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Q8NI51

- CTCFL_HUMAN

UniProt

Q8NI51 - CTCFL_HUMAN

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Protein

Transcriptional repressor CTCFL

Gene

CTCFL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.By similarity3 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri257 – 27923C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri285 – 30723C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri313 – 33624C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri342 – 36423C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri370 – 39223C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri398 – 42124C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri428 – 45124C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri458 – 48023C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri486 – 50823C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri514 – 53724C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri546 – 56823C2H2-type 11; atypicalPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. histone binding Source: UniProtKB
  3. metal ion binding Source: UniProtKB-KW
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  5. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB
  6. sequence-specific DNA binding Source: UniProtKB
  7. transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

  1. cell cycle Source: UniProtKB-KW
  2. DNA methylation involved in gamete generation Source: UniProtKB
  3. histone methylation Source: UniProtKB
  4. positive regulation of gene expression Source: UniProtKB
  5. positive regulation of transcription, DNA-templated Source: UniProtKB
  6. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  7. regulation of gene expression by genetic imprinting Source: UniProtKB
  8. regulation of histone H3-K4 methylation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Activator, Chromatin regulator, Repressor

Keywords - Biological processi

Cell cycle, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Transcriptional repressor CTCFL
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:16234. CTCFL.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26999.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 663663Transcriptional repressor CTCFLPRO_0000047226Add
BLAST

Proteomic databases

MaxQBiQ8NI51.
PaxDbiQ8NI51.
PRIDEiQ8NI51.

PTM databases

PhosphoSiteiQ8NI51.

Expressioni

Tissue specificityi

Testis specific. Specifically expressed in primary spermatocytes.

Developmental stagei

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).

Gene expression databases

BgeeiQ8NI51.
CleanExiHS_CTCFL.
ExpressionAtlasiQ8NI51. baseline and differential.
GenevestigatoriQ8NI51.

Organism-specific databases

HPAiHPA001472.

Interactioni

Subunit structurei

Interacts with histones, PRMT7 and SETD1A. Interacts (via N-terminus) with BAG6/BAT3.1 Publication

Protein-protein interaction databases

BioGridi126653. 7 interactions.
IntActiQ8NI51. 15 interactions.
STRINGi9606.ENSP00000243914.

Structurei

3D structure databases

ProteinModelPortaliQ8NI51.
SMRiQ8NI51. Positions 231-564.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CTCF zinc-finger protein family.Curated
Contains 11 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri257 – 27923C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri285 – 30723C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri313 – 33624C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri342 – 36423C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri370 – 39223C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri398 – 42124C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri428 – 45124C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri458 – 48023C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri486 – 50823C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri514 – 53724C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri546 – 56823C2H2-type 11; atypicalPROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
GeneTreeiENSGT00530000063079.
HOGENOMiHOG000276534.
InParanoidiQ8NI51.
OMAiCIVENTS.
OrthoDBiEOG71K632.
PhylomeDBiQ8NI51.
TreeFamiTF106430.

Family and domain databases

Gene3Di3.30.160.60. 10 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 2 hits.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 11 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 7 hits.
PS50157. ZINC_FINGER_C2H2_2. 11 hits.
[Graphical view]

Sequences (11)i

Sequence statusi: Complete.

This entry describes 11 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8NI51-1) [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
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
Length:663
Mass (Da):75,747
Last modified:November 30, 2010 - v2
Checksum:i9351E1A85173D085
GO
Isoform 2 (identifier: Q8NI51-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     560-663: NLHRHSEKCG...CEMLLNTMDK → TSKWSGLKPQTFIT

Show »
Length:573
Mass (Da):66,029
Checksum:i79DFEA839B95D94B
GO
Isoform 3 (identifier: Q8NI51-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     614-663: EAAAEEASTT...CEMLLNTMDK → GVISAHRNLC...EMGFYHVSHS

Show »
Length:665
Mass (Da):75,836
Checksum:i322DE1AF4BD6328E
GO
Isoform 4 (identifier: Q8NI51-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     354-497: Missing.
     560-663: NLHRHSEKCG...CEMLLNTMDK → LWVGNSEVAE...LLQGPLCRAA

Show »
Length:483
Mass (Da):54,194
Checksum:iAA920F461EC5A901
GO
Isoform 5 (identifier: Q8NI51-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-205: Missing.
     560-663: NLHRHSEKCG...CEMLLNTMDK → LWVGNSEVAE...LLQGPLCRAA

Show »
Length:422
Mass (Da):48,088
Checksum:i363AC9455A24D686
GO
Isoform 6 (identifier: Q8NI51-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-262: Missing.
     614-663: EAAAEEASTT...CEMLLNTMDK → GVISAHRNLC...EMGFYHVSHS

Show »
Length:403
Mass (Da):46,538
Checksum:i141E4AFDF4B5BC2E
GO
Isoform 7 (identifier: Q8NI51-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     663-663: K → NSAGCTGRMMLVSAWLLGRPQETYNQGRRRRGSRRVTW

Show »
Length:700
Mass (Da):80,010
Checksum:iC5ECEB4A1EFA816F
GO
Isoform 8 (identifier: Q8NI51-8) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     395-444: Missing.

