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Aliases for OLR1 Gene

Aliases for OLR1 Gene

  • Oxidized Low Density Lipoprotein Receptor 1 2 3 5
  • C-Type Lectin Domain Family 8 Member A 3 4
  • Lectin-Type Oxidized LDL Receptor 1 3 4
  • CLEC8A 3 4
  • HLOX-1 3 4
  • LOX1 3 4
  • Oxidized Low Density Lipoprotein (Lectin-Like) Receptor 1 3
  • Oxidized Low-Density Lipoprotein Receptor 1, Soluble Form 3
  • Oxidised Low Density Lipoprotein (Lectin-Like) Receptor 1 2
  • Oxidized Low-Density Lipoprotein Receptor 1 3
  • Scavenger Receptor Class E, Member 1 3
  • Lectin-Like Oxidized LDL Receptor 1 4
  • Lectin-Like OxLDL Receptor 1 4
  • Ox LDL Receptor 1 3
  • Ox-LDL Receptor 1 4
  • SCARE1 3
  • LOXIN 3
  • SLOX1 3
  • LOX-1 4

External Ids for OLR1 Gene

Previous GeneCards Identifiers for OLR1 Gene

  • GC12M009993
  • GC12M010433
  • GC12M010211
  • GC12M010202
  • GC12M010310
  • GC12M010054
  • GC12M010355
  • GC12M010619
  • GC12M010772
  • GC12M011011
  • GC12M011299
  • GC12M011533
  • GC12M011726
  • GC12M011913

Summaries for OLR1 Gene

Entrez Gene Summary for OLR1 Gene

  • 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. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

GeneCards Summary for OLR1 Gene

OLR1 (Oxidized Low Density Lipoprotein Receptor 1) is a Protein Coding gene. Diseases associated with OLR1 include Myocardial Infarction and Syndromic X-Linked Intellectual Disability Snyder Type. Among its related pathways are Phagosome and Cell surface interactions at the vascular wall. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and low-density lipoprotein particle receptor activity. An important paralog of this gene is CLEC7A.

UniProtKB/Swiss-Prot for OLR1 Gene

  • 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 and dysfunction, resulting in pro-inflammatory responses, pro-oxidative conditions and apoptosis. Its association with oxLDL induces the activation of NF-kappa-B through an increased production of intracellular reactive oxygen and a variety of pro-atherogenic cellular responses including a reduction of nitric oxide (NO) release, monocyte adhesion and apoptosis. In addition to binding oxLDL, it acts as a receptor for the HSP70 protein involved in antigen cross-presentation to naive T-cells in dendritic cells, thereby participating in cell-mediated antigen cross-presentation. Also involved in inflammatory process, by acting as a leukocyte-adhesion molecule at the vascular interface in endotoxin-induced inflammation. Also acts as a receptor for advanced glycation end (AGE) products, activated platelets, monocytes, apoptotic cells and both Gram-negative and Gram-positive bacteria.

Gene Wiki entry for OLR1 Gene

Additional gene information for OLR1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OLR1 Gene

Genomics for OLR1 Gene

GeneHancer (GH) Regulatory Elements for OLR1 Gene

Promoters and enhancers for OLR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J010168 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 658.2 +5.6 5597 3.5 JUN MAX CEBPB EP300 BRCA1 SP1 JUND GATA3 POLR2A STAT3 OLR1 TMEM52B GABARAPL1 ENSG00000255958 CLEC7A
GH12J010174 Enhancer 0.4 ENCODE 650.7 +0.2 192 2.4 CTCF HLF RAD21 OLR1 ENSG00000255958 GABARAPL1 TMEM52B
GH12J009970 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 35.7 +203.8 203760 4.2 POLR2A REST CLEC12A OLR1 CLEC12B CLEC7A CLEC1B GABARAPL1 CLEC2B CLEC12A-AS1
GH12J009942 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 41.2 +232.6 232562 2.2 SP2 GABPA ZSCAN21 HIC1 ZNF366 GLIS1 PATZ1 ZNF629 PRDM10 ZNF600 LINC02470 OLR1 CLEC12A CLEC7A CLEC1B GABARAPL1 CD69
GH12J010183 Enhancer 0.9 FANTOM5 Ensembl ENCODE 36.2 -9.3 -9303 3.7 POLR2A CEBPB REST FOS EP300 OLR1 CLEC12A CLEC7A GABARAPL1 TMEM52B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OLR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OLR1 gene promoter:

Genomic Locations for OLR1 Gene

Genomic Locations for OLR1 Gene
chr12:10,158,300-10,176,261
(GRCh38/hg38)
Size:
17,962 bases
Orientation:
Minus strand
chr12:10,310,899-10,324,790
(GRCh37/hg19)

