Sprouty-related, EVH1 domain-containing protein 1
Function
Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase (By similarity). Negatively regulates hematopoiesis of bone marrow (By similarity). Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (By similarity). Attenuates actin stress fiber formation via inhibition of TESK1-mediated phosphorylation of cofilin (PubMed:18216281). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (By similarity).
Involvement in disease
Legius syndrome
LGSS
An autosomal dominant syndrome characterized mainly by cafe-au-lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1, axillary freckling, and macrocephaly. Additional clinical manifestations include Noonan-like facial dysmorphism, lipomas, learning disabilities, and features of attention deficit-hyperactivity disorder.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Palmitoylated by ZDHHC17/HIP14.
Phosphorylated on tyrosine.
Ubiquitinated.
Tissue Specificity
Weakly expressed in embryonic cell line HEK293.
Cellular localization
- Cell membrane
- Peripheral membrane protein
- Membrane
- Caveola
- Peripheral membrane protein
- Nucleus
- Localized in cholesterol-rich membrane raft/caveola fractions.
Alternative names
Spred-1, hSpred1, SPRED1