OSBPL3 (Oxysterol Binding Protein Like 3)
A lipid-binding protein implicated in intracellular sterol transport and cancer signaling
Gene Information Card
| Symbol | OSBPL3 |
|---|---|
| Full Name | Oxysterol Binding Protein Like 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p15.3 |
| NCBI Gene ID | 26031 ncbi.nlm.nih.gov/gene/26031 |
| Ensembl ID | ENSG00000105971 |
| UniProt ID | Q9H4L5 |
| OMIM ID | 606737 |
| HGNC ID | 16363 |
| Aliases | ORP3, OSBP3, FLJ11129 |
Description
OSBPL3 encodes a member of the oxysterol-binding protein (OSBP) family, which functions in intracellular lipid transport and sterol homeostasis. The protein contains an N-terminal pleckstrin homology (PH) domain and a C-terminal OSBP-related ligand-binding domain (ORD). OSBPL3 is involved in vesicle trafficking, cell signaling, and has been implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered OSBPL3 expression affects cell proliferation and migration via PI3K/Akt signaling | PMID: 23431129, COSMIC |
| Colorectal cancer | Overexpression linked to poor prognosis and metastasis | PMID: 23431129 |
| Breast cancer | Upregulation associated with invasive phenotype | PMID: 23431129 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Lung | 10.2 | Medium |
| Breast | 8.9 | Medium |
| Colon | 7.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.3 | High expression |
| A549 (lung cancer) | 12.1 | Moderate expression |
| HCT116 (colorectal cancer) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | missense | <0.1% (COSMIC) | Unknown functional effect |
| c.567_568insC | frameshift | <0.1% (COSMIC) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated protein and loss of lipid-binding function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • lipid transport | • sterol binding |
| • intracellular protein transport | • phosphatidylinositol binding |
| • Golgi apparatus | • cytoplasm |
Pathways
• Oxysterol binding protein family pathway
• Lipid transport and metabolism
Protein Summary
OSBPL3 (ORP3) is a 873-amino acid protein with a PH domain for membrane targeting and an ORD domain for oxysterol binding. It localizes to the Golgi and endosomes, facilitating sterol transfer and signaling. Overexpression in cancers suggests a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSBPL3 Knockout HEK293 Cell Line | EDJ-KQ8360 | Human | 26031 | Details Get a Quote |
| OSBPL3 Knockout HeLa Cell Line | EDJ-KQ33059 | Human | 26031 | Details Get a Quote |
| OSBPL3 Knockout A-549 Cell Line | EDJ-KQ34396 | Human | 26031 | Details Get a Quote |
| OSBPL3 Knockout HCT 116 Cell Line | EDJ-KQ34397 | Human | 26031 | Details Get a Quote |
