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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY, GENETIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY, HEREDITARY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Cerebrovascular Accidents Stroke BEFREE 30639239
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome LHGDN 16061745
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 18092947, 20136518, 30639239, 31571264, 31708514
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 25170920
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31562393
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 12807963 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 12384789, 15860461, 29951494
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 27519944 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 27519944
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 11507327, 12163130, 12238639, 15001526, 15309203, 15727724, 15976314, 16251892, 17022953, 18191942, 19782984, 19801851, 19929426, 20136518, 20385360
View all (37 more)
★☆☆☆☆
Found in Text Mining only