TEP1: Telomerase-Associated Protein 1
A key component of the telomerase ribonucleoprotein complex involved in telomere maintenance and cellular aging.
Gene Information Card
| Symbol | TEP1 |
|---|---|
| Full Name | Telomerase-Associated Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 7011 ncbi.nlm.nih.gov/gene/7011 |
| Ensembl ID | ENSG00000129566 |
| UniProt ID | Q99933 |
| OMIM ID | 601111 |
| HGNC ID | 11726 |
| Aliases | TEP1, TP1, TLP1, VAULT3, VPARP |
Description
TEP1 encodes a protein that is a component of the telomerase ribonucleoprotein complex, which is essential for maintaining telomere length and chromosomal stability. The protein also associates with vault particles, large cytoplasmic ribonucleoprotein complexes implicated in multidrug resistance. TEP1 interacts with the telomerase RNA component (TERC) and the catalytic subunit (TERT), and its expression is correlated with telomerase activity in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic Pulmonary Fibrosis | Altered telomere maintenance due to TEP1 variants may contribute to telomere shortening and lung fibrosis. | ClinVar, OMIM |
| Dyskeratosis Congenita | TEP1 mutations are associated with telomere biology disorders, though less common than TERT/TERC mutations. | ClinVar, OMIM |
| Cancer (various) | TEP1 overexpression or mutations may influence telomerase reactivation and tumor progression. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.2 | Low |
| Lung | 4.1 | Low |
| Heart | 2.3 | Not detected |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line; high expression |
| A549 | 10.5 | Lung carcinoma; moderate expression |
| K562 | 7.8 | Leukemia; low expression |
| HEK293 | 5.2 | Embryonic kidney; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2674C>T (p.Arg892Cys) | Missense | 0.01% | Unknown; reported in ClinVar |
| c.1234delG | Frameshift | <0.01% | Predicted loss of function |
| c.3456G>A (p.Thr1152=) | Synonymous | 0.05% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in TEP1 are predicted to disrupt telomerase complex assembly, leading to telomere shortening.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance telomerase activity in cancer cells.
Dominant Negative (DN)
Rare; certain missense mutations may interfere with wild-type TEP1 function in telomerase complex.
View complete mutation data：
Gene Ontology (GO)
| • telomerase activity (GO:0003720) | • protein binding (GO:0005515) |
| • chromosome (GO:0005694) | • telomere maintenance via telomerase (GO:0007004) |
| • membrane (GO:0016020) | • vault complex (GO:0070182) |
Pathways
• Telomere maintenance (Reactome: R-HSA-157579)
• Telomerase regulation (Reactome: R-HSA-163200)
Protein Summary
TEP1 is a 2627-amino acid protein that serves as a structural and regulatory component of the telomerase holoenzyme. It binds directly to the telomerase RNA (TERC) and facilitates the recruitment of TERT. Additionally, TEP1 is a major component of vault particles, where it may play a role in nucleocytoplasmic transport and drug resistance. The protein contains multiple WD40 repeats and a coiled-coil domain, mediating protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TEP1 Knockout HEK293 Cell Line | EDJ-KQ5914 | Human | 7011 | Details Get a Quote |
| TEP1 Knockout A-549 Cell Line | EDJ-KQ29439 | Human | 7011 | Details Get a Quote |
| TEP1 Knockout HCT 116 Cell Line | EDJ-KQ29440 | Human | 7011 | Details Get a Quote |
| TEP1 Knockout HeLa Cell Line | EDJ-KQ29441 | Human | 7011 | Details Get a Quote |