Genomic View for OLR1 Gene

Genes around OLR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OLR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OLR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OLR1 Gene

Proteins for OLR1 Gene

  • Protein details for OLR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78380-OLR1_HUMAN
    Recommended name:
    Oxidized low-density lipoprotein receptor 1
    Protein Accession:
    P78380
    Secondary Accessions:
    • A8K7V9
    • B4DI48
    • G3V1I4
    • Q2PP00
    • Q7Z484

    Protein attributes for OLR1 Gene

    Size:
    273 amino acids
    Molecular mass:
    30959 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. May form a hexamer composed of 3 homodimers. Interacts with HSP70.

    Three dimensional structures from OCA and Proteopedia for OLR1 Gene

    Alternative splice isoforms for OLR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OLR1 Gene

Post-translational modifications for OLR1 Gene

No data available for DME Specific Peptides for OLR1 Gene

Domains & Families for OLR1 Gene

Gene Families for OLR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for OLR1 Gene

Graphical View of Domain Structure for InterPro Entry

P78380

UniProtKB/Swiss-Prot:

OLR1_HUMAN :
  • The cytoplasmic region is required for subcellular sorting on the cell surface.
Domain:
  • The cytoplasmic region is required for subcellular sorting on the cell surface.
  • The C-type lectin domain mediates the recognition and binding of oxLDL.
genes like me logo Genes that share domains with OLR1: view

Function for OLR1 Gene

Molecular function for OLR1 Gene

UniProtKB/Swiss-Prot 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 and dysfunction, resulting in pro-inflammatory responses, pro-oxidative conditions and apoptosis. Its association with oxLDL induces the activation of NF-kappa-B through an increased production of intracellular reactive oxygen and a variety of pro-atherogenic cellular responses including a reduction of nitric oxide (NO) release, monocyte adhesion and apoptosis. In addition to binding oxLDL, it acts as a receptor for the HSP70 protein involved in antigen cross-presentation to naive T-cells in dendritic cells, thereby participating in cell-mediated antigen cross-presentation. Also involved in inflammatory process, by acting as a leukocyte-adhesion molecule at the vascular interface in endotoxin-induced inflammation. Also acts as a receptor for advanced glycation end (AGE) products, activated platelets, monocytes, apoptotic cells and both Gram-negative and Gram-positive bacteria.
UniProtKB/Swiss-Prot Induction:
By inflammatory cytokines such as TNF, IFNG/IFN-gamma, IL6/interleukin-6 and by pathological conditions such as hyperlipidemia, hypertension and diabetes mellitus. Up-regulated in atherosclerotic lesions, by oxLDL, reactive oxygen species and fluid shear stress, suggesting that it may participate in amplification of oxLDL-induced vascular dysfunction.
GENATLAS Biochemistry:
oxidized low density lipoprotein receptor 1lectin-like,in the NK (natural killer) complex, taken up by vascular endothelium,most abundant in placenta,also expressed in lung,bone marrow,central nervous system,aorta,testis and kidney,also expressed in macrophages,but not in vascular smooth muscle cells,involved in endothelial dysfunction and atherosclerosis

Phenotypes From GWAS Catalog for OLR1 Gene

Gene Ontology (GO) - Molecular Function for OLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24846140
GO:0030246 carbohydrate binding IEA --
GO:0042802 identical protein binding IPI 15939022
genes like me logo Genes that share ontologies with OLR1: view
genes like me logo Genes that share phenotypes with OLR1: view

Animal Models for OLR1 Gene

MGI Knock Outs for OLR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for OLR1

miRNA for OLR1 Gene

miRTarBase miRNAs that target OLR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OLR1 Gene

Localization for OLR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OLR1 Gene

Cell membrane; Lipid-anchor. Cell membrane; Single-pass type II membrane protein. Membrane raft. Secreted. Note=A secreted form also exists. Localization to membrane rafts requires palmitoylation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OLR1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Vesicles (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane TAS,IDA --
GO:0005887 integral component of plasma membrane TAS 9052782
GO:0016020 membrane IEA,TAS 9052782
genes like me logo Genes that share ontologies with OLR1: view

Pathways & Interactions for OLR1 Gene

genes like me logo Genes that share pathways with OLR1: view

Pathways by source for OLR1 Gene

Gene Ontology (GO) - Biological Process for OLR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis TAS 9052782
GO:0006954 inflammatory response IEA --
GO:0007155 cell adhesion IEA --
GO:0008015 blood circulation TAS 9052782
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with OLR1: view

