CTC1 Gene Summary [Human]
This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
Details
| Type | Protein Coding |
| Official Symbol | CTC1 |
| Official Name | CST telomere replication complex component 1 [Source:HGNC Symbol;Acc:HGNC:26169] |
| Ensembl ID | ENSG00000178971 |
| Bio databases IDs | |
| Aliases | CST telomere replication complex component 1, conserved telomere maintenance component 1, alpha accessory factor 132, conserved telomere capping protein 1 |
| Synonyms | 1500010J02Rik, AAF-132, C17orf68, CRMCC, CST telomere replication complex component 1, CTS telomere maintenance complex component 1, FLJ22170, RGD1563106, tmp494178 |
| 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 CTC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CST, telomere maintenance, complex subunit CTC1
- single-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- telomeric 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
- dyskeratosis congenita
- hereditary disorder
- Parkinson disease
- cerebroretinal microangiopathy with calcifications and cysts 1
- tinnitus
- chromosomal instability
- cerebroretinal microangiopathy with calcifications and cysts
role in cell
- proliferation
- accumulation in
- binding in
- number
- length
- formation
- formation in
- replication
- replication in
- abnormal morphology
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
- cytosol
- nucleoplasm
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CTC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- replicative senescence
- telomere maintenance
- spleen development
- positive regulation of DNA replication
- response to DNA damage stimulus
- bone marrow development
- thymus development
- positive regulation of fibroblast proliferation
- hemopoietic stem cell proliferation
- telomere maintenance via telomere lengthening
- negative regulation of telomere maintenance via telomerase
- telomere capping
- regulation of G2/M transition of mitotic cell cycle
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nucleus
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- telomeric DNA binding
- single-stranded DNA binding