UniProtKB - Q8NI51 (CTCFL_HUMAN)
Transcriptional repressor CTCFL
CTCFL
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 257 – 279 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 285 – 307 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 313 – 336 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 342 – 364 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 370 – 392 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 398 – 421 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 428 – 451 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 458 – 480 | C2H2-type 8PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 486 – 508 | C2H2-type 9PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 514 – 537 | C2H2-type 10PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 546 – 568 | C2H2-type 11; atypicalPROSITE-ProRule annotationAdd BLAST | 23 |
GO - Molecular functioni
- chromatin insulator sequence binding Source: GO_Central
- DNA binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: GO_Central
- histone binding Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SB
- sequence-specific DNA binding Source: UniProtKB
- transcription regulatory region sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- cell cycle Source: UniProtKB-KW
- DNA methylation involved in gamete generation Source: UniProtKB
- histone methylation Source: UniProtKB
- positive regulation of gene expression Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: NTNU_SB
- regulation of gene expression by genetic imprinting Source: UniProtKB
- regulation of histone H3-K4 methylation Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Activator, Chromatin regulator, DNA-binding, Repressor |
Biological process | Cell cycle, Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q8NI51 |
SignaLinki | Q8NI51 |
SIGNORi | Q8NI51 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcriptional repressor CTCFLAlternative name(s): Brother of the regulator of imprinted sites CCCTC-binding factor CTCF paralog CTCF-like protein Cancer/testis antigen 27 Short name: CT27 Zinc finger protein CTCF-T |
Gene namesi | Name:CTCFL Synonyms:BORIS |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000124092.12 |
HGNCi | HGNC:16234, CTCFL |
MIMi | 607022, gene |
neXtProti | NX_Q8NI51 |
Subcellular locationi
Cytosol
- cytosol Source: HPA
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- chromosome Source: GO_Central
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 140690 |
OpenTargetsi | ENSG00000124092 |
PharmGKBi | PA26999 |
Miscellaneous databases
Pharosi | Q8NI51, Tbio |
Polymorphism and mutation databases
BioMutai | CTCFL |
DMDMi | 313104098 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000047226 | 1 – 663 | Transcriptional repressor CTCFLAdd BLAST | 663 |
Proteomic databases
jPOSTi | Q8NI51 |
MassIVEi | Q8NI51 |
MaxQBi | Q8NI51 |
PaxDbi | Q8NI51 |
PeptideAtlasi | Q8NI51 |
PRIDEi | Q8NI51 |
ProteomicsDBi | 1764 1765 1766 1767 1768 1769 1770 18412 73832 [Q8NI51-1] |
PTM databases
iPTMneti | Q8NI51 |
PhosphoSitePlusi | Q8NI51 |
Expressioni
Tissue specificityi
Developmental stagei
Gene expression databases
Bgeei | ENSG00000124092, Expressed in secondary oocyte and 49 other tissues |
ExpressionAtlasi | Q8NI51, baseline and differential |
Genevisiblei | Q8NI51, HS |
Organism-specific databases
HPAi | ENSG00000124092, Tissue enriched (testis) |
Interactioni
Subunit structurei
Interacts with histones, PRMT7 and SETD1A.
Interacts (via N-terminus) with BAG6/BAT3.
1 PublicationGO - Molecular functioni
- histone binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 126653, 12 interactors |
IntActi | Q8NI51, 15 interactors |
STRINGi | 9606.ENSP00000415579 |
Miscellaneous databases
RNActi | Q8NI51, protein |
Family & Domainsi
Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 257 – 279 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 285 – 307 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 313 – 336 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 342 – 364 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 370 – 392 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 398 – 421 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 428 – 451 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 458 – 480 | C2H2-type 8PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 486 – 508 | C2H2-type 9PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 514 – 537 | C2H2-type 10PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 546 – 568 | C2H2-type 11; atypicalPROSITE-ProRule annotationAdd BLAST | 23 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000161524 |
HOGENOMi | CLU_643978_0_0_1 |
InParanoidi | Q8NI51 |
OMAi | MEEAVKC |
OrthoDBi | 1318335at2759 |
PhylomeDBi | Q8NI51 |
TreeFami | TF106430 |
Family and domain databases
InterProi | View protein in InterPro IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF00096, zf-C2H2, 3 hits |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 11 hits |
SUPFAMi | SSF57667, SSF57667, 7 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 7 hits PS50157, ZINC_FINGER_C2H2_2, 11 hits |
s (11+)i Sequence
Sequence statusi: Complete.
