CTCFL

Transcriptional repressor CTCFL also known as BORIS (Brother of Regulator of Imprinted Sites) is a protein that in humans is encoded by the CTCFL gene.[5]

CTCFL
Identifiers
Aliases	CTCFL, BORIS, CT27, CTCF-T, HMGB1L1, dJ579F20.2, CCCTC-binding factor like
External IDs	OMIM: 607022 MGI: 3652571 HomoloGene: 46476 GeneCards: CTCFL
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.31 Start 57,495,966 bp[1] End 57,525,652 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 H3 Start 173,093,609 bp[2] End 173,119,525 bp[2]
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • histone binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • metal ion binding • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001948 protein binding • nucleic acid binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cell nucleus • cytoplasm Biological process • regulation of gene expression by genetic imprinting • regulation of transcription, DNA-templated • regulation of histone H3-K4 methylation • DNA methylation involved in gamete generation • transcription, DNA-templated • positive regulation of transcription, DNA-templated • positive regulation of gene expression • cell cycle • histone methylation • positive regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • chromatin organization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	140690	664799
Ensembl	ENSG00000124092	ENSMUSG00000070495
UniProt	Q8NI51	A2APF3
RefSeq (mRNA)	NM_001269040 NM_001269041 NM_001269042 NM_001269043 NM_001269044 NM_001269045 NM_001269046 NM_001269047 NM_001269048 NM_001269049 NM_001269050 NM_001269051 NM_001269052 NM_001269054 NM_001269055 NM_080618	NM_001081387 NM_001355185
RefSeq (protein)	NP_001255969 NP_001255970 NP_001255971 NP_001255972 NP_001255973 NP_001255974 NP_001255975 NP_001255976 NP_001255977 NP_001255978 NP_001255979 NP_001255980 NP_001255981 NP_001255983 NP_001255984 NP_542185	NP_001074856 NP_001342114
Location (UCSC)	Chr 20: 57.5 – 57.53 Mb	Chr 2: 173.09 – 173.12 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

CCCTC-binding factor (CTCF), an 11-zinc finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. Transcriptional repressor CTCFL (this protein) is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and CTCFL are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation.[5]

References

1. GRCh38: Ensembl release 89: ENSG00000124092 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000070495 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: CTCFL CCCTC-binding factor (zinc finger protein)-like".

Further reading

• Klenova EM, Morse HC, Ohlsson R, Lobanenkov VV (2003). "The novel BORIS + CTCF gene family is uniquely involved in the epigenetics of normal biology and cancer". Semin. Cancer Biol. 12 (5): 399–414. doi:10.1016/S1044-579X(02)00060-3. PMID 12191639.
• D'Arcy V, Pore N, Docquier F, et al. (2008). "BORIS, a paralogue of the transcription factor, CTCF, is aberrantly expressed in breast tumours". Br. J. Cancer. 98 (3): 571–9. doi:10.1038/sj.bjc.6604181. PMC 2243163. PMID 18195709.
• Woloszynska-Read A, James SR, Link PA, et al. (2008). "DNA methylation-dependent regulation of BORIS/CTCFL expression in ovarian cancer". Cancer Immun. 7: 21. PMC 2935752. PMID 18095639.
• Renaud S, Pugacheva EM, Delgado MD, et al. (2008). "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". Nucleic Acids Res. 35 (21): 7372–88. doi:10.1093/nar/gkm896. PMC 2175345. PMID 17962299.
• Kholmanskikh O, Loriot A, Brasseur F, et al. (2008). "Expression of BORIS in melanoma: lack of association with MAGE-A1 activation". Int. J. Cancer. 122 (4): 777–84. doi:10.1002/ijc.23140. PMID 17957795. S2CID 28681146.
• Risinger JI, Chandramouli GV, Maxwell GL, et al. (2007). "Global expression analysis of cancer/testis genes in uterine cancers reveals a high incidence of BORIS expression". Clin. Cancer Res. 13 (6): 1713–9. doi:10.1158/1078-0432.CCR-05-2569. PMID 17363524.
• D'Arcy V, Abdullaev ZK, Pore N, et al. (2006). "The potential of BORIS detected in the leukocytes of breast cancer patients as an early marker of tumorigenesis". Clin. Cancer Res. 12 (20 Pt 1): 5978–86. doi:10.1158/1078-0432.CCR-05-2731. PMID 17062669.
• Hoffmann MJ, Müller M, Engers R, Schulz WA (2007). "Epigenetic control of CTCFL/BORIS and OCT4 expression in urogenital malignancies". Biochem. Pharmacol. 72 (11): 1577–88. doi:10.1016/j.bcp.2006.06.020. PMID 16854382.
• Hong JA, Kang Y, Abdullaev Z, et al. (2005). "Reciprocal binding of CTCF and BORIS to the NY-ESO-1 promoter coincides with derepression of this cancer-testis gene in lung cancer cells". Cancer Res. 65 (17): 7763–74. doi:10.1158/0008-5472.CAN-05-0823. PMID 16140944.
• Rodriguez M, Yu X, Chen J, Songyang Z (2004). "Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains". J. Biol. Chem. 278 (52): 52914–8. doi:10.1074/jbc.C300407200. PMID 14578343.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Loukinov DI, Pugacheva E, Vatolin S, et al. (2002). "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". Proc. Natl. Acad. Sci. U.S.A. 99 (10): 6806–11. doi:10.1073/pnas.092123699. PMC 124484. PMID 12011441.
• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.

External links

• FactorBook CTCFL
• Human CTCFL genome location and CTCFL gene details page in the UCSC Genome Browser.