Show »
Length:613
Mass (Da):69,916
Checksum:i4192478A258CB6A1
GO
Isoform 9 (identifier: Q8NI51-9) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     394-427: GEKPYECHICHTRFTQSGTMKIHILQKHGENVPK → EATSKRSLQEIPRCKFHPDCLQMLQVWQRLFPLD
     428-663: Missing.

Show »
Length:427
Mass (Da):48,929
Checksum:iAF3D08C4C3250FAA
GO
Isoform 10 (identifier: Q8NI51-10) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-205: Missing.
     614-663: EAAAEEASTT...CEMLLNTMDK → GVISAHRNLC...EMGFYHVSHS

Show »
Length:460
Mass (Da):52,690
Checksum:i55F8D2CC9872A225
GO
Isoform 11 (identifier: Q8NI51-11) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-262: Missing.
     559-663: INLHRHSEKC...CEMLLNTMDK → VLY

Show »
Length:299
Mass (Da):35,417
Checksum:i15FF2AEC96221604
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti613 – 6131Missing in AAL61541. (PubMed:17048991)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti50 – 501E → Q.
Corresponds to variant rs6070128 [ dbSNP | Ensembl ].
VAR_023213
Natural varianti177 – 1771T → A.4 Publications
Corresponds to variant rs6025606 [ dbSNP | Ensembl ].
VAR_023214
Natural varianti448 – 4481R → H.
Corresponds to variant rs6092491 [ dbSNP | Ensembl ].
VAR_057374
Natural varianti525 – 5251Q → E.
Corresponds to variant rs6070122 [ dbSNP | Ensembl ].
VAR_032766

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 262262Missing in isoform 6 and isoform 11. 1 PublicationVSP_045155Add
BLAST
Alternative sequencei1 – 205205Missing in isoform 5 and isoform 10. 1 PublicationVSP_045156Add
BLAST
Alternative sequencei354 – 497144Missing in isoform 4. 1 PublicationVSP_045157Add
BLAST
Alternative sequencei394 – 42734GEKPY…ENVPK → EATSKRSLQEIPRCKFHPDC LQMLQVWQRLFPLD in isoform 9. 1 PublicationVSP_047725Add
BLAST
Alternative sequencei395 – 44450Missing in isoform 8. 1 PublicationVSP_047058Add
BLAST
Alternative sequencei428 – 663236Missing in isoform 9. 1 PublicationVSP_047726Add
BLAST
Alternative sequencei559 – 663105INLHR…NTMDK → VLY in isoform 11. 1 PublicationVSP_054899Add
BLAST
Alternative sequencei560 – 663104NLHRH…NTMDK → TSKWSGLKPQTFIT in isoform 2. 1 PublicationVSP_045158Add
BLAST
Alternative sequencei560 – 663104NLHRH…NTMDK → LWVGNSEVAELGGPGSGPLL RLQSGCPPGLHHPKAGLGPE DPLPGQLRHTTAGTGLSSLL QGPLCRAA in isoform 4 and isoform 5. 1 PublicationVSP_045159Add
BLAST
Alternative sequencei614 – 66350EAAAE…NTMDK → GVISAHRNLCLLGSSDSHAS VSGAGITDARHHAWLIVLLF LVEMGFYHVSHS in isoform 3, isoform 6 and isoform 10. 1 PublicationVSP_045160Add
BLAST
Alternative sequencei663 – 6631K → NSAGCTGRMMLVSAWLLGRP QETYNQGRRRRGSRRVTW in isoform 7. 1 PublicationVSP_047059

