type 7PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri467 – 489C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri495 – 517C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri523 – 546C2H2-type 10PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri555 – 577C2H2-type 11; atypicalPROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156672

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000276534

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000350

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P49711

Identification of Orthologs from Complete Genome Data

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OMAi
EGEPMIC

Database of Orthologous Groups

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OrthoDBi
1318335at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P49711

TreeFam database of animal gene trees

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TreeFami
TF106430

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00096 zf-C2H2, 6 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00355 ZnF_C2H2, 11 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57667 SSF57667, 7 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 8 hits
PS50157 ZINC_FINGER_C2H2_2, 11 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P49711-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEGDAVEAIV EESETFIKGK ERKTYQRRRE GGQEEDACHL PQNQTDGGEV
60 70 80 90 100
VQDVNSSVQM VMMEQLDPTL LQMKTEVMEG TVAPEAEAAV DDTQIITLQV
110 120 130 140 150
VNMEEQPINI GELQLVQVPV PVTVPVATTS VEELQGAYEN EVSKEGLAES
160 170 180 190 200
EPMICHTLPL PEGFQVVKVG ANGEVETLEQ GELPPQEDPS WQKDPDYQPP
210 220 230 240 250
AKKTKKTKKS KLRYTEEGKD VDVSVYDFEE EQQEGLLSEV NAEKVVGNMK
260 270 280 290 300
PPKPTKIKKK GVKKTFQCEL CSYTCPRRSN LDRHMKSHTD ERPHKCHLCG
310 320 330 340 350
RAFRTVTLLR NHLNTHTGTR PHKCPDCDMA FVTSGELVRH RRYKHTHEKP
360 370 380 390 400
FKCSMCDYAS VEVSKLKRHI RSHTGERPFQ CSLCSYASRD TYKLKRHMRT
410 420 430 440 450
HSGEKPYECY ICHARFTQSG TMKMHILQKH TENVAKFHCP HCDTVIARKS
460 470 480 490 500
DLGVHLRKQH SYIEQGKKCR YCDAVFHERY ALIQHQKSHK NEKRFKCDQC
510 520 530 540 550
DYACRQERHM IMHKRTHTGE KPYACSHCDK TFRQKQLLDM HFKRYHDPNF
560 570 580 590 600
VPAAFVCSKC GKTFTRRNTM ARHADNCAGP DGVEGENGGE TKKSKRGRKR
610 620 630 640 650
KMRSKKEDSS DSENAEPDLD DNEDEEEPAV EIEPEPEPQP VTPAPPPAKK
660 670 680 690 700
RRGRPPGRTN QPKQNQPTAI IQVEDQNTGA IENIIVEVKK EPDAEPAEGE
710 720
EEEAQPAATD APNGDLTPEM ILSMMDR
Length:727
Mass (Da):82,785
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2110538B65DC5706
GO
Isoform 2 (identifier: P49711-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-328: Missing.

Note: No experimental confirmation available.
Show »
Length:399
Mass (Da):45,998
Checksum:iFEB74DFBADCF586A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YFL0A0A2R8YFL0_HUMAN
Transcriptional repressor CTCF
CTCF
725Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y595A0A2R8Y595_HUMAN
Transcriptional repressor CTCF
CTCF
638Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6Z6A0A2R8Y6Z6_HUMAN
Transcriptional repressor CTCF
CTCF
135Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6C1A0A2R8Y6C1_HUMAN
Transcriptional repressor CTCF
CTCF
163Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAD93030 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07937419 – 727Missing Found in an endometrial carcinoma sample; unknown pathological significance. 1 PublicationAdd BLAST709
Natural variantiVAR_079375278R → C Found in an endometrial carcinoma sample; no effect on its nuclear localization; loss of its ability to inhibit cell proliferation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1266478000Ensembl.1
Natural variantiVAR_013141339R → W in a Wilms' tumor. 1 PublicationCorresponds to variant dbSNP:rs1243010179Ensembl.1
Natural variantiVAR_079376342R → H Found in an endometrial carcinoma sample; no effect on its nuclear localization; loss of its ability to inhibit cell proliferation; unknown pathological significance. 1 Publication1
Natural variantiVAR_013142344K → E in a breast tumor. 1 PublicationCorresponds to variant dbSNP:rs1215280530Ensembl.1
Natural variantiVAR_013143345H → R in a prostate tumor. 1 Publication1
Natural variantiVAR_079377365K → T Found in an endometrial carcinoma sample; no effect on its nuclear localization; no loss of its ability to inhibit cell proliferation; unknown pathological significance. 1 Publication1
Natural variantiVAR_013144448R → Q in a Wilms' tumor. 1 Publication1
Natural variantiVAR_070776567R → W in MRD21. 1 PublicationCorresponds to variant dbSNP:rs879255516EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0453501 – 328Missing in isoform 2. 1 PublicationAdd BLAST328

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U25435 mRNA Translation: AAB07788.1
AF145477
, AF145468, AF145469, AF145470, AF145471, AF145472, AF145473, AF145474, AF145475, AF145476 Genomic DNA Translation: AAF31318.1
BT009915 mRNA Translation: AAP88917.1
AB209793 mRNA Translation: BAD93030.1 Different initiation.
AC009095 Genomic DNA No translation available.
AC027682 Genomic DNA No translation available.
CH471092 Genomic DNA Translation: EAW83142.1
BC014267 mRNA Translation: AAH14267.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10841.1 [P49711-1]
CCDS54029.1 [P49711-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
G01792

