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OLR1 - ENSG00000173391

oxidized low density lipoprotein receptor 1

Also known as: LOX-1, SCARE1, CLEC8A

Location: chr12:10,310,902-10,324,737 reverse strand

Gene Type: protein coding

More information
NCBI Gene
4973
HUGO
HGNC:8133
Ensembl
ENSG00000173391
VEGA
OTTHUMG00000168527
OMIM
602601
UniProtKB
P78380

Genomic Context

The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.

To add tracks, use the provided link to switch to the full genome browser view.

Gene-based Trait Associations

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ADSP WES: Alzheimer's Disease ADSP

Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.

Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.

See NIAGADS Accession NG00065 for more information.

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Accession Population N SNPs p-value Sign. Level rho CMAF CMAC Covariates Variant Filter Caveats
NG00065 European 1 0.107 N/A 0 9.6e-05 2.0 PCs and sequencing center LOF
NG00065 European 1 0.107 N/A 0 9.6e-05 2.0 PCs and sequencing center VEP HIGH
NG00065 European 17 0.325 N/A 0 1.9e-03 39.2 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Meta 20 0.340 N/A 0 2.0e-03 43.3 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 European 17 0.395 N/A 0 1.9e-03 39.2 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 Meta 20 0.406 N/A 0 2.0e-03 43.3 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 1 0.448 N/A 0 9.6e-05 2.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF
NG00065 European 1 0.448 N/A 0 9.6e-05 2.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH
NG00065 Caribbean Hispanic 4 0.467 N/A 0 5.1e-03 4.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH
NG00065 Caribbean Hispanic 4 0.469 N/A 0 5.1e-03 4.0 PCs and sequencing center VEP MOD-HIGH
NG00065 Caribbean Hispanic 4 0.482 N/A 0 5.1e-03 4.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH
NG00065 European 1 0.485 N/A 0 9.6e-05 2.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH
NG00065 European 1 0.485 N/A 0 9.6e-05 2.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF
NG00065 Meta 20 0.927 N/A 1 2.0e-03 43.3 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 17 0.950 N/A 0 1.9e-03 39.2 PCs and sequencing center VEP MOD-HIGH N/A

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the OLR1 gene.

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The OLR1 gene contains 962 variants records (corresponding to 903 unique genomic positions).

The following variants, contained within ±100kb of OLR1, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of OLR1 that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of OLR1 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of OLR1, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of OLR1 that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)

Variants contained within ±100kb of OLR1 that are associated with a trait in the NHGRI GWAS Catalog.

Functional Genomics

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Explore all functional genomics annotations within the region of the OLR1 gene (chr12:10310902-10324737)

Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)

ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.

Functional Annotation

Gene Ontology

Functional annotations were obtained from UniProt-GOA gene association files.

Click on a term accession number to view term details at the Gene Ontology Consortium.

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Ontology GO Accession Term Evidence Code
BP GO:0008015 blood circulation TAS
BP GO:0007155 cell adhesion IEA
BP GO:0002376 immune system process IEA
BP GO:0006954 inflammatory response IEA
BP GO:0050900 leukocyte migration TAS
BP GO:0043312 neutrophil degranulation TAS
BP GO:0006508 proteolysis TAS
BP GO:0006898 receptor-mediated endocytosis IEA
CC GO:0070062 extracellular exosome IDA
CC GO:0005576 extracellular region IEA
CC GO:0016021 integral component of membrane IEA
CC GO:0005887 integral component of plasma membrane TAS
CC GO:0043231 intracellular membrane-bounded organelle IDA
CC GO:0016020 membrane IEA,TAS
CC GO:0045121 membrane raft IEA
CC GO:0005654 nucleoplasm IDA
CC GO:0005886 plasma membrane IEA,IDA,TAS
CC GO:0043235 receptor complex IDA
CC GO:0035579 specific granule membrane TAS
CC GO:0070821 tertiary granule membrane TAS
MF GO:0030246 carbohydrate binding IEA
MF GO:0005041 low-density lipoprotein receptor activity IEA
MF GO:0005515 protein binding IPI

KEGG Pathways

Click on a pathway accession number to view term details at KEGG.

Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.

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Pathway KEGG Accession Graph
Phagosome hsa04145
PPAR signaling pathway hsa03320