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF336042 mRNA. Translation: AAM28645.1.
AY071919 mRNA. Translation: AAL61541.1.
DQ294738 mRNA. Translation: ABB92839.1.
DQ778124 mRNA. Translation: ABH10106.1.
DQ778108 mRNA. Translation: ABH10090.1.
DQ778109 mRNA. Translation: ABH10091.1.
DQ778110 mRNA. Translation: ABH10092.1.
DQ778111 mRNA. Translation: ABH10093.1.
DQ778112 mRNA. Translation: ABH10094.1.
DQ778115 mRNA. Translation: ABH10097.1.
DQ778116 mRNA. Translation: ABH10098.1.
DQ778121 mRNA. Translation: ABH10103.2.
DQ778123 mRNA. Translation: ABH10105.1.
DQ778125 mRNA. Translation: ABH10107.2.
DQ778126 mRNA. Translation: ABH10108.1.
DQ778127 mRNA. Translation: ABH10109.1.
AK128070 mRNA. Translation: BAG54626.1.
AL035541 Genomic DNA. No translation available.
AL160176 Genomic DNA. Translation: CAI42956.1.
CH471077 Genomic DNA. Translation: EAW75518.1.
BC130486 mRNA. Translation: AAI30487.1.
CCDSiCCDS13459.1. [Q8NI51-1]
CCDS58776.1. [Q8NI51-6]
CCDS58777.1. [Q8NI51-5]
CCDS58778.1. [Q8NI51-4]
CCDS58779.1. [Q8NI51-8]
CCDS58780.1. [Q8NI51-7]
CCDS58781.1. [Q8NI51-3]
CCDS58782.1. [Q8NI51-2]
CCDS68161.1. [Q8NI51-11]
CCDS68162.1. [Q8NI51-10]
RefSeqiNP_001255969.1. NM_001269040.1. [Q8NI51-1]
NP_001255970.1. NM_001269041.1. [Q8NI51-1]
NP_001255971.1. NM_001269042.1.
NP_001255972.1. NM_001269043.1. [Q8NI51-7]
NP_001255973.1. NM_001269044.1. [Q8NI51-3]
NP_001255974.1. NM_001269045.1.
NP_001255975.1. NM_001269046.1. [Q8NI51-8]
NP_001255976.1. NM_001269047.1. [Q8NI51-2]
NP_001255977.1. NM_001269048.1. [Q8NI51-4]
NP_001255978.1. NM_001269049.1. [Q8NI51-10]
NP_001255979.1. NM_001269050.1. [Q8NI51-5]
NP_001255980.1. NM_001269051.1.
NP_001255981.1. NM_001269052.1.
NP_001255983.1. NM_001269054.1. [Q8NI51-6]
NP_001255984.1. NM_001269055.1. [Q8NI51-11]
NP_542185.2. NM_080618.3. [Q8NI51-1]
UniGeneiHs.131543.

Genome annotation databases

EnsembliENST00000243914; ENSP00000243914; ENSG00000124092. [Q8NI51-1]
ENST00000371196; ENSP00000360239; ENSG00000124092. [Q8NI51-1]
ENST00000422109; ENSP00000413713; ENSG00000124092. [Q8NI51-9]
ENST00000422869; ENSP00000399061; ENSG00000124092. [Q8NI51-2]
ENST00000423479; ENSP00000415579; ENSG00000124092. [Q8NI51-7]
ENST00000429804; ENSP00000415329; ENSG00000124092. [Q8NI51-8]
ENST00000432255; ENSP00000409344; ENSG00000124092. [Q8NI51-4]
ENST00000433949; ENSP00000392034; ENSG00000124092. [Q8NI51-10]
ENST00000502686; ENSP00000437999; ENSG00000124092. [Q8NI51-6]
ENST00000539382; ENSP00000439998; ENSG00000124092. [Q8NI51-5]
ENST00000608263; ENSP00000476783; ENSG00000124092. [Q8NI51-1]
ENST00000608440; ENSP00000477488; ENSG00000124092. [Q8NI51-3]
ENST00000608903; ENSP00000476718; ENSG00000124092. [Q8NI51-11]
ENST00000609232; ENSP00000476398; ENSG00000124092. [Q8NI51-1]
GeneIDi140690.
KEGGihsa:140690.
UCSCiuc010gix.1. human. [Q8NI51-1]
uc010gje.3. human.
uc010gjg.4. human.
uc010gjh.2. human.
uc010gji.2. human.
uc031ruj.1. human.

