CTCFL

Protein-coding gene in the species Homo sapiens
CTCFL
Identifiers
AliasesCTCFL, BORIS, CT27, CTCF-T, HMGB1L1, dJ579F20.2, CCCTC-binding factor like
External IDsOMIM: 607022; MGI: 3652571; HomoloGene: 46476; GeneCards: CTCFL; OMA:CTCFL - orthologs
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[1]
Chromosome 2 (mouse)
Genomic location for CTCFL
Genomic location for CTCFL
Band2|2 H3Start172,935,402 bp[1]
End172,961,318 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • renal cortex

  • lymph node

  • blood

  • liver

  • right lobe of liver

  • kidney

  • duodenum

  • triceps surae

  • gastrocnemius muscle
Top expressed in
  • spinal ganglia

  • white adipose tissue

  • trigeminal ganglion

  • pons

  • anterior horn of spinal cord

  • ganglion of vagus nerve

  • piriform cortex

  • glossopharyngeal ganglion

  • spermatid

  • Greater petrosal nerve
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • DNA binding
  • sequence-specific DNA binding
  • histone binding
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • metal ion binding
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • protein binding
  • nucleic acid binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component
  • 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 by RNA polymerase II
  • transcription by RNA polymerase II
  • chromatin organization
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

140690

664799

Ensembl

n/a

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_001386993
NM_001386994
NM_001386995
NM_001386996
NM_001386997

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)n/aChr 2: 172.94 – 172.96 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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.[4]

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.[4]

References

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000070495 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ a b "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. S2CID 38340446.
  • 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2002PNAS...99.6806L. 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. Bibcode:2001Natur.414..865D. doi:10.1038/414865a. PMID 11780052.

External links


  • v
  • t
  • e