NCBI Reference Sequences

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RefSeqi
NP_001177951.1, NM_001191022.1 [P49711-2]
NP_006556.1, NM_006565.3 [P49711-1]
XP_016878357.1, XM_017022868.1 [P49711-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.368367

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264010; ENSP00000264010; ENSG00000102974 [P49711-1]
ENST00000401394; ENSP00000384707; ENSG00000102974 [P49711-2]
ENST00000642819; ENSP00000494408; ENSG00000102974 [P49711-1]
ENST00000644753; ENSP00000493495; ENSG00000102974 [P49711-1]
ENST00000645699; ENSP00000495348; ENSG00000102974 [P49711-1]
ENST00000646076; ENSP00000494538; ENSG00000102974 [P49711-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10664

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10664

UCSC genome browser

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UCSCi
uc002etl.4 human [P49711-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U25435 mRNA Translation: AAB07788.1
AF145477
, AF145468, AF145469, AF145470, AF145471, AF145472, AF145473, AF145474, AF145475, AF145476 Genomic DNA Translation: AAF31318.1
BT009915 mRNA Translation: AAP88917.1
AB209793 mRNA Translation: BAD93030.1 Different initiation.
AC009095 Genomic DNA No translation available.
AC027682 Genomic DNA No translation available.
CH471092 Genomic DNA Translation: EAW83142.1
BC014267 mRNA Translation: AAH14267.1
CCDSiCCDS10841.1 [P49711-1]
CCDS54029.1 [P49711-2]
PIRiG01792
RefSeqiNP_001177951.1, NM_001191022.1 [P49711-2]
NP_006556.1, NM_006565.3 [P49711-1]
XP_016878357.1, XM_017022868.1 [P49711-1]
UniGeneiHs.368367

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X6HNMR-A515-587[»]
2CT1NMR-A399-462[»]
5K5HX-ray3.11A348-464[»]
5K5IX-ray2.19A378-489[»]
5K5JX-ray2.29A378-489[»]
5K5LX-ray3.12E/F/G405-492[»]
5KKQX-ray1.74A/D321-465[»]
5T00X-ray2.19A/D321-465[»]
5T0UX-ray3.20A/D294-465[»]
5UNDX-ray2.55A/B348-547[»]
5YEFX-ray2.81A/B/G/J292-490[»]
5YEGX-ray2.00A349-490[»]
B349-489[»]
5YEHX-ray2.33A/B349-490[»]
5YELX-ray2.96A/B405-580[»]
ProteinModelPortaliP49711
SMRiP49711
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115906, 62 interactors
CORUMiP49711
DIPiDIP-35252N
IntActiP49711, 35 interactors
MINTiP49711
STRINGi9606.ENSP00000264010

PTM databases

iPTMnetiP49711
PhosphoSitePlusiP49711

Polymorphism and mutation databases

BioMutaiCTCF
DMDMi1706179

Proteomic databases

EPDiP49711
jPOSTiP49711
MaxQBiP49711
PaxDbiP49711
PeptideAtlasiP49711
PRIDEiP49711
ProteomicsDBi56053

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10664
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264010; ENSP00000264010; ENSG00000102974 [P49711-1]
ENST00000401394; ENSP00000384707; ENSG00000102974 [P49711-2]
ENST00000642819; ENSP00000494408; ENSG00000102974 [P49711-1]
ENST00000644753; ENSP00000493495; ENSG00000102974 [P49711-1]
ENST00000645699; ENSP00000495348; ENSG00000102974 [P49711-1]
ENST00000646076; ENSP00000494538; ENSG00000102974 [P49711-1]
GeneIDi10664
KEGGihsa:10664
UCSCiuc002etl.4 human [P49711-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10664
DisGeNETi10664
EuPathDBiHostDB:ENSG00000102974.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CTCF
HGNCiHGNC:13723 CTCF
HPAiCAB062550
CAB068181
CAB068182
HPA004122
MalaCardsiCTCF
MIMi604167 gene
615502 phenotype
neXtProtiNX_P49711
OpenTargetsiENSG00000102974
Orphaneti363611 Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
PharmGKBiPA26998

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000156672
HOGENOMiHOG000276534
HOVERGENiHBG000350
InParanoidiP49711
OMAiEGEPMIC
OrthoDBi1318335at2759
PhylomeDBiP49711
TreeFamiTF106430

Enzyme and pathway databases

ReactomeiR-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
SignaLinkiP49711
SIGNORiP49711

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CTCF human
EvolutionaryTraceiP49711

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CTCF

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
10664

Protein Ontology

More...
PROi
PR:P49711

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000102974 Expressed in 245 organ(s), highest expression level in amniotic fluid
ExpressionAtlasiP49711 baseline and differential
GenevisibleiP49711 HS

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 6 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 11 hits
SUPFAMiSSF57667 SSF57667, 7 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 8 hits
PS50157 ZINC_FINGER_C2H2_2, 11 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCTCF_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P49711
Secondary accession number(s): B5MC38, Q53XI7, Q59EL8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: February 13, 2019
This is version 192 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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