OSBPL5 (Oxysterol Binding Protein Like 5)
A member of the oxysterol-binding protein family involved in lipid transport and signaling
Gene Information Card
| Symbol | OSBPL5 |
|---|---|
| Full Name | Oxysterol Binding Protein Like 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 114879 ncbi.nlm.nih.gov/gene/114879 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q9H0P0 |
| OMIM ID | 606734 |
| HGNC ID | 16398 |
| Aliases | ORP5, OBPH1, OSBP5, OSBPL5 |
Description
OSBPL5 (Oxysterol Binding Protein Like 5) encodes a member of the oxysterol-binding protein (OSBP) family, which are intracellular lipid receptors involved in sterol transport, lipid metabolism, and cell signaling. The protein contains an N-terminal pleckstrin homology (PH) domain and a C-terminal OSBP-related ligand-binding domain (ORD). It localizes to the endoplasmic reticulum and plasma membrane contact sites, mediating phosphatidylserine and cholesterol exchange. OSBPL5 is widely expressed and has been implicated in cellular lipid homeostasis and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered lipid transport and signaling; OSBPL5 overexpression may promote cell proliferation | COSMIC database reports somatic mutations in multiple cancer types |
| Hypercholesterolemia (potential) | Dysregulation of cholesterol transport via OSBPL5 | Inferred from functional studies (UniProt) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 15.2 | Medium |
| Lung | 10.1 | Medium |
| Pancreas | 9.8 | Low |
| Spleen | 7.6 | Low |
| Testis | 18.4 | Medium |
| Thyroid | 11.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK 293 | 12.3 | Embryonic kidney cells |
| HepG2 | 16.1 | Hepatocellular carcinoma |
| A549 | 9.7 | Lung carcinoma |
| MCF7 | 11.8 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.567C>T (p.Pro189Leu) | Missense | <0.1% | Reported in COSMIC; potential impact on lipid binding |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • lipid transport | • cholesterol binding |
| • oxysterol binding | • phosphatidylserine binding |
| • endoplasmic reticulum-plasma membrane contact site | • lipid homeostasis |
Pathways
• Oxysterol binding protein family pathway
• Lipid transport at membrane contact sites
Protein Summary
OSBPL5 (ORP5) is a 901-amino acid protein that localizes to endoplasmic reticulum-plasma membrane contact sites. It contains an N-terminal PH domain that binds phosphoinositides and a C-terminal ORD domain that binds oxysterols and cholesterol. The protein mediates non-vesicular transport of phosphatidylserine and cholesterol between membranes, playing a role in lipid homeostasis and cell signaling. OSBPL5 is ubiquitously expressed with highest levels in testis and adipose tissue.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSBPL5 Knockout HEK293 Cell Line | EDJ-KQ2769 | Human | 114879 | Details Get a Quote |
| OSBPL5 Knockout HCT 116 Cell Line | EDJ-KQ22307 | Human | 114879 | Details Get a Quote |
| OSBPL5 Knockout A-549 Cell Line | EDJ-KQ23677 | Human | 114879 | Details Get a Quote |
| OSBPL5 Knockout HeLa Cell Line | EDJ-KQ23679 | Human | 114879 | Details Get a Quote |
