Aliases for OSBPL3 Gene
External Ids for OSBPL3 Gene
Previous HGNC Symbols for OSBPL3 Gene
Previous GeneCards Identifiers for OSBPL3 Gene
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
GeneCards Summary for OSBPL3 Gene
OSBPL3 (Oxysterol Binding Protein Like 3) is a Protein Coding gene. Diseases associated with OSBPL3 include Simpson-Golabi-Behmel Syndrome. GO annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBPL6.
UniProtKB/Swiss-Prot for OSBPL3 Gene
Phosphoinositide-binding protein which associates with both cell and endoplasmic reticulum (ER) membranes (PubMed:16143324). Can bind to the ER membrane protein VAPA and recruit VAPA to plasma membrane sites, thus linking these intracellular compartments (PubMed:25447204). The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface (PubMed:18270267, PubMed:25447204). With VAPA, may regulate ER morphology (PubMed:16143324). Has a role in regulation of the actin cytoskeleton, cell polarity and cell adhesion (PubMed:18270267). Binds to phosphoinositides with preference for PI(3,4)P2 and PI(3,4,5)P3 (PubMed:16143324). Also binds 25-hydroxycholesterol and cholesterol (PubMed:17428193).