OSBPL10
Oxysterol Binding Protein Like 10
Gene Information Card
| Symbol | OSBPL10 |
|---|---|
| Full Name | Oxysterol Binding Protein Like 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p22.3 |
| NCBI Gene ID | 114884 ncbi.nlm.nih.gov/gene/114884 |
| Ensembl ID | ENSG00000144668 |
| UniProt ID | Q9BXB5 |
| OMIM ID | 609771 |
| HGNC ID | 16395 |
| Aliases | ORP10, OSBP9, OSBPL9, FLJ20254 |
Description
OSBPL10 encodes a member of the oxysterol-binding protein (OSBP) family, which are involved in lipid transport, sterol metabolism, and cellular signaling. The protein contains a pleckstrin homology (PH) domain and an OSBP-related ligand-binding domain, and it localizes to the Golgi apparatus and endoplasmic reticulum. OSBPL10 may play a role in cholesterol homeostasis and has been implicated in cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may affect lipid signaling and cell proliferation | COSMIC, NCBI Gene |
| Prostate cancer | Potential role in androgen receptor signaling and lipid metabolism | COSMIC, NCBI Gene |
| Colorectal cancer | Dysregulation of sterol transport may promote tumorigenesis | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Adipose tissue | 6.5 | Medium |
| Brain | 4.1 | Low |
| Kidney | 5.3 | Medium |
| Testis | 7.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 9.1 | Hepatocellular carcinoma cell line |
| MCF7 | 6.8 | Breast cancer cell line |
| PC3 | 5.4 | Prostate cancer cell line |
| HeLa | 4.7 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.567_568insA (p.Glu190fs) | Frameshift | Rare | Predicted loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.01% (gnomAD) | Possibly benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu190fs) likely cause loss of protein function.
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 | • sterol binding |
| • Golgi apparatus | • endoplasmic reticulum |
| • phospholipid binding |
Pathways
• Oxysterol binding protein pathway
• Cholesterol metabolism
Protein Summary
OSBPL10 (ORP10) is a 764-amino acid protein containing an N-terminal PH domain and a C-terminal OSBP-related ligand-binding domain. It localizes to the Golgi and ER, where it facilitates sterol transport and may regulate lipid homeostasis. The protein interacts with phosphatidylinositol phosphates and oxysterols, influencing membrane trafficking and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSBPL10 Knockout HEK293 Cell Line | EDJ-KQ7483 | Human | 114884 | Details Get a Quote |
| OSBPL10 Knockout A-549 Cell Line | EDJ-KQ32719 | Human | 114884 | Details Get a Quote |
| OSBPL10 Knockout HCT 116 Cell Line | EDJ-KQ32720 | Human | 114884 | Details Get a Quote |
| OSBPL10 Knockout HeLa Cell Line | EDJ-KQ32721 | Human | 114884 | Details Get a Quote |
