TLN1 (Talin 1) Gene
A key cytoskeletal protein involved in integrin-mediated cell adhesion and signaling
Gene Information Card
| Symbol | TLN1 |
|---|---|
| Full Name | Talin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 7094 ncbi.nlm.nih.gov/gene/7094 |
| Ensembl ID | ENSG00000137076 |
| UniProt ID | Q9Y490 |
| OMIM ID | 186745 |
| HGNC ID | 11845 |
| Aliases | TLN, talin-1, KIAA1027 |
Description
TLN1 encodes talin 1, a high-molecular-weight cytoskeletal protein that localizes to focal adhesions. Talin 1 binds to integrin beta cytoplasmic tails, activating integrins and linking them to the actin cytoskeleton. It is essential for cell adhesion, migration, and signaling. The gene is widely expressed and mutations are associated with platelet dysfunction and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bleeding disorder, platelet-type 17 | Loss-of-function mutations in TLN1 impair integrin activation in platelets, leading to defective aggregation and prolonged bleeding. | OMIM #617603 |
| Colorectal cancer | TLN1 overexpression promotes cell migration and invasion via enhanced focal adhesion turnover. | PMID: 25609832 |
| Breast cancer | TLN1 upregulation correlates with poor prognosis and increased metastatic potential. | PMID: 27535985 |
| Melanoma | TLN1 silencing reduces integrin-mediated adhesion and tumor growth in xenograft models. | PMID: 23319682 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 58.2 | High |
| Heart | 45.1 | High |
| Lung | 32.4 | Medium |
| Liver | 28.7 | Medium |
| Brain | 18.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 62.3 | Embryonic kidney cells |
| HeLa | 55.8 | Cervical cancer cells |
| A549 | 48.1 | Lung carcinoma cells |
| MCF7 | 41.5 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.187C>T (p.Arg63*) | Nonsense | Rare | Loss of function; associated with platelet-type bleeding disorder |
| c.2450G>A (p.Arg817Gln) | Missense | 0.01% | Reduced integrin binding affinity |
| c.5423_5424insA (p.Asn1808Lysfs*2) | Frameshift | Rare | Loss of function; platelet dysfunction |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg63*, p.Asn1808Lysfs*2) cause truncated talin 1, impairing integrin activation and leading to bleeding disorders.
Gain of Function (GOF)
Not well documented; overexpression in cancers may confer gain-of-function in cell migration.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • integrin binding (GO:0005178) |
| • focal adhesion (GO:0005925) | • lamellipodium (GO:0030027) |
| • costamere (GO:0043034) | • actin filament binding (GO:0051015) |
Pathways
• Integrin signaling pathway (KEGG: hsa04510)
• Focal adhesion pathway (KEGG: hsa04510)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
Talin 1 is a 2541-amino-acid protein with an N-terminal FERM domain that binds integrin beta tails and a C-terminal rod domain that interacts with actin and vinculin. It functions as a mechanosensor, unfolding under force to expose cryptic binding sites. Talin 1 is critical for integrin activation, focal adhesion assembly, and cell migration. Its dysregulation contributes to cancer metastasis and platelet disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITLN1 Knockout HEK293 Cell Line | EDJ-KQ12056 | Human | 55600 | Details Get a Quote |
| ITLN1 Knockout HeLa Cell Line | EDJ-KQ56607 | Human | 55600 | Details Get a Quote |
| ITLN1 Knockout A-549 Cell Line | EDJ-KQ65106 | Human | 55600 | Details Get a Quote |
| ITLN1 Knockout HCT 116 Cell Line | EDJ-KQ73552 | Human | 55600 | Details Get a Quote |
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