ITGA3
Function
Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration.
(Microbial infection) Integrin ITGA3:ITGB1 may act as a receptor for R.delemar CotH7 in alveolar epithelial cells, which may be an early step in pulmonary mucormycosis disease progression.
Involvement in disease
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
JEB7
A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB7 is an autosomal recessive form associated with congenital nephrotic syndrome and interstitial lung disease. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Isoform 1, but not isoform 2, is phosphorylated on serine residues. Phosphorylation increases after phorbol 12-myristate 13-acetate stimulation.
Sequence Similarities
Belongs to the integrin alpha chain family.
Tissue Specificity
Isoform 1 is widely expressed. Isoform 2 is expressed in brain and heart. In brain, both isoforms are exclusively expressed on vascular smooth muscle cells, whereas in heart isoform 1 is strongly expressed on vascular smooth muscle cells, isoform 2 is detected only on endothelial vein cells.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cell membrane
- Lipid-anchor
- Cell projection
- Invadopodium membrane
- Single-pass type I membrane protein
- Cell projection
- Filopodium membrane
- Single-pass type I membrane protein
- Enriched preferentially at invadopodia, cell membrane protrusions that correspond to sites of cell invasion, in a collagen-dependent manner.
Alternative names
CD49c, MSK18, ITGA3, Integrin alpha-3, CD49 antigen-like family member C, FRP-2, Galactoprotein B3, VLA-3 subunit alpha, GAPB3