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    CTCFL CCCTC-binding factor like [ Homo sapiens (human) ]

    Gene ID: 140690, updated on 2-Nov-2024

    Summary

    Official Symbol
    CTCFLprovided by HGNC
    Official Full Name
    CCCTC-binding factor likeprovided by HGNC
    Primary source
    HGNC:HGNC:16234
    See related
    Ensembl:ENSG00000124092 MIM:607022; AllianceGenome:HGNC:16234
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT27; BORIS; CTCF-T; HMGB1L1; dJ579F20.2
    Summary
    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 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 the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
    Expression
    Restricted expression toward testis (RPKM 3.5) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CTCFL in Genome Data Viewer
    Location:
    20q13.31
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (57495965..57525652, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (59273778..59303467, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (56071021..56100708, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372688 Neighboring gene Sharpr-MPRA regulatory region 5175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:56039390-56040220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56042501-56043002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56045653-56046391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56048063-56048564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56048565-56049064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56051358-56051858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13063 Neighboring gene MPRA-validated peak4284 silencer Neighboring gene high mobility group box 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56074415-56074974 Neighboring gene MPRA-validated peak4285 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:56098387-56099325 Neighboring gene uncharacterized LOC124904940 Neighboring gene uncharacterized LOC124904941

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    EBI GWAS Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog
    Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC163358, MGC169105, MGC169106

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin insulator sequence binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    transcriptional repressor CTCFL
    Names
    BORIS-like protein
    brother of the regulator of imprinted sites
    cancer/testis antigen 27

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001269040.2NP_001255969.1  transcriptional repressor CTCFL isoform 1

      See identical proteins and their annotated locations for NP_001255969.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS13459.1
      UniProtKB/Swiss-Prot
      A0S6W1, A1L4C6, A6XGL8, A6XGM2, A6XGM3, A6XGM8, A6XGN0, A6XGN1, A6XGN2, A6XGN3, A6XGN4, E7EQ27, E7EUE3, E9PBA9, Q5JUG4, Q8NI51, Q9BZ30, Q9NQJ3
      UniProtKB/TrEMBL
      B2RA05
      Related
      ENSP00000360239.2, ENST00000371196.6
      Conserved Domains (3) summary
      COG5048
      Location:259403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:344364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd20908
      Location:392432
      SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins
    2. NM_001269041.2NP_001255970.1  transcriptional repressor CTCFL isoform 1

      See identical proteins and their annotated locations for NP_001255970.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS13459.1
      UniProtKB/Swiss-Prot
      A0S6W1, A1L4C6, A6XGL8, A6XGM2, A6XGM3, A6XGM8, A6XGN0, A6XGN1, A6XGN2, A6XGN3, A6XGN4, E7EQ27, E7EUE3, E9PBA9, Q5JUG4, Q8NI51, Q9BZ30, Q9NQJ3
      UniProtKB/TrEMBL
      B2RA05
      Related
      ENSP00000476783.1, ENST00000608263.5
      Conserved Domains (3) summary
      COG5048
      Location:259403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:344364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd20908
      Location:392432
      SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins
    3. NM_001269042.2NP_001255971.1  transcriptional repressor CTCFL isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      UniProtKB/TrEMBL
      B2RA05
      Conserved Domains (3) summary
      COG5048
      Location:259403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:344364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd20908
      Location:392432
      SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins
    4. NM_001269043.2NP_001255972.1  transcriptional repressor CTCFL isoform 3

      See identical proteins and their annotated locations for NP_001255972.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS58780.1
      UniProtKB/TrEMBL
      B2RA05
      Related
      ENSP00000415579.2, ENST00000423479.7
      Conserved Domains (3) summary
      COG5048
      Location:259403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:344364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:385409
      zf-H2C2_2; Zinc-finger double domain
    5. NM_001269044.3NP_001255973.1  transcriptional repressor CTCFL isoform 4

      See identical proteins and their annotated locations for NP_001255973.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS58781.1
      UniProtKB/TrEMBL
      B2RA05
      Related
      ENSP00000477488.1, ENST00000608440.5
      Conserved Domains (3) summary
      COG5048
      Location:259403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:344364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd20908
      Location:392432
      SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins
    6. NM_001269045.2NP_001255974.1  transcriptional repressor CTCFL isoform 5

      See identical proteins and their annotated locations for NP_001255974.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS68164.1
      UniProtKB/TrEMBL
      A6XGM9, V9GY73
      Related
      ENSP00000476458.1, ENST00000608425.5
      Conserved Domains (3) summary
      COG5048
      Location:259403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:344364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:385409
      zf-H2C2_2; Zinc-finger double domain
    7. NM_001269046.2NP_001255975.1  transcriptional repressor CTCFL isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS58779.1
      UniProtKB/TrEMBL
      B2RA05
      Related
      ENSP00000415329.2, ENST00000429804.7
      Conserved Domains (3) summary
      COG5048
      Location:259443
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:259279
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:357378
      zf-H2C2_2; Zinc-finger double domain
    8. NM_001269047.2NP_001255976.1  transcriptional repressor CTCFL isoform 7

      See identical proteins and their annotated locations for NP_001255976.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS58782.1
      UniProtKB/TrEMBL
      A6XGM9
      Related
      ENSP00000399061.2, ENST00000422869.6
      Conserved Domains (3) summary
      COG5048
      Location:259403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:344364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:385409
      zf-H2C2_2; Zinc-finger double domain
    9. NM_001269048.3NP_001255977.1  transcriptional repressor CTCFL isoform 8

      See identical proteins and their annotated locations for NP_001255977.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS58778.1
      UniProtKB/Swiss-Prot
      Q8NI51
      Related
      ENSP00000409344.2, ENST00000432255.6
      Conserved Domains (3) summary
      COG5048
      Location:259413
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:259279
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:300324
      zf-H2C2_2; Zinc-finger double domain
    10. NM_001269049.2NP_001255978.1  transcriptional repressor CTCFL isoform 9

