CTCFL - CCCTC-binding factor like Gene

Also Known as CT27; BORIS; CTCF-T; HMGB1L1; dJ579F20.2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 140690

About CTCFL

Cytogenetic location: 20q13.31 Genomic coordinates (GRCh38): 20:57,495,965-57,525,652 (from NCBI)

This gene has 22 transcripts (splice variants), 407 orthologues and 36 paralogues. Restricted expression toward testis (RPKM 3.5).

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]

CTCFL Products (21)

mRNA Protein Name
NM_001269040.2 NP_001255969.1 transcriptional repressor CTCFL isoform 1
NM_001269041.2 NP_001255970.1 transcriptional repressor CTCFL isoform 1
NM_001269042.2 NP_001255971.1 transcriptional repressor CTCFL isoform 2
NM_001269043.2 NP_001255972.1 transcriptional repressor CTCFL isoform 3
NM_001269044.3 NP_001255973.1 transcriptional repressor CTCFL isoform 4
NM_001269045.2 NP_001255974.1 transcriptional repressor CTCFL isoform 5
NM_001269046.2 NP_001255975.1 transcriptional repressor CTCFL isoform 6
NM_001269047.2 NP_001255976.1 transcriptional repressor CTCFL isoform 7
NM_001269048.3 NP_001255977.1 transcriptional repressor CTCFL isoform 8
NM_001269049.2 NP_001255978.1 transcriptional repressor CTCFL isoform 9
NM_001269050.3 NP_001255979.1 transcriptional repressor CTCFL isoform 10
NM_001269051.2 NP_001255980.1 transcriptional repressor CTCFL isoform 11
NM_001269052.3 NP_001255981.1 transcriptional repressor CTCFL isoform 11
NM_001269054.2 NP_001255983.1 transcriptional repressor CTCFL isoform 12
NM_001269055.3 NP_001255984.1 transcriptional repressor CTCFL isoform 13
NM_001386993.1 NP_001373922.1 transcriptional repressor CTCFL isoform 1
NM_001386994.1 NP_001373923.1 transcriptional repressor CTCFL isoform 2
NM_001386995.1 NP_001373924.1 transcriptional repressor CTCFL isoform 2
NM_001386996.1 NP_001373925.1 transcriptional repressor CTCFL isoform 11
NM_001386997.1 NP_001373926.1 transcriptional repressor CTCFL isoform 14
NM_080618.4 NP_542185.2 transcriptional repressor CTCFL isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables DNA binding IDA
IDA: Inferred from direct assay
18413740 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
16140944 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
16140944 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18765639 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
18765639 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
18413740 GOA
Biological Process GO Annotation Evidence References Source
involved in establishment of protein localization to chromatin IMP
IMP: Inferred from mutant phenotype
18765639 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
18413740 GOA
involved in positive regulation of gene expression IDA
IDA: Inferred from direct assay
18413740 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
16140944 GOA
involved in transcription initiation-coupled chromatin remodeling IMP
IMP: Inferred from mutant phenotype
18765639 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CTCFL Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (272 - 296)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (300 - 324)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (328 - 351)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (357 - 378)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (385 - 408)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (428 - 451)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (473 - 496)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (502 - 524)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (546 - 568)

  • 0
  • 200
  • 400
  • 600
  • 663 a.a.
Protein Preferred Names Protein Names

transcriptional repressor CTCFL

  • BORIS-like protein

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 21

  • MRD21

  • Mental Retardation, Autosomal Dominant 21

  • Autosomal Dominant Non-Syndromic Intellectual Disability 21

  • Autosomal Dominant Intellectual Developmental Disorder 21

  • Autosomal Dominant Mental Retardation 21

  • Ctcf-Related Neurodevelopmental Disorder

  • Mental Retardation, Autosomal Dominant, Type 21
Testicular Cancer

  • Testis Cancer

  • Testicular Carcinoma

  • Testicular Neoplasms

  • Malignant Neoplasm Of Testis

  • Childhood Neoplasm Of The Testis

  • Neoplasm Of Testis

  • Pediatric Testicular Neoplasm

  • Testicular Tumor

  • Testis Neoplasm

  • Testicular Tumors

  • Testicular Neoplasm

  • Testicular Malignant Germ Cell Tumor

  • Childhood Testicular Neoplasm

  • Carcinoma Of The Testis

  • Cancer Of Testis

  • Malignant Neoplasm Of Testis, Nos

  • Malignant Neoplasm Of Testis, Unspecified

  • Malignant Tumour Of Testis

  • Testicle Cancer

  • Primary Malignant Neoplasm Of Testis
Male Infertility

  • Infertility, Male

  • Infertility Male

  • Male Sterility

  • Absolute Infertility
Silver-Russell Syndrome 1

  • Silver-Russell Syndrome

  • Russell-Silver Syndrome

  • Silver-Russell Dwarfism

  • Rss

  • SRS1

  • Srs

  • Silver Russell Dwarfism

  • Russell Silver Syndrome

  • Silver Russell Syndrome
Cornelia De Lange Syndrome

  • De Lange Syndrome

  • Brachmann De Lange Syndrome

  • Brachmann-De Lange Syndrome

  • Cdls

  • Bdls

  • Typus Degenerativus Amstelodamensis
Beckwith-Wiedemann Syndrome

  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03288 CTCFL Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20388 Ctcfl Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus CTCFL MGD MGI:3652571
Macaca mulatta CTCFL VGNC VGNC:71420
Canis familiaris CTCFL VGNC VGNC:54644
Rattus norvegicus CTCFL RGD RGD:2321501
Others CTCFL NCBI