CTCFL Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CTCFL |
| Official Name | CCCTC-binding factor like [Source:HGNC Symbol;Acc:HGNC:16234] |
| Ensembl ID | ENSG00000124092 |
| Bio databases IDs | |
| Aliases | CCCTC-binding factor like, cancer/testis antigen 27, transcriptional repressor CTCFL, brother of the regulator of imprinted sites |
| Synonyms | BORIS, CCCTC-binding factor, CCCTC-binding factor like, CCCTC-binding factor like 1, CT27, Ctcfl1, CTCF-T, dJ579F20.2, HMGB1L1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CTCFL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- histone binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- C2H2-type zinc-finger domain
- Zinc-finger double domain
- protein binding
- sequence-specific DNA binding
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetic nephropathy
- soft tissue sarcoma cancer
- desmoplastic small round cell tumor
- congenital malformation
role in cell
- activation in
- expression in
- proliferation
- apoptosis
- cell death
- growth
- production in
- quantity
- transactivation in
- uptake in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CTCFL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of gene expression, epigenetic
- positive regulation of transcription, DNA-dependent
- positive regulation of gene expression
- establishment of protein localization to chromatin
- positive regulation of transcription from RNA polymerase II promoter
- genetic imprinting
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- cytosol
- chromosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- histone binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- chromatin insulator sequence binding
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription