- OSBP-Related Protein 5 3 4
- ORP-5 3 4
- Oxysterol Binding Protein Homologue 1 2
- Oxysterol-Binding Protein Homologue 1 3
- Oxysterol Binding Protein-Like 5 2
- EC 2.7.7.6 47
- EC 1.2.1 47
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
GeneCards Summary for OSBPL5 Gene
OSBPL5 (Oxysterol Binding Protein Like 5) is a Protein Coding gene. Diseases associated with OSBPL5 include Lenz-Majewski Hyperostotic Dwarfism and Peeling Skin Syndrome. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include cholesterol binding and oxysterol binding. An important paralog of this gene is OSBPL8.
UniProtKB/Swiss-Prot Summary for OSBPL5 Gene
Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:23934110, 26206935). May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes (PubMed:21220512). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193). ( OSBL5_HUMAN,Q9H0X9 )
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