Gene Gene information from NCBI Gene database.
Entrez ID 4973
Gene name Oxidized low density lipoprotein receptor 1
Gene symbol OLR1
Synonyms (NCBI Gene)
CLEC8ALOX1LOXINSCARE1SLOX1
Chromosome 12
Chromosome location 12p13.2
Summary This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. Thi
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs11053646 C>G Risk-factor Missense variant, coding sequence variant, intron variant
rs12316150 A>T Risk-factor 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
263
miRTarBase ID miRNA Experiments Reference
MIRT020773 hsa-miR-155-5p Western blot 21030878
MIRT027749 hsa-miR-98-5p Microarray 19088304
MIRT031012 hsa-miR-21-5p Microarray 18591254
MIRT708497 hsa-miR-4797-5p HITS-CLIP 19536157
MIRT708496 hsa-miR-5586-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
HR Activation 20881612
NFKB1 Unknown 15001526
RELA Unknown 15001526
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005041 Function Low-density lipoprotein particle receptor activity IBA
GO:0005515 Function Protein binding IPI 24846140, 28514442, 33961781
GO:0005576 Component Extracellular region IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602601 8133 ENSG00000173391
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P78380
Protein name Oxidized low-density lipoprotein receptor 1 (Ox-LDL receptor 1) (C-type lectin domain family 8 member A) (Lectin-like oxidized LDL receptor 1) (LOX-1) (Lectin-like oxLDL receptor 1) (hLOX-1) (Lectin-type oxidized LDL receptor 1) [Cleaved into: Oxidized lo
Protein function Receptor that mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. OxLDL is a marker of atherosclerosis that induces vascular endothelial cell activation
PDB 1YPO , 1YPQ , 1YPU , 1YXJ , 1YXK , 3VLG , 6TL7 , 6TL9 , 6TLA , 7R8U , 7W5D , 7XMP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08391 Ly49 32 158 Ly49-like protein, N-terminal region Family
PF00059 Lectin_C 161 266 Lectin C-type domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at high level in endothelial cells and vascular-rich organs such as placenta, lung, liver and brain, aortic intima, bone marrow, spinal cord and substantia nigra. Also expressed at the surface of dendritic cells. Widely expre
Sequence
Sequence length 273
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  PPAR signaling pathway
Phagosome
Lipid and atherosclerosis
  Cell surface interactions at the vascular wall
Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Myocardial infarction, susceptibility to Benign; risk factor rs11053646, rs12316150 RCV001799590
RCV001799591
OLR1-related disorder Benign; risk factor; Likely benign rs11053646, rs146768121, rs184465084, rs375085053 RCV003974804
RCV003938917
RCV003909310
RCV003946830
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Associate 15562935
Alzheimer Disease Associate 12807963
Anemia Sickle Cell Associate 27519944
Arthritis Rheumatoid Associate 15529384
Arthritis Rheumatoid Stimulate 24000379
Asthma Associate 25335167
Atherosclerosis Associate 10085242, 11728449, 15001526, 15010359, 15562935, 16173915, 16698017, 17420607, 18384690, 18390905, 18469066, 19667111, 20181930, 20385360, 20508287
View all (22 more)
Atrial Fibrillation Associate 18375832
Brain Ischemia Associate 31943892
Breast Neoplasms Stimulate 30718451