Polymorphism databases

DMDMi313104098.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF336042 mRNA. Translation: AAM28645.1 .
AY071919 mRNA. Translation: AAL61541.1 .
DQ294738 mRNA. Translation: ABB92839.1 .
DQ778124 mRNA. Translation: ABH10106.1 .
DQ778108 mRNA. Translation: ABH10090.1 .
DQ778109 mRNA. Translation: ABH10091.1 .
DQ778110 mRNA. Translation: ABH10092.1 .
DQ778111 mRNA. Translation: ABH10093.1 .
DQ778112 mRNA. Translation: ABH10094.1 .
DQ778115 mRNA. Translation: ABH10097.1 .
DQ778116 mRNA. Translation: ABH10098.1 .
DQ778121 mRNA. Translation: ABH10103.2 .
DQ778123 mRNA. Translation: ABH10105.1 .
DQ778125 mRNA. Translation: ABH10107.2 .
DQ778126 mRNA. Translation: ABH10108.1 .
DQ778127 mRNA. Translation: ABH10109.1 .
AK128070 mRNA. Translation: BAG54626.1 .
AL035541 Genomic DNA. No translation available.
AL160176 Genomic DNA. Translation: CAI42956.1 .
CH471077 Genomic DNA. Translation: EAW75518.1 .
BC130486 mRNA. Translation: AAI30487.1 .
CCDSi CCDS13459.1. [Q8NI51-1 ]
CCDS58776.1. [Q8NI51-6 ]
CCDS58777.1. [Q8NI51-5 ]
CCDS58778.1. [Q8NI51-4 ]
CCDS58779.1. [Q8NI51-8 ]
CCDS58780.1. [Q8NI51-7 ]
CCDS58781.1. [Q8NI51-3 ]
CCDS58782.1. [Q8NI51-2 ]
CCDS68161.1. [Q8NI51-11 ]
CCDS68162.1. [Q8NI51-10 ]
RefSeqi NP_001255969.1. NM_001269040.1. [Q8NI51-1 ]
NP_001255970.1. NM_001269041.1. [Q8NI51-1 ]
NP_001255971.1. NM_001269042.1.
NP_001255972.1. NM_001269043.1. [Q8NI51-7 ]
NP_001255973.1. NM_001269044.1. [Q8NI51-3 ]
NP_001255974.1. NM_001269045.1.
NP_001255975.1. NM_001269046.1. [Q8NI51-8 ]
NP_001255976.1. NM_001269047.1. [Q8NI51-2 ]
NP_001255977.1. NM_001269048.1. [Q8NI51-4 ]
NP_001255978.1. NM_001269049.1. [Q8NI51-10 ]
NP_001255979.1. NM_001269050.1. [Q8NI51-5 ]
NP_001255980.1. NM_001269051.1.
NP_001255981.1. NM_001269052.1.
NP_001255983.1. NM_001269054.1. [Q8NI51-6 ]
NP_001255984.1. NM_001269055.1. [Q8NI51-11 ]
NP_542185.2. NM_080618.3. [Q8NI51-1 ]
UniGenei Hs.131543.

3D structure databases

ProteinModelPortali Q8NI51.
SMRi Q8NI51. Positions 231-564.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126653. 7 interactions.
IntActi Q8NI51. 15 interactions.
STRINGi 9606.ENSP00000243914.

PTM databases

PhosphoSitei Q8NI51.

Polymorphism databases

DMDMi 313104098.

Proteomic databases

MaxQBi Q8NI51.
PaxDbi Q8NI51.
PRIDEi Q8NI51.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000243914 ; ENSP00000243914 ; ENSG00000124092 . [Q8NI51-1 ]
ENST00000371196 ; ENSP00000360239 ; ENSG00000124092 . [Q8NI51-1 ]
ENST00000422109 ; ENSP00000413713 ; ENSG00000124092 . [Q8NI51-9 ]
ENST00000422869 ; ENSP00000399061 ; ENSG00000124092 . [Q8NI51-2 ]
ENST00000423479 ; ENSP00000415579 ; ENSG00000124092 . [Q8NI51-7 ]
ENST00000429804 ; ENSP00000415329 ; ENSG00000124092 . [Q8NI51-8 ]
ENST00000432255 ; ENSP00000409344 ; ENSG00000124092 . [Q8NI51-4 ]
ENST00000433949 ; ENSP00000392034 ; ENSG00000124092 . [Q8NI51-10 ]
ENST00000502686 ; ENSP00000437999 ; ENSG00000124092 . [Q8NI51-6 ]
ENST00000539382 ; ENSP00000439998 ; ENSG00000124092 . [Q8NI51-5 ]
ENST00000608263 ; ENSP00000476783 ; ENSG00000124092 . [Q8NI51-1 ]
ENST00000608440 ; ENSP00000477488 ; ENSG00000124092 . [Q8NI51-3 ]
ENST00000608903 ; ENSP00000476718 ; ENSG00000124092 . [Q8NI51-11 ]
ENST00000609232 ; ENSP00000476398 ; ENSG00000124092 . [Q8NI51-1 ]
GeneIDi 140690.
KEGGi hsa:140690.
UCSCi uc010gix.1. human. [Q8NI51-1 ]
uc010gje.3. human.
uc010gjg.4. human.
uc010gjh.2. human.
uc010gji.2. human.
uc031ruj.1. human.

