HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TEN1
TEN1 subunit of CST complex
Chromosome 17 · 17q25.1
NCBI Gene: 100134934Ensembl: ENSG00000257949.8HGNC: HGNC:37242UniProt: Q86WV5
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
CST complexprotein bindingnucleusnucleoplasmneurodegenerative diseasehypothyroidismperoxisomal acyl-CoA oxidase deficiencycancer
✦AI Summary

TEN1 is a critical component of the CST (CTC1-STN1-TEN1) complex that functions as a specialized replication factor essential for telomere maintenance and genome stability 1. The protein plays dual roles in telomere biology: it promotes telomere duplex replication and C-strand fill-in synthesis while also regulating telomere length homeostasis 1. TEN1 is recruited to telomeres through interactions with the POT1/TPP1 shelterin complex, where phosphorylated POT1 holds CST-Polα/primase in an autoinhibited state until telomerase completes G-strand extension 2. Beyond telomeres, TEN1 functions in genome-wide replication restart following fork stalling and contributes to DNA double-strand break repair pathway choice by suppressing DNA end resection 13. Loss of TEN1 function has significant clinical relevance, as demonstrated in mouse models where Ten1 deficiency causes telomere shortening, accelerated aging, aplastic anemia, and cerebellar hypoplasia - phenotypes resembling human dyskeratosis congenita 4. Pathogenic variants in TEN1 and its interacting partners are associated with telomere biology disorders, highlighting its crucial role in maintaining chr17 stability 5. The protein also cooperates with RECQ4 helicase to resolve G-quadruplex structures that can impede replication 6.

Sources cited
1
TEN1 functions as specialized replication factor in telomere duplex replication, C-strand fill-in, and genome-wide replication restart
PMID: 24025336
2
POT1 recruits TEN1-containing CST complex to telomeres and regulates CST-Polα/primase through phosphorylation-dependent mechanism
PMID: 38838667
3
TEN1 in CST complex suppresses DNA end resection and controls DNA double-strand break repair pathway choice
PMID: 40403056
4
Ten1 deficiency in mice causes telomere shortening, accelerated aging, aplastic anemia, and cerebellar hypoplasia resembling dyskeratosis congenita
PMID: 40215293
5
Pathogenic variants in TEN1 and interacting partners are associated with telomere biology disorders
PMID: 39198715
6
TEN1 cooperates with RECQ4 to resolve G-quadruplex structures and maintain genomic stability
PMID: 37493024
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.32Weak
hypothyroidismOpen Targets
0.15Weak
peroxisomal acyl-CoA oxidase deficiencyOpen Targets
0.15Weak
cancerOpen Targets
0.05Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
melanomaOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Invasive Breast CarcinomaOpen Targets
0.01Suggestive
prostate adenocarcinomaOpen Targets
0.01Suggestive
pachyonychia congenitaOpen Targets
0.01Suggestive
intellectual disability, X-linked 1Open Targets
0.00Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.00Suggestive
diffuse large B-cell lymphomaOpen Targets
0.00Suggestive
liver cancerOpen Targets
0.00Suggestive
lymphoid neoplasmOpen Targets
0.00Suggestive
mesotheliomaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
thyroid carcinomaOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POLA1Protein interaction100%PRIM1Protein interaction100%PRIM2Protein interaction100%TERF2Protein interaction100%POLA2Protein interaction100%TERF2IPProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
48%
Ovary
16%
Lung
16%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TEN1POLA1PRIM1PRIM2TERF2POLA2TERF2IP
PROTEIN STRUCTURE
Preparing viewer…
PDB4JOI · 2.05 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.23LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.47–1.23]
RankingsWhere TEN1 stands among ~20K protein-coding genes
  • #10,878of 20,598
    Most Researched36
  • #12,951of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedTEN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.
PMID: 40215293
Sci Adv · 2025
1.00
2
CTC1-STN1-TEN1 controls DNA break repair pathway choice via DNA end resection blockade.
PMID: 40403056
Science · 2025
0.90
3
POT1 recruits and regulates CST-Polα/primase at human telomeres.
PMID: 38838667
Cell · 2024
0.80
4
CST-Polα/Primase: the second telomere maintenance machine.
PMID: 37495394
Genes Dev · 2023
0.70
5
Human TEN1 maintains telomere integrity and functions in genome-wide replication restart.
PMID: 24025336
J Biol Chem · 2013
0.60