TIE1
Function
Transmembrane tyrosine-protein kinase that may modulate TEK/TIE2 activity and contribute to the regulation of angiogenesis.
Involvement in disease
Lymphatic malformation 11
LMPHM11
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM11 is an autosomal dominant form characterized by onset of lower extremity edema in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated on tyrosine residues in response to ANGPT1, most likely by TEK/TIE2.
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. Tie subfamily.
Tissue Specificity
Specifically expressed in developing vascular endothelial cells.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
Alternative names
TIE, TIE1, Tyrosine-protein kinase receptor Tie-1