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Q8NI51

- CTCFL_HUMAN

UniProt

Q8NI51 - CTCFL_HUMAN

Protein

Transcriptional repressor CTCFL

Gene

CTCFL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 2 (30 Nov 2010)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    5. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
    6. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB
    7. sequence-specific DNA binding Source: UniProtKB
    8. 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

    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-SubCell
    2. nucleus Source: UniProtKB

    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.
    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 231-593.
    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.
    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

    MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE    50
    RTSGAFQDSV LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL 100
    SIQQQEGVQV VVQQPGPGLL WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV 150
    LQFHALEENV MVASEDSKLA VSLAETTGLI KLEEEQEKNQ LLAERTKEQL 200
    FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK AKSTKNQRKT 250
    KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL 300
    RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA 350
    SVEASKLKRH VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGEKPYEC 400
    HICHTRFTQS GTMKIHILQK HGENVPKYQC PHCATIIARK SDLRVHMRNL 450
    HAYSAAELKC RYCSAVFHER YALIQHQKTH KNEKRFKCKH CSYACKQERH 500
    MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN AHFRKYHDAN FIPTVYKCSK 550
    CGKGFSRWIN LHRHSEKCGS GEAKSAASGK GRRTRKRKQT ILKEATKGQK 600
    EAAKGWKEAA NGDEAAAEEA STTKGEQFPG EMFPVACRET TARVKEEVDE 650
    GVTCEMLLNT MDK 663
    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 231-593.
    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.
    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.
    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

    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 1, 2014
    This is version 120 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