• Gene id: 140690

Gene Summary

• Gene Symbol: CTCFL   Gene   UCSC   Ensembl
• Aliases: BORIS, CT27, CTCF-T, HMGB1L1, dJ579F20.2
• Gene name: CCCTC-binding factor like
• Alternate names: transcriptional repressor CTCFL, BORIS-like protein, brother of the regulator of imprinted sites, cancer/testis antigen 27,
• Gene location: 20q13.31 (57525651: 57495964)     Exons: 16     NC_000020.11
• Gene summary(Entrez): 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. This gene is a paralo
• OMIM: 607022

Protein Summary

• Protein general information: Q8NI51  
  • 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)
  • Length: 663  
  • Mass: 75,747
• Sequence:

  MAATEISVLSEQFTKIKELELMPEKGLKEEEKDGVCREKDHRSPSELEAERTSGAFQDSVLEEEVELVLAPSEES
  EKYILTLQTVHFTSEAVELQDMSLLSIQQQEGVQVVVQQPGPGLLWLEEGPRQSLQQCVAISIQQELYSPQEMEV
  LQFHALEENVMVASEDSKLAVSLAETTGLIKLEEEQEKNQLLAERTKEQLFFVETMSGDERSDEIVLTVSNSNVE
  EQEDQPTAGQADAEKAKSTKNQRKTKGAKGTFHCDVCMFTSSRMSSFNRHMKTHTSEKPHLCHLCLKTFRTVTLL
  RNHVNTHTGTRPYKCNDCNMAFVTSGELVRHRRYKHTHEKPFKCSMCKYASVEASKLKRHVRSHTGERPFQCCQC
  SYASRDTYKLKRHMRTHSGEKPYECHICHTRFTQSGTMKIHILQKHGENVPKYQCPHCATIIARKSDLRVHMRNL
  HAYSAAELKCRYCSAVFHERYALIQHQKTHKNEKRFKCKHCSYACKQERHMTAHIRTHTGEKPFTCLSCNKCFRQ
  KQLLNAHFRKYHDANFIPTVYKCSKCGKGFSRWINLHRHSEKCGSGEAKSAASGKGRRTRKRKQTILKEATKGQK
  EAAKGWKEAANGDEAAAEEASTTKGEQFPGEMFPVACRETTARVKEEVDEGVTCEMLLNTMDK

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000243914
• Other Databases: GeneCards:  CTCFL  Malacards:  CTCFL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006349	regulation of gene expression by genetic imprinting	ISS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0016571	histone methylation	ISS	biological process
GO:0042393	histone binding	ISS	molecular function
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051569	regulation of histone H3-K4 methylation	IMP	biological process
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006349	regulation of gene expression by genetic imprinting	IEA	biological process
GO:0006349	regulation of gene expression by genetic imprinting	ISS	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0016571	histone methylation	IEA	biological process
GO:0016571	histone methylation	ISS	biological process
GO:0042393	histone binding	IEA	molecular function
GO:0042393	histone binding	ISS	molecular function
GO:0043046	DNA methylation involved in gamete generation	IEA	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0051569	regulation of histone H3-K4 methylation	IMP	biological process
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006349	regulation of gene expression by genetic imprinting	ISS	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0016571	histone methylation	ISS	biological process
GO:0042393	histone binding	ISS	molecular function
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0051569	regulation of histone H3-K4 methylation	IMP	biological process

Diseases

Associated diseases	References
Cancer (breast)	GAD: 21034534
Sperm methylation errors	MIK: 23955684
Male factor infertility	MIK: 23955684
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Sperm methylation errors	MIK: 23955684
Male infertility	MIK: 23955684

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23955684	Sperm methylation errors, Male infertility	MTHFR rs1801133, CTCFL	Spanish	132 (107 infertile males, 25 fertile sperm donors)	Male infertility	MTHFR CTCFL
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881