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, Type 1 and Simpson-Golabi-Behmel Syndrome. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. 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).