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.

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 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
Displaying Records 1 To 12 Of 12 Records
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