ITGA11 (Integrin Subunit Alpha 11): Structure, Function, and Clinical Relevance
A collagen-binding integrin implicated in fibrosis, cancer, and musculoskeletal disorders
Gene Information Card
| Symbol | ITGA11 |
|---|---|
| Full Name | Integrin Subunit Alpha 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q23 |
| NCBI Gene ID | 22801 ncbi.nlm.nih.gov/gene/22801 |
| Ensembl ID | ENSG00000137809 |
| UniProt ID | Q9UKX5 |
| OMIM ID | 604961 |
| HGNC ID | 6137 |
| Aliases | HsT18964, MSTP059 |
Description
ITGA11 encodes the alpha 11 subunit of integrin receptors, which heterodimerize with beta 1 to form a collagen-binding integrin (α11β1). This receptor is predominantly expressed in mesenchymal cells and plays a critical role in cell-matrix adhesion, collagen remodeling, and mechanotransduction. ITGA11 is involved in tissue development, fibrosis, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic pulmonary fibrosis | Upregulation of ITGA11 in lung fibroblasts promotes collagen contraction and fibrotic remodeling | PMID: 26005868 |
| Osteoarthritis | Increased ITGA11 expression in articular cartilage chondrocytes contributes to matrix degradation | PMID: 24535581 |
| Hepatocellular carcinoma | ITGA11 overexpression enhances tumor cell invasion and metastasis via collagen binding | PMID: 29326435 |
| Colorectal cancer | High ITGA11 expression correlates with poor prognosis and promotes epithelial-mesenchymal transition | PMID: 30120212 |
| Myopathy | Mutations in ITGA11 are associated with congenital myopathy-like phenotypes | PMID: 27616479 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 9.8 | Low |
| Heart | 8.5 | Low |
| Lung | 7.2 | Low |
| Liver | 5.1 | Not detected |
| Kidney | 4.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 12.5 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 3.2 | Low expression |
| MCF7 (breast cancer) | 1.8 | Very low |
| Primary fibroblasts | 25.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Loss of function, associated with myopathy |
| c.1567G>A (p.Asp523Asn) | Missense | Rare | Altered collagen binding, potential pathogenic |
| c.2011A>G (p.Thr671Ala) | Missense | 0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ITGA11 impair integrin-mediated collagen binding, leading to defective cell adhesion and muscle fiber integrity, contributing to myopathy.
Gain of Function (GOF)
Gain-of-function alterations (e.g., overexpression) enhance collagen remodeling and promote fibrosis and tumor invasion.
Dominant Negative (DN)
No dominant-negative mutations reported; however, truncated alpha 11 subunits could potentially interfere with heterodimer formation.
View complete mutation data：
Gene Ontology (GO)
| • collagen binding | • integrin binding |
| • cell adhesion | • extracellular matrix organization |
| • cell-matrix adhesion | • signal transduction |
Pathways
• Integrin signaling pathway
• ECM-receptor interaction
• Focal adhesion
• PI3K-Akt signaling pathway
Protein Summary
Integrin alpha 11 is a 1180-amino acid transmembrane protein that associates with beta 1 integrin to form the α11β1 receptor. It contains an extracellular domain with a von Willebrand factor A domain that binds collagen, a transmembrane domain, and a short cytoplasmic tail. The protein is essential for fibroblast-mediated collagen contraction and plays a role in mechanosensing. Post-translational modifications include glycosylation. Its expression is regulated by TGF-β and other fibrotic stimuli.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGA11 Knockout HEK293 Cell Line | EDJ-KQ808 | Human | 22801 | Details Get a Quote |
| ITGA11 Knockout A-549 Cell Line | EDJ-KQ19547 | Human | 22801 | Details Get a Quote |
| ITGA11 Knockout HeLa Cell Line | EDJ-KQ19548 | Human | 22801 | Details Get a Quote |
| ITGA11 Knockout HCT 116 Cell Line | EDJ-KQ72583 | Human | 22801 | Details Get a Quote |
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