TEN1
TEN1 Subunit of the CST Complex
Gene Information Card
| Symbol | TEN1 |
|---|---|
| Full Name | TEN1 Subunit of CST Complex |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 100526760 ncbi.nlm.nih.gov/gene/100526760 |
| Ensembl ID | ENSG00000214253 |
| UniProt ID | Q86WV5 |
| OMIM ID | 613129 |
| HGNC ID | 37241 |
| Aliases | C17orf68, TEN1 homolog (C. elegans) |
Description
TEN1 encodes a component of the CST (CTC1-STN1-TEN1) complex, which is essential for telomere maintenance and replication. The complex binds single-stranded telomeric DNA and promotes telomerase-mediated telomere elongation, as well as protecting telomeres from aberrant DNA damage responses. Mutations in TEN1 are associated with telomere biology disorders, including dyskeratosis congenita.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyskeratosis congenita | Loss-of-function mutations impair CST complex function, leading to defective telomere maintenance and premature telomere shortening. | ClinVar, OMIM |
| Pulmonary fibrosis | Telomere dysfunction due to CST complex defects contributes to alveolar epithelial cell senescence. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lung | 6.1 | Low |
| Skin | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney cells |
| HeLa | 10.8 | Cervical cancer cells |
| K562 | 7.3 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.251C>T (p.Pro84Leu) | Missense | Rare | Impaired CST complex assembly and telomere elongation |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Reduced telomere binding and increased telomere fragility |
Mutation functional classification
Loss of Function (LOF)
Missense mutations disrupt CST complex formation and telomere maintenance.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • telomere maintenance | • telomere capping |
| • single-stranded telomeric DNA binding | • protein heterodimerization activity |
Pathways
• Telomere maintenance via CST complex
• Telomere replication and protection
Protein Summary
TEN1 is a small protein (approximately 13 kDa) that forms a heterotrimeric complex with CTC1 and STN1. The complex localizes to telomeres and is critical for telomere replication, protection, and length regulation. TEN1 directly binds single-stranded telomeric DNA and facilitates telomerase recruitment.
Related Services
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|---|---|---|---|---|
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