Organism-specific databases

CTDi 140690.
GeneCardsi GC20M056064.
HGNCi HGNC:16234. CTCFL.
HPAi HPA001472.
MIMi 607022. gene.
neXtProti NX_Q8NI51.
PharmGKBi PA26999.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
GeneTreei ENSGT00530000063079.
HOGENOMi HOG000276534.
InParanoidi Q8NI51.
OMAi CIVENTS.
OrthoDBi EOG71K632.
PhylomeDBi Q8NI51.
TreeFami TF106430.

Miscellaneous databases

GeneWikii CTCFL.
GenomeRNAii 140690.
NextBioi 35462878.
PROi Q8NI51.
SOURCEi Search...

Gene expression databases

Bgeei Q8NI51.
CleanExi HS_CTCFL.
ExpressionAtlasi Q8NI51. baseline and differential.
Genevestigatori Q8NI51.

Family and domain databases

Gene3Di 3.30.160.60. 10 hits.
InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
Pfami PF00096. zf-C2H2. 2 hits.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 11 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 7 hits.
PS50157. ZINC_FINGER_C2H2_2. 11 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "BORIS, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with CTCF, the insulator protein involved in reading imprinting marks in the soma."
    Loukinov D.I., Pugacheva E., Vatolin S., Pack S.D., Moon H., Chernukhin I., Mannan P., Larsson E., Kanduri C., Vostrov A.A., Cui H., Niemitz E.L., Rasko J.E.J., Docquier F.M., Kistler M., Breen J.J., Zhuang Z., Quitschke W.W.
    , Renkawitz R., Klenova E.M., Feinberg A.P., Ohlsson R., Morse H.C. III, Lobanenkov V.V.
    Proc. Natl. Acad. Sci. U.S.A. 99:6806-6811(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8; 9; 10 AND 11), FUNCTION, VARIANT ALA-177.
    Tissue: Testis.
  2. "The testis-specific factor CTCFL cooperates with the protein methyltransferase PRMT7 in H19 imprinting control region methylation."
    Jelinic P., Stehle J.-C., Shaw P.
    PLoS Biol. 4:E355-E355(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Testis.
  3. "Expression of the CTCF-paralogous cancer-testis gene, brother of the regulator of imprinted sites (BORIS), is regulated by three alternative promoters modulated by CpG methylation and by CTCF and p53 transcription factors."
    Renaud S., Pugacheva E.M., Delgado M.D., Braunschweig R., Abdullaev Z., Loukinov D., Benhattar J., Lobanenkov V.
    Nucleic Acids Res. 35:7372-7388(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-177.
    Tissue: Testis.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-177.
    Tissue: Testis.
  5. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-177.
  8. "The novel BORIS + CTCF gene family is uniquely involved in the epigenetics of normal biology and cancer."
    Klenova E.M., Morse H.C. III, Ohlsson R., Lobanenkov V.V.
    Semin. Cancer Biol. 12:399-414(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  9. "DNA methyltransferase 1 and 3B activate BAG-1 expression via recruitment of CTCFL/BORIS and modulation of promoter histone methylation."
    Sun L., Huang L., Nguyen P., Bisht K.S., Bar-Sela G., Ho A.S., Bradbury C.M., Yu W., Cui H., Lee S., Trepel J.B., Feinberg A.P., Gius D.
    Cancer Res. 68:2726-2735(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  10. "BAT3 and SET1A form a complex with CTCFL/BORIS to modulate H3K4 histone dimethylation and gene expression."
    Nguyen P., Bar-Sela G., Sun L., Bisht K.S., Cui H., Kohn E., Feinberg A.P., Gius D.
    Mol. Cell. Biol. 28:6720-6729(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH BAG6/BAT3 AND SETD1A.

Entry informationi

Entry nameiCTCFL_HUMAN
AccessioniPrimary (citable) accession number: Q8NI51
Secondary accession number(s): A0S6W1
, A1L4C6, A6XGL8, A6XGM2, A6XGM3, A6XGM8, A6XGN0, A6XGN1, A6XGN2, A6XGN3, A6XGN4, E7EQ27, E7EUE3, E9PBA9, Q5JUG4, Q9BZ30, Q9NQJ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 23, 2003
Last sequence update: November 30, 2010
Last modified: October 29, 2014
This is version 121 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3