      See identical proteins and their annotated locations for NP_001255978.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS68162.1
      UniProtKB/Swiss-Prot
      Q8NI51
      Related
      ENSP00000392034.3, ENST00000433949.7
      Conserved Domains (3) summary
      COG5048
      Location:54198
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:139159
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:180204
      zf-H2C2_2; Zinc-finger double domain
    11. NM_001269050.3NP_001255979.1  transcriptional repressor CTCFL isoform 10

      See identical proteins and their annotated locations for NP_001255979.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS58777.1
      UniProtKB/Swiss-Prot
      Q8NI51
      Related
      ENSP00000439998.1, ENST00000539382.5
      Conserved Domains (3) summary
      COG5048
      Location:54198
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:139159
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:180204
      zf-H2C2_2; Zinc-finger double domain
    12. NM_001269051.2NP_001255980.1  transcriptional repressor CTCFL isoform 11

      See identical proteins and their annotated locations for NP_001255980.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS68163.1
      UniProtKB/TrEMBL
      A6XGM0, V9GYX4
      Related
      ENSP00000476577.1, ENST00000481655.2
      Conserved Domains (2) summary
      sd00017
      Location:259279
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:271296
      zf-H2C2_2; Zinc-finger double domain
    13. NM_001269052.3NP_001255981.1  transcriptional repressor CTCFL isoform 11

      See identical proteins and their annotated locations for NP_001255981.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS68163.1
      UniProtKB/TrEMBL
      A6XGM0, V9GYX4
      Related
      ENSP00000477165.1, ENST00000608158.5
      Conserved Domains (2) summary
      sd00017
      Location:259279
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:271296
      zf-H2C2_2; Zinc-finger double domain
    14. NM_001269054.2NP_001255983.1  transcriptional repressor CTCFL isoform 12

      See identical proteins and their annotated locations for NP_001255983.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS58776.1
      UniProtKB/Swiss-Prot
      Q8NI51
      Related
      ENSP00000437999.1, ENST00000502686.6
      Conserved Domains (3) summary
      COG5048
      Location:3141
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:82102
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:123147
      zf-H2C2_2; Zinc-finger double domain
    15. NM_001269055.3NP_001255984.1  transcriptional repressor CTCFL isoform 13

      See identical proteins and their annotated locations for NP_001255984.1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS68161.1
      UniProtKB/Swiss-Prot
      Q8NI51
      Related
      ENSP00000476718.1, ENST00000608903.5
      Conserved Domains (3) summary
      COG5048
      Location:3141
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:82102
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:123147
      zf-H2C2_2; Zinc-finger double domain
    16. NM_001386993.1NP_001373922.1  transcriptional repressor CTCFL isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS13459.1
      UniProtKB/Swiss-Prot
      A0S6W1, A1L4C6, A6XGL8, A6XGM2, A6XGM3, A6XGM8, A6XGN0, A6XGN1, A6XGN2, A6XGN3, A6XGN4, E7EQ27, E7EUE3, E9PBA9, Q5JUG4, Q8NI51, Q9BZ30, Q9NQJ3
      UniProtKB/TrEMBL
      B2RA05
      Related
      ENSP00000243914.3, ENST00000243914.8
      Conserved Domains (3) summary
      COG5048
      Location:259403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:344364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd20908
      Location:392432
      SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins
    17. NM_001386994.1NP_001373923.1  transcriptional repressor CTCFL isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      UniProtKB/TrEMBL
      B2RA05
      Conserved Domains (3) summary
      COG5048
      Location:259403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:344364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd20908
      Location:392432
      SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins
    18. NM_001386995.1NP_001373924.1  transcriptional repressor CTCFL isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      UniProtKB/TrEMBL
      B2RA05
      Conserved Domains (3) summary
      COG5048
      Location:259403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:344364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd20908
      Location:392432
      SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins
    19. NM_001386996.1NP_001373925.1  transcriptional repressor CTCFL isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS68163.1
      UniProtKB/TrEMBL
      A6XGM0, V9GYX4
      Conserved Domains (2) summary
      sd00017
      Location:259279
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:271296
      zf-H2C2_2; Zinc-finger double domain
    20. NM_001386997.1NP_001373926.1  transcriptional repressor CTCFL isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      UniProtKB/TrEMBL
      B2RA05
      Conserved Domains (3) summary
      COG5048
      Location:259443
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:259279
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13909
      Location:436460
      zf-H2C2_5; C2H2-type zinc-finger domain
    21. NM_080618.4NP_542185.2  transcriptional repressor CTCFL isoform 1

      See identical proteins and their annotated locations for NP_542185.2

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Consensus CDS
      CCDS13459.1
      UniProtKB/Swiss-Prot
      A0S6W1, A1L4C6, A6XGL8, A6XGM2, A6XGM3, A6XGM8, A6XGN0, A6XGN1, A6XGN2, A6XGN3, A6XGN4, E7EQ27, E7EUE3, E9PBA9, Q5JUG4, Q8NI51, Q9BZ30, Q9NQJ3
      UniProtKB/TrEMBL
      B2RA05
      Related
      ENSP00000476398.1, ENST00000609232.5
      Conserved Domains (3) summary
      COG5048
      Location:259403
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:344364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd20908
      Location:392432
      SUF4-like; N-terminal domain of Oryza sativa transcription factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana SUF4 (AtSUF4), and similar proteins

    RNA

    1. NR_072975.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Related
      ENST00000426658.6
    2. NR_170377.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL035541, AL160176
      Related
      ENST00000422109.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      57495965..57525652 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      59273778..59303467 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)