OSBPL3
Description
The OSBPL3 (oxysterol binding protein like 3) is a protein-coding gene located on chromosome 7.
OSBPL3 is a human gene that encodes a protein belonging to the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members of this family contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms of OSBPL3 have been identified.
OSBPL3 is a phosphoinositide-binding protein that associates with both cell and endoplasmic reticulum (ER) membranes. It can bind to the ER membrane protein VAPA and recruit VAPA to plasma membrane sites, linking these intracellular compartments. The OSBPL3-VAPA complex stimulates RRAS signaling, which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface. With VAPA, OSBPL3 may regulate ER morphology. OSBPL3 plays a role in regulating the actin cytoskeleton, cell polarity, and cell adhesion. It binds to phosphoinositides, with a preference for PI(3,4)P2 and PI(3,4,5)P3. OSBPL3 also binds 25-hydroxycholesterol and cholesterol.
OSBPL3 is also known as ORP-3, ORP3, OSBP3.
Associated Diseases
- bipolar disorder
- cancer
- schizophrenia
- anorexia nervosa
- breast cancer
- melorheostosis
- urinary bladder carcinoma
- melorheostosis with osteopoikilosis
- dacryocystitis-osteopoikilosis syndrome
