OSBPL11
Oxysterol Binding Protein Like 11
Gene Information Card
| Symbol | OSBPL11 |
|---|---|
| Full Name | Oxysterol Binding Protein Like 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q21.1 |
| NCBI Gene ID | 114884 ncbi.nlm.nih.gov/gene/114884 |
| Ensembl ID | ENSG00000144895 |
| UniProt ID | Q9BXB4 |
| OMIM ID | 606739 |
| HGNC ID | 16395 |
| Aliases | ORP11, OSBP-related protein 11, FLJ20202 |
Description
OSBPL11 encodes a member of the oxysterol-binding protein (OSBP) family, which are involved in lipid transport and sterol homeostasis. The protein contains a pleckstrin homology (PH) domain and an OSBP-related ligand-binding domain, and localizes to the Golgi apparatus and endoplasmic reticulum. It may play a role in cellular lipid metabolism and vesicle transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered expression; potential role in lipid metabolism dysregulation | COSMIC; NCBI Gene |
| Colorectal cancer | Somatic mutations observed; functional impact unclear | COSMIC |
| Breast cancer | Copy number alterations reported; expression changes | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Brain | 6.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HEK293 | 6.5 | Embryonic kidney cell line |
| A549 | 8.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015G>A (p.Gly339Arg) | Missense | <0.1% | Unknown; not reported in ClinVar |
| c.1243C>T (p.Arg415Trp) | Missense | <0.1% | Unknown; not reported in ClinVar |
| c.1462_1463del (p.Leu488fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu488fs) likely result in truncated protein and loss of lipid-binding function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • lipid transport | • sterol binding |
| • Golgi apparatus | • endoplasmic reticulum |
| • pleckstrin homology domain binding |
Pathways
• Oxysterol binding protein family pathway
• Lipid transport and metabolism
Protein Summary
OSBPL11 (ORP11) is a 747-amino acid protein with a PH domain and an OSBP-related ligand-binding domain. It localizes to the Golgi and ER, and is implicated in sterol transport and lipid homeostasis. Expression is moderate in liver and low in most other tissues. Somatic mutations are rare in cancer, and no germline disease associations are established.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSBPL11 Knockout HEK293 Cell Line | EDJ-KQ2508 | Human | 114885 | Details Get a Quote |
| OSBPL11 Knockout A-549 Cell Line | EDJ-KQ23108 | Human | 114885 | Details Get a Quote |
| OSBPL11 Knockout HCT 116 Cell Line | EDJ-KQ23109 | Human | 114885 | Details Get a Quote |
| OSBPL11 Knockout HeLa Cell Line | EDJ-KQ23110 | Human | 114885 | Details Get a Quote |
