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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TERF1
telomeric repeat binding factor 1
Chromosome 8 · 8q21.11
NCBI Gene: 7013Ensembl: ENSG00000147601.15HGNC: HGNC:11728UniProt: A0A7I2V5T5
235PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of telomeric D-loop disassemblychromosome, telomeric regionnucleustelomeric repeat DNA bindingneurodegenerative diseasemajor depressive disorderinsomniasecondary malignant neoplasm
✦AI Summary

TERF1 (telomeric repeat binding factor 1) is a core component of the shelterin complex that binds directly to telomeric 5'-TTAGGG-3' repeats and negatively regulates telomere length 1. As a primary shelterin protein, TERF1 protects chromosome 8 from inappropriate DNA repair activation and regulates telomerase activity 2. The protein also plays roles in mitotic spindle regulation and telomeric D-loop disassembly 1. Mechanistically, TERF1 modulates TERRA (telomeric repeat-containing RNA) annealing to telomeres, actively repressing this process and failing to protect TERRA from RNase H digestion, contrasting with TRF2's stabilizing function 3. TERF1 expression increases in response to oxidative stress in inflammatory conditions 4. Clinically, TERF1 alterations associate with disease susceptibility. TERF1 amplification/upregulation predicts worse overall survival in prostate cancer 5, and elevated TERF1 expression correlates with survival outcomes across 24 cancer types 2. TERF1 gene variants link to male infertility risk 1, and a tissue-specific isoform (TERF1-tsi) is downregulated in testicular tumors 6. TERF1 also emerges as an autoantigen in systemic sclerosis patients 7.

Sources cited
1
TERF1 is a primary Shelterin component that binds telomeric repeats, controls telomere length/function by regulating telomerase, and TERF1 variants associate with male infertility
PMID: 36995171
2
TERF1 is identified as an essential shelterin protein; shelterin expression predicts survival across 24 cancer types with significant TERF1 expression in multiple cancer types
PMID: 39578854
3
TERF1 represses TERRA annealing to telomeric duplex and fails to protect TERRA from RNase H digestion, contrasting with TRF2 stabilization
PMID: 39189448
4
TERF1 maintains telomere length; TERF1 expression increases in RA patients, particularly those with ILD, suggesting involvement in oxidative stress response
PMID: 40035723
5
TERF1 amplification/upregulation associates with worse overall and disease-free survival in prostate cancer; miR-155 regulates TERF1 expression
PMID: 34486082
6
A novel TERF1 tissue-specific isoform (TERF1-tsi) is expressed in spermatogonial and hematopoietic stem cells and is specifically downregulated in testicular tumors
PMID: 31877678
7
TERF1 is identified as a telomere/telomerase-associated autoantigen in patients with systemic sclerosis
PMID: 36634459
8
TERF1/TERF2 gene expression is differentially dispersed by aging in human brains, showing age-dependent variance changes
PMID: 27536236
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
major depressive disorderOpen Targets
0.43Moderate
insomniaOpen Targets
0.40Moderate
secondary malignant neoplasmOpen Targets
0.35Weak
frozen shoulderOpen Targets
0.35Weak
PainOpen Targets
0.32Weak
post-traumatic stress disorderOpen Targets
0.31Weak
gastroesophageal reflux diseaseOpen Targets
0.31Weak
ovarian dysfunctionOpen Targets
0.31Weak
ovarian neoplasmOpen Targets
0.16Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.09Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
lung carcinomaOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
cervical carcinomaOpen Targets
0.06Suggestive
renal cell carcinomaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DKC1Protein interaction100%DCLRE1BProtein interaction100%ATRXProtein interaction100%BLMProtein interaction100%TPP1Protein interaction100%FBXO4Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
98%
Ovary
92%
Heart
71%
Liver
46%
Lung
41%
Gene Interaction Network
Click a node to explore
TERF1DKC1DCLRE1BATRXBLMTPP1FBXO4
PROTEIN STRUCTURE
Preparing viewer…
PDB1W0T · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.60LoF Tolerant
pLIⓘ
0.87Intermediate
Observed/Expected LoF0.29 [0.15–0.60]
RankingsWhere TERF1 stands among ~20K protein-coding genes
  • #1,696of 20,598
    Most Researched235 · top 10%
  • #4,106of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedTERF1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
PMID: 36995171
J Biomol Struct Dyn · 2023
1.00
2
Identification of new telomere- and telomerase-associated autoantigens in systemic sclerosis.
PMID: 36634459
J Autoimmun · 2023
0.90
3
Combatting cellular immortality in cancers by targeting the shelterin protein complex.
PMID: 39578854
Biol Direct · 2024
0.80
4
Knockout of Shelterin subunit genes in zebrafish results in distinct outcomes.
PMID: 35667242
Biochem Biophys Res Commun · 2022
0.72
5
Alteration of telomere length and mtDNA copy number in interstitial lung disease associated with rheumatoid arthritis.
PMID: 40035723
Autoimmunity · 2025
0.70