OSBPL1A Gene: Oxysterol Binding Protein Like 1A
A comprehensive biomedical overview of OSBPL1A, including gene structure, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | OSBPL1A |
|---|---|
| Full Name | oxysterol binding protein like 1A |
| Gene Type | protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 114876 ncbi.nlm.nih.gov/gene/114876 |
| Ensembl ID | ENSG00000141480 |
| UniProt ID | Q9BXW6 |
| OMIM ID | 606730 |
| HGNC ID | 16397 |
| Aliases | ORP-1, OSBPL1, FLJ90013 |
Description
OSBPL1A encodes a member of the oxysterol-binding protein (OSBP) family, which are involved in lipid transport and sterol metabolism. The protein contains an N-terminal pleckstrin homology (PH) domain and a C-terminal oxysterol-binding domain. It is thought to play a role in intracellular lipid trafficking and signaling. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence in OMIM or ClinVar for disease-causing mutations. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | Not available | Low expression |
| Liver | Not available | Moderate expression |
| Kidney | Not available | Low expression |
| Testis | Not available | High expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | Not available | Moderate expression |
| A549 | Not available | Low expression |
| MCF7 | Not available | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No common variants | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations in disease.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • lipid transport | • oxysterol binding |
| • phosphatidylinositol binding | • Golgi apparatus |
| • endosome | • plasma membrane |
Pathways
• Lipid transport and metabolism
• Oxysterol signaling
Protein Summary
OSBPL1A is a 110 kDa protein that localizes to the Golgi and endosomes. It binds oxysterols and phosphoinositides, participating in lipid transport and sterol sensing. The protein may regulate vesicular trafficking and cell signaling. Its expression is highest in testis and brain, suggesting roles in steroidogenesis and neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSBPL1A Knockout HEK293 Cell Line | EDC90446 | Human | 114876 | Details Get a Quote |
| OSBPL1A Knockout A-549 Cell Line | EDJ-KQ32712 | Human | 114876 | Details Get a Quote |
| OSBPL1A Knockout HCT 116 Cell Line | EDJ-KQ32713 | Human | 114876 | Details Get a Quote |
| OSBPL1A Knockout HeLa Cell Line | EDJ-KQ32714 | Human | 114876 | Details Get a Quote |
