OLR1 (Oxidized Low Density Lipoprotein Receptor 1)
A key scavenger receptor in atherosclerosis, inflammation, and cancer
Gene Information Card
| Symbol | OLR1 |
|---|---|
| Full Name | oxidized low density lipoprotein receptor 1 |
| Gene Type | protein coding |
| Chromosomal Location | 12p13.2 |
| NCBI Gene ID | 4973 ncbi.nlm.nih.gov/gene/4973 |
| Ensembl ID | ENSG00000173391 |
| UniProt ID | P78380 |
| OMIM ID | 602601 |
| HGNC ID | 8133 |
| Aliases | LOX1, LOX-1, CLEC8A, hLOX-1 |
Description
OLR1 encodes the oxidized low-density lipoprotein receptor 1 (LOX-1), a type II membrane glycoprotein belonging to the C-type lectin family. It functions as a scavenger receptor that binds, internalizes, and degrades oxidized low-density lipoproteins (oxLDL). LOX-1 is expressed in endothelial cells, macrophages, smooth muscle cells, and platelets, and plays a critical role in the pathogenesis of atherosclerosis, vascular inflammation, and endothelial dysfunction. Additionally, OLR1 is implicated in cancer progression, immune response, and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | OLR1 mediates uptake of oxLDL in endothelial cells and macrophages, leading to foam cell formation and endothelial dysfunction. | Multiple studies; OMIM 602601; NCBI Gene |
| Coronary artery disease | Polymorphisms in OLR1 are associated with increased risk of myocardial infarction and coronary artery disease. | ClinVar; literature |
| Alzheimer's disease | LOX-1 is involved in amyloid-beta uptake and clearance, potentially contributing to neurodegeneration. | Research articles; UniProt |
| Cancer (e.g., breast, lung) | OLR1 expression is upregulated in various tumors and promotes tumor cell proliferation, migration, and invasion. | COSMIC; literature |
| Hypertension | OLR1 activation contributes to vascular inflammation and endothelial dysfunction, influencing blood pressure regulation. | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Spleen | 8.2 | Low |
| Liver | 5.1 | Low |
| Heart | 4.5 | Low |
| Brain | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.0 | High expression; key in vascular function |
| THP-1 (monocyte/macrophage) | 10.5 | Induced by oxLDL |
| A549 (lung carcinoma) | 8.0 | Moderate; associated with cancer |
| MCF7 (breast carcinoma) | 6.5 | Low but present |
| HEK293 (embryonic kidney) | 2.0 | Low endogenous expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1050286 (3'UTR variant) | SNP | ~30% in some populations | Associated with altered OLR1 expression and increased risk of myocardial infarction |
| rs11053646 (K167N) | Missense | ~5% | May affect ligand binding and receptor function |
| rs3736234 (intronic) | SNP | ~15% | Potential regulatory effect on splicing |
| Somatic mutations in cancer | Various | Rare (<1%) | May contribute to tumor progression |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in OLR1 are rare and may impair oxLDL uptake, potentially reducing foam cell formation but also affecting immune clearance.
Gain of Function (GOF)
Gain-of-function variants could enhance oxLDL binding and internalization, increasing oxidative stress and inflammation.
Dominant Negative (DN)
No clear dominant-negative mutations reported; OLR1 functions as a homodimer, so some missense mutations might interfere with dimerization.
View complete mutation data:
Gene Ontology (GO)
| • oxidized low-density lipoprotein particle binding | • scavenger receptor activity |
| • protein homodimerization activity | • cell surface receptor signaling pathway |
| • inflammatory response | • apoptotic process |
| • response to lipopolysaccharide |
Pathways
• Scavenger receptor pathway
• Atherosclerosis signaling
• NF-kappaB signaling
• MAPK signaling
• Apoptosis signaling
Protein Summary
The OLR1 protein (LOX-1) is a 273-amino acid type II membrane protein with a short cytoplasmic tail, a transmembrane domain, and an extracellular C-type lectin-like domain. It forms homodimers and recognizes multiple ligands, including oxLDL, advanced glycation end products, and apoptotic cells. Upon ligand binding, LOX-1 activates intracellular signaling cascades such as NF-kB and MAPK, leading to pro-inflammatory gene expression, oxidative stress, and endothelial dysfunction. LOX-1 is also cleaved by proteases to generate a soluble form (sLOX-1) that can serve as a biomarker for cardiovascular diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OLR1 Knockout HEK293 Cell Line | EDJ-KQ5382 | Human | 4973 | Details Get a Quote |
| POLR1D Knockout HEK293 Cell Line | EDJ-KQ10905 | Human | 51082 | Details Get a Quote |
| FOLR1 Knockout HEK293 Cell Line | EDJ-KQ17719 | Human | 2348 | Details Get a Quote |
| FOLR1 Knockout HeLa Cell Line | EDJ-KQ18300 | Human | 2348 | Details Get a Quote |
| FOLR1 Knockout HCT 116 Cell Line | EDC10324 | Human | 2348 | Details Get a Quote |
| OLR1 Knockout A-549 Cell Line | EDJ-KQ28520 | Human | 4973 | Details Get a Quote |
| OLR1 Knockout HeLa Cell Line | EDJ-KQ28521 | Human | 4973 | Details Get a Quote |
| POLR1D Knockout A-549 Cell Line | EDJ-KQ38627 | Human | 51082 | Details Get a Quote |
| POLR1D Knockout HCT 116 Cell Line | EDJ-KQ38628 | Human | 51082 | Details Get a Quote |
| POLR1D Knockout HeLa Cell Line | EDJ-KQ38629 | Human | 51082 | Details Get a Quote |
| FOLR1 Knockout A-549 Cell Line | EDJ-KQ61743 | Human | 2348 | Details Get a Quote |
| OLR1 Knockout HCT 116 Cell Line | EDJ-KQ71001 | Human | 4973 | Details Get a Quote |
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