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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TEP1
telomerase associated protein 1
Chromosome 14 · 14q11.2
NCBI Gene: 7011Ensembl: ENSG00000129566.13HGNC: HGNC:11726UniProt: G3V5X7
59PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnuclear matrixtelomerase holoenzyme complextelomere maintenance via recombination
✦AI Summary

TEP1 (telomerase-associated protein 1) is a critical component of the telomerase ribonucleoprotein complex essential for chromosome 14 replication 1. Located on chromosome 14.2 2, TEP1 also functions as a structural component of vault particles, large cytoplasmic ribonucleoprotein complexes involved in intracellular transport 3. TEP1 localizes and stabilizes vault RNA within the vault ribonucleoprotein particle and binds telomerase RNA (TERC). Unlike hTERT, TEP1 shows constitutive expression across hematopoietic cell types and maintains stable expression during myeloid differentiation, suggesting a supporting rather than rate-limiting role in telomerase activity 4. Clinically, TEP1 has significant relevance in cancer biology. Genetic variations in TEP1, particularly rs1760904, are associated with decreased prostate cancer risk and longer telomere length, with certain genotypes protective against biochemical recurrence after radical prostatectomy 5. Additionally, TEP1 mutations occur in renal cell carcinomas (7.5% of primary cases), particularly in advanced clear-cell carcinomas with metastatic potential, suggesting involvement in late-stage tumorigenesis 6. TEP1 expression also correlates with multidrug resistance gene expression in melanoma cells 7, indicating broader implications in cancer progression and treatment resistance.

Sources cited
1
TEP1 is a component of the telomerase ribonucleoprotein complex essential for chromosome terminus replication
PMID: 19179534
2
TEP1 gene is located on human chromosome 14q11.2
PMID: 9403057
3
TEP1 is a component of vault particles, large ribonucleoprotein structures involved in intracellular transport
PMID: 14523546
4
TEP1 mRNA shows constitutive expression across hematopoietic cells and no differential expression during myeloid differentiation, unlike hTERT
PMID: 10613358
5
TEP1 rs1760904 genetic variants are associated with decreased prostate cancer risk and longer telomere length; certain genotypes are protective against biochemical recurrence
PMID: 26238235
6
TEP1 mutations occur in 7.5% of primary renal cell carcinomas, particularly in advanced clear-cell carcinomas with metastatic features
PMID: 11146448
7
TEP1 mRNA expression correlates with multidrug resistance gene expression in melanoma cells
PMID: 12792796
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNRPBProtein interaction100%SNRPEProtein interaction100%TRRAPProtein interaction100%TAF9Protein interaction100%SGF29Protein interaction100%TAF10Protein interaction100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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TEP1SNRPBSNRPETRRAPTAF9SGF29TAF10
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q99973
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Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.69–0.85]
RankingsWhere TEP1 stands among ~20K protein-coding genes
  • #7,824of 20,598
    Most Researched59
  • #7,343of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedTEP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Comparative gene mapping of the human and mouse TEP1 genes, which encode one protein component of telomerases.
PMID: 9403057
Genomics · 1997
1.00
2
Differential gene expression of human telomerase-associated protein hTERT and TEP1 in human hematopoietic cells.
PMID: 10613358
Leuk Res · 1999
0.90
3
The vault complex.
PMID: 14523546
Cell Mol Life Sci · 2003
0.80
4
Genetic variants in the TEP1 gene are associated with prostate cancer risk and recurrence.
PMID: 26238235
Prostate Cancer Prostatic Dis · 2015
0.70
5
PTEN/MMAC1/TEP1 mutations in human primary renal-cell carcinomas and renal carcinoma cell lines.
PMID: 11146448
Int J Cancer · 2001
0.60