Entrez Summary: This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
blood vessel endothelial cell differentiation
venous blood vessel morphogenesis
endothelial tube morphogenesis
morphogenesis of an endothelium
venous blood vessel development
pericardium development
endothelial cell development
vasculogenesis
endothelial cell differentiation
multicellular organism growth
integrin-mediated signaling pathway
endothelium development
stress-activated MAPK cascade
cell-cell junction organization
stress-activated protein kinase signaling cascade
epithelial cell development
inner ear development
cell junction organization
ear development
epithelial tube morphogenesis
MAPK cascade
in utero embryonic development
developmental growth
growth
signal transduction by protein phosphorylation
blood vessel morphogenesis
morphogenesis of an epithelium
blood vessel development
vasculature development
cardiovascular system development
heart development
sensory organ development
tissue morphogenesis
protein-containing complex
chordate embryonic development
embryo development ending in birth or egg hatching
tube morphogenesis
epithelial cell differentiation
tube development
circulatory system development
protein phosphorylation
embryo development
epithelium development
mitochondrion
phosphorylation
cell development
intracellular signal transduction
cellular response to stress
tissue development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)