No data available for SIGNOR curated interactions for OLR1 Gene

Drugs & Compounds for OLR1 Gene

(25) Drugs for OLR1 Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
BI-204 Pharma 0

(12) Additional Compounds for OLR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with OLR1: view

Transcripts for OLR1 Gene

mRNA/cDNA for OLR1 Gene

Unigene Clusters for OLR1 Gene

Oxidized low density lipoprotein (lectin-like) receptor 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OLR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c
SP1: - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: -
SP6:
SP7:

Relevant External Links for OLR1 Gene

GeneLoc Exon Structure for
OLR1
ECgene alternative splicing isoforms for
OLR1

Expression for OLR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OLR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OLR1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x10.4), Brain - Substantia nigra (x7.3), and Lung (x7.1).

Protein differential expression in normal tissues from HIPED for OLR1 Gene

This gene is overexpressed in Cervix (52.1) and Blymphocyte (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OLR1 Gene



NURSA nuclear receptor signaling pathways regulating expression of OLR1 Gene:

OLR1

SOURCE GeneReport for Unigene cluster for OLR1 Gene:

Hs.412484

mRNA Expression by UniProt/SwissProt for OLR1 Gene:

P78380-OLR1_HUMAN
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 expressed at intermediate and low level.

Evidence on tissue expression from TISSUES for OLR1 Gene

  • Nervous system(4.6)
  • Lung(4.4)
  • Heart(2.8)
  • Blood(2.3)
  • Muscle(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with OLR1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for OLR1 Gene

Orthologs for OLR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OLR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OLR1 34 33
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OLR1 34 33
  • 83.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OLR1 34 33
  • 81.16 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Olr1 33
  • 76.24 (n)
mouse
(Mus musculus)
Mammalia Olr1 16 34 33
  • 73.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OLR1 34
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 35 (a)
OneToMany
Species where no ortholog for OLR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for OLR1 Gene

ENSEMBL:
Gene Tree for OLR1 (if available)
TreeFam:
Gene Tree for OLR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OLR1: view image

Paralogs for OLR1 Gene

Paralogs for OLR1 Gene

(14) SIMAP similar genes for OLR1 Gene using alignment to 8 proteins:

  • OLR1_HUMAN
  • B7ZAN8_HUMAN
  • F5GZH1_HUMAN
  • F5H001_HUMAN
  • F5H0N6_HUMAN
  • F5H3G7_HUMAN
  • F5H7N8_HUMAN
  • J3QTI8_HUMAN
genes like me logo Genes that share paralogs with OLR1: view

Variants for OLR1 Gene

Sequence variations from dbSNP and Humsavar for OLR1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs11053646 risk-factor, Myocardial infarction 10,160,849(-) C/G coding_sequence_variant, intron_variant, missense_variant
rs12316150 risk-factor, Myocardial infarction 10,159,692(-) A/T 3_prime_UTR_variant
rs1000064997 -- 10,165,514(-) T/A intron_variant
rs1000114217 -- 10,171,346(-) G/A intron_variant
rs1000226288 -- 10,162,897(-) T/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for OLR1 Gene

Variant ID Type Subtype PubMed ID
esv3628526 CNV loss 21293372
esv3628528 CNV loss 21293372
nsv1069642 CNV deletion 25765185

Variation tolerance for OLR1 Gene

Residual Variation Intolerance Score: 43.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.33; 70.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OLR1 Gene

Human Gene Mutation Database (HGMD)
OLR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OLR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OLR1 Gene

Disorders for OLR1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for OLR1 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myocardial infarction
  • myocardial infarction, susceptibility to
syndromic x-linked intellectual disability snyder type
  • srs
atherosclerosis susceptibility
  • aths
alzheimer disease
  • ad
vascular disease
  • vascular tissue disease
- elite association - COSMIC cancer census association via MalaCards
Search OLR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OLR1_HUMAN
  • Note=Independent association genetic studies have implicated OLR1 gene variants in myocardial infarction susceptibility.
  • Note=OLR1 may be involved in Alzheimer disease (AD). Involvement in AD is however unclear: according to some authors (PubMed:12354387, PubMed:12810610 and PubMed:15976314), variations in OLR1 modify the risk of AD, while according to other (PubMed:15000751 and PubMed:15060104) they do not. {ECO:0000269 PubMed:12384789, ECO:0000269 PubMed:12807963, ECO:0000269 PubMed:15860461}.

Additional Disease Information for OLR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OLR1: view

No data available for Genatlas for OLR1 Gene

Publications for OLR1 Gene

  1. Genetic variation in lectin-like oxidized low-density lipoprotein receptor 1 (LOX1) gene and the risk of coronary