DISEASES

Disease-gene associations mined from literature

Literature on OSBPL3

OSBPL3 [ENSP00000315410]

Oxysterol-binding protein-related protein 3; Phosphoinositide-binding protein which associates with both cell and endoplasmic reticulum (ER) membranes . Can bind to the ER membrane protein VAPA and recruit VAPA to plasma membrane sites, thus linking these intracellular compartments . The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface . With VAPA, may regulate ER morphology . Has a role in regulation of the actin cytoskeleton, cell polarity and cell adhesion . Binds to phosphoinositides with preference for PI(3,4)P2 and PI(3,4,5)P3 . Also binds 25-hydroxycholesterol and cholesterol . ECO:0000269|PubMed:17428193, ECO:0000269|PubMed:18270267,; Belongs to the OSBP family.

Synonyms:  OSBPL3,  OSBPL3p,  hOSBPL3,  C9J8P4,  C9JEF2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM