SPRED1

The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]

Full Name

Sprouty Related EVH1 Domain Containing 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).

Biological Process

Biological Process negative regulation of angiogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process negative regulation of cell migration involved in sprouting angiogenesisIEA:Ensembl
Biological Process negative regulation of epithelial to mesenchymal transitionISS:UniProtKB
Biological Process negative regulation of ERK1 and ERK2 cascadeISS:UniProtKB
Biological Process negative regulation of lens fiber cell differentiationISS:UniProtKB
Biological Process negative regulation of MAPK cascadeManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process negative regulation of peptidyl-threonine phosphorylationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process negative regulation of protein kinase activityManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process negative regulation of transforming growth factor beta receptor signaling pathwayISS:UniProtKB
Biological Process positive regulation of DNA damage response, signal transduction by p53 class mediatorBy SimilarityISS:BHF-UCL
Biological Process regulation of MAPK cascadeManual Assertion Based On ExperimentTAS:ARUK-UCL
Biological Process regulation of protein deacetylationBy SimilarityISS:BHF-UCL
Biological Process vasculogenesis involved in coronary vascular morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL

Cellular Location

Cell membrane
Membrane, caveola
Nucleus
Localized in cholesterol-rich membrane raft/caveola fractions.

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.

PTM

Palmitoylated by ZDHHC17/HIP14.
Phosphorylated on tyrosine.
Ubiquitinated.