This entry describes 11 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 11 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE
60 70 80 90 100
RTSGAFQDSV LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL
110 120 130 140 150
SIQQQEGVQV VVQQPGPGLL WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV
160 170 180 190 200
LQFHALEENV MVASEDSKLA VSLAETTGLI KLEEEQEKNQ LLAERTKEQL
210 220 230 240 250
FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK AKSTKNQRKT
260 270 280 290 300
KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL
310 320 330 340 350
RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA
360 370 380 390 400
SVEASKLKRH VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGEKPYEC
410 420 430 440 450
HICHTRFTQS GTMKIHILQK HGENVPKYQC PHCATIIARK SDLRVHMRNL
460 470 480 490 500
HAYSAAELKC RYCSAVFHER YALIQHQKTH KNEKRFKCKH CSYACKQERH
510 520 530 540 550
MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN AHFRKYHDAN FIPTVYKCSK
560 570 580 590 600
CGKGFSRWIN LHRHSEKCGS GEAKSAASGK GRRTRKRKQT ILKEATKGQK
610 620 630 640 650
EAAKGWKEAA NGDEAAAEEA STTKGEQFPG EMFPVACRET TARVKEEVDE
660
GVTCEMLLNT MDK
The sequence of this isoform differs from the canonical sequence as follows:
1-205: Missing.
614-663: EAAAEEASTT...CEMLLNTMDK → GVISAHRNLC...EMGFYHVSHS
The sequence of this isoform differs from the canonical sequence as follows:
1-262: Missing.
559-663: INLHRHSEKC...CEMLLNTMDK → VLY
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketV9GY73 | V9GY73_HUMAN | Transcriptional repressor CTCFL | CTCFL | 627 | Annotation score: | ||
V9GYX4 | V9GYX4_HUMAN | Transcriptional repressor CTCFL | CTCFL | 404 | Annotation score: | ||
F5H2V8 | F5H2V8_HUMAN | Transcriptional repressor CTCFL | CTCFL | 451 | Annotation score: | ||
V9GZ46 | V9GZ46_HUMAN | Transcriptional repressor CTCFL | CTCFL | 426 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 613 | Missing in AAL61541 (PubMed:17048991).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023213 | 50 | E → Q. Corresponds to variant dbSNP:rs6070128Ensembl. | 1 | |
Natural variantiVAR_023214 | 177 | T → A4 PublicationsCorresponds to variant dbSNP:rs6025606Ensembl. | 1 | |
Natural variantiVAR_057374 | 448 | R → H. Corresponds to variant dbSNP:rs6092491Ensembl. | 1 | |
Natural variantiVAR_032766 | 525 | Q → E. Corresponds to variant dbSNP:rs6070122Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045155 | 1 – 262 | Missing in isoform 6 and isoform 11. 1 PublicationAdd BLAST | 262 | |
Alternative sequenceiVSP_045156 | 1 – 205 | Missing in isoform 5 and isoform 10. 1 PublicationAdd BLAST | 205 | |
Alternative sequenceiVSP_045157 | 354 – 497 | Missing in isoform 4. 1 PublicationAdd BLAST | 144 | |
Alternative sequenceiVSP_047725 | 394 – 427 | GEKPY…ENVPK → EATSKRSLQEIPRCKFHPDC LQMLQVWQRLFPLD in isoform 9. 1 PublicationAdd BLAST | 34 | |
Alternative sequenceiVSP_047058 | 395 – 444 | Missing in isoform 8. 1 PublicationAdd BLAST | 50 | |
Alternative sequenceiVSP_047726 | 428 – 663 | Missing in isoform 9. 1 PublicationAdd BLAST | 236 | |
Alternative sequenceiVSP_054899 | 559 – 663 | INLHR…NTMDK → VLY in isoform 11. 1 PublicationAdd BLAST | 105 | |
Alternative sequenceiVSP_045158 | 560 – 663 | NLHRH…NTMDK → TSKWSGLKPQTFIT in isoform 2. 1 PublicationAdd BLAST | 104 | |
Alternative sequenceiVSP_045159 | 560 – 663 | NLHRH…NTMDK → LWVGNSEVAELGGPGSGPLL RLQSGCPPGLHHPKAGLGPE DPLPGQLRHTTAGTGLSSLL QGPLCRAA in isoform 4 and isoform 5. 1 PublicationAdd BLAST | 104 | |
Alternative sequenceiVSP_045160 | 614 – 663 | EAAAE…NTMDK → GVISAHRNLCLLGSSDSHAS VSGAGITDARHHAWLIVLLF LVEMGFYHVSHS in isoform 3, isoform 6 and isoform 10. 1 PublicationAdd BLAST | 50 | |
Alternative sequenceiVSP_047059 | 663 | K → NSAGCTGRMMLVSAWLLGRP QETYNQGRRRRGSRRVTW in isoform 7. 1 Publication | 1 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
SMRi | Q8NI51 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126653, 12 interactors |
IntActi | Q8NI51, 15 interactors |
STRINGi | 9606.ENSP00000415579 |
PTM databases
iPTMneti | Q8NI51 |
PhosphoSitePlusi | Q8NI51 |
Polymorphism and mutation databases
BioMutai | CTCFL |
DMDMi | 313104098 |
Proteomic databases
jPOSTi | Q8NI51 |
MassIVEi | Q8NI51 |
MaxQBi | Q8NI51 |
PaxDbi | Q8NI51 |
PeptideAtlasi | Q8NI51 |
PRIDEi | Q8NI51 |
ProteomicsDBi | 1764 1765 1766 1767 1768 1769 1770 18412 73832 [Q8NI51-1] |
Protocols and materials databases
Antibodypediai | 744, 244 antibodies |
Genome annotation databases
Organism-specific databases
CTDi | 140690 |
DisGeNETi | 140690 |
EuPathDBi | HostDB:ENSG00000124092.12 |
GeneCardsi | CTCFL |
HGNCi | HGNC:16234, CTCFL |
HPAi | ENSG00000124092, Tissue enriched (testis) |
MIMi | 607022, gene |
neXtProti | NX_Q8NI51 |
OpenTargetsi | ENSG00000124092 |
PharmGKBi | PA26999 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000161524 |
HOGENOMi | CLU_643978_0_0_1 |
InParanoidi | Q8NI51 |
OMAi | MEEAVKC |
OrthoDBi | 1318335at2759 |
PhylomeDBi | Q8NI51 |
TreeFami | TF106430 |
Enzyme and pathway databases
PathwayCommonsi | Q8NI51 |
SignaLinki | Q8NI51 |
SIGNORi | Q8NI51 |
Miscellaneous databases
BioGRID-ORCSi | 140690, 4 hits in 864 CRISPR screens |
ChiTaRSi | CTCFL, human |
GeneWikii | CTCFL |
GenomeRNAii | 140690 |
Pharosi | Q8NI51, Tbio |
PROi | PR:Q8NI51 |
RNActi | Q8NI51, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000124092, Expressed in secondary oocyte and 49 other tissues |
ExpressionAtlasi | Q8NI51, baseline and differential |
Genevisiblei | Q8NI51, HS |
Family and domain databases
InterProi | View protein in InterPro IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF00096, zf-C2H2, 3 hits |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 11 hits |
SUPFAMi | SSF57667, SSF57667, 7 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 7 hits PS50157, ZINC_FINGER_C2H2_2, 11 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CTCFL_HUMAN | |
Accessioni | Q8NI51Primary (citable) accession number: Q8NI51 Secondary accession number(s): A0S6W1 Q9NQJ3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 23, 2003 |
Last sequence update: | November 30, 2010 | |
Last modified: | December 2, 2020 | |
This is version 170 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations