| Tag | Content |
|---|---|
| UniProt Accession | CTCFL_HUMAN; Q8NI51; |
| Entrez ID | 140690 |
| GenBank Protein ID | NM_001269040.1; NM_001269041.1; NM_001269042.1; NM_001269043.1; NM_001269044.1; NM_001269045.1; NM_001269046.1; NM_001269047.1; NM_001269048.1; NM_001269049.1; NM_001269050.1; NM_001269051.1; NM_001269052.1; NM_001269054.1; NM_001269055.1; NM_080618.3; |
| GenBank Nucleotide ID | NP_001255969.1; NP_001255970.1; NP_001255971.1; NP_001255972.1; NP_001255973.1; NP_001255974.1; NP_001255975.1; NP_001255976.1; NP_001255977.1; NP_001255978.1; NP_001255979.1; NP_001255980.1; NP_001255981.1; NP_001255983.1; NP_001255984.1; NP_542185.2; |
| Protein Name | Transcriptional repressor CTCFL (Brother of the regulator of imprinted sites) (CCCTC-binding factor) (CTCF paralog) (CTCF-like protein) (Cancer/testis antigen 27) (CT27) (Zinc finger protein CTCF-T) |
| Gene Name | CTCFL; BORIS |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | 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. |
| Sequence (Fasta) | MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE RTSGAFQDSV 60 LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL SIQQQEGVQV VVQQPGPGLL 120 WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV LQFHALEENV MVASEDSKLA VSLAETTGLI 180 KLEEEQEKNQ LLAERTKEQL FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK 240 AKSTKNQRKT KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL 300 RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA SVEASKLKRH 360 VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGEKPYEC HICHTRFTQS GTMKIHILQK 420 HGENVPKYQC PHCATIIARK SDLRVHMRNL HAYSAAELKC RYCSAVFHER YALIQHQKTH 480 KNEKRFKCKH CSYACKQERH MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN AHFRKYHDAN 540 FIPTVYKCSK CGKGFSRWIN LHRHSEKCGS GEAKSAASGK GRRTRKRKQT ILKEATKGQK 600 EAAKGWKEAA NGDEAAAEEA STTKGEQFPG EMFPVACRET TARVKEEVDE GVTCEMLLNT 660 MDK 664 |
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| Database | Annotation |
|---|---|
| GWASdb (count: 4) | rs2209885; Suicide attempts in bipolar disorder; bipolar disorder
rs11700100; Response to cytadine analogues (cytosine arabinoside); cancer rs12625924; Alzheimer's disease; Alzheimer's disease rs6025606; Smoking cessation; nicotine dependence |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 13) (view all) | 256 KTKGAKGTFHCDVCM dbPAF
270 MFTSSRMSSFNRHMK dbPAF 271 FTSSRMSSFNRHMKT dbPAF 393 KRHMRTHSGEKPYEC dbPAF 410 CHTRFTQSGTMKIHI dbPAF 43 CREKDHRSPSELEAE dbPAF |