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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TLN1
talin 1
Chromosome 9 · 9p13.3
NCBI Gene: 7094Ensembl: ENSG00000137076.23HGNC: HGNC:11845UniProt: Q9Y490
324PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
LIM domain bindingfocal adhesionintegrin bindingplasma membranecancerNoonan syndromehypertrophic cardiomyopathyCostello syndrome
✦AI Summary

TLN1 encodes talin-1, a high molecular weight cytoskeletal protein that serves as a critical scaffold at focal adhesions, connecting integrins to the actin cytoskeleton 1. Talin-1 functions as a key regulator of cell adhesion and migration by mediating integrin-β1 binding and activating the FAK-AKT signaling pathway 1. The protein undergoes complex regulatory mechanisms, including ubiquitin-mediated degradation controlled by TRIM21 and stabilization through deubiquitination by USP25 23. In platelets, USP25-mediated talin-1 stabilization contributes to age-related platelet hyperreactivity and thrombosis risk 3. TLN1 expression is transcriptionally regulated by the cooperative interaction between FLI1 and GATA1 transcription factors, with defective cooperation leading to talin-1 deficiency and platelet dysfunction 4. Clinically, TLN1 dysregulation is implicated in multiple pathological conditions. Loss-of-function variants in focal adhesion scaffold genes including TLN1 contribute to thoracic aortic aneurysm pathogenesis by disrupting vascular smooth muscle cell contractility 5. Conversely, TLN1 overexpression promotes triple-negative breast cancer metastasis through enhanced focal adhesion dynamics and epithelial-mesenchymal transition 1. Additionally, TLN1 has been identified as a potential therapeutic target in migraine through genome-wide Mendelian randomization studies 6.

Sources cited
1
TLN1 encodes talin-1 as a cytoskeletal scaffold protein and mediates integrin-β1 binding and FAK-AKT signaling
PMID: 35285795
2
TRIM21 regulates talin-1 ubiquitination and degradation in breast cancer cells
PMID: 37460470
3
USP25 stabilizes talin-1 through deubiquitination, contributing to age-related platelet hyperreactivity
PMID: 40997299
4
FLI1 and GATA1 cooperatively regulate TLN1 transcription, affecting platelet function
PMID: 39744817
5
TLN1 variants contribute to thoracic aortic aneurysm through disrupted vascular smooth muscle cell contractility
PMID: 33092471
6
TLN1 identified as potential therapeutic target for migraine through Mendelian randomization
PMID: 38867170
Disease Associationsⓘ20
cancerOpen Targets
0.61Moderate
Noonan syndromeOpen Targets
0.53Moderate
hypertrophic cardiomyopathyOpen Targets
0.51Moderate
Costello syndromeOpen Targets
0.50Moderate
cardiofaciocutaneous syndromeOpen Targets
0.37Weak
capillary leak syndromeOpen Targets
0.27Weak
alopecia areataOpen Targets
0.22Weak
ovarian neoplasmOpen Targets
0.21Weak
gastric carcinomaOpen Targets
0.16Weak
hepatocellular carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
cardiomyopathyOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.10Weak
posterior cortical atrophyOpen Targets
0.09Suggestive
prostate cancerOpen Targets
0.09Suggestive
coronary artery diseaseOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
melanomaOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
Pathogenic Variants1
NM_006289.4(TLN1):c.7188+2T>CLikely pathogenic
Capillary leak syndrome
★☆☆☆
View on ClinVar ↗
Related Genes
ACTG1Protein interaction100%DMDProtein interaction100%CTTNProtein interaction100%PTK2BProtein interaction100%FN1Protein interaction100%GSNProtein interaction100%
Tissue Expression6 tissues
Lung
100%
Heart
52%
Ovary
46%
Brain
33%
Bone Marrow
28%
Liver
27%
Gene Interaction Network
Click a node to explore
TLN1ACTG1DMDCTTNPTK2BFN1GSN
PROTEIN STRUCTURE
Preparing viewer…
PDB4DJ9 · 2.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.24Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.15–0.24]
RankingsWhere TLN1 stands among ~20K protein-coding genes
  • #1,022of 20,598
    Most Researched324 · top 5%
  • #4,657of 5,498
    Most Pathogenic Variants1
  • #674of 17,882
    Most Constrained (LOEUF)0.24 · top 5%
Genes detectedTLN1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Identifying therapeutic target genes for migraine by systematic druggable genome-wide Mendelian randomization.
PMID: 38867170
J Headache Pain · 2024
1.00
2
BCKDK regulates breast cancer cell adhesion and tumor metastasis by inhibiting TRIM21 ubiquitinate talin1.
PMID: 37460470
Cell Death Dis · 2023
0.90
3
USP25-mediated talin-1 stabilization in platelets: a novel mechanism of hyperreactivity and thrombosis risk during aging.
PMID: 40997299
Blood · 2026
0.80
4
Uptake of small extracellular vesicles by recipient cells is facilitated by paracrine adhesion signaling.
PMID: 40075063
Nat Commun · 2025
0.80
5
miR-3154: Novel Pathogenic and Therapeutic Target in Abdominal Aortic Aneurysm.
PMID: 40636968
Circ Res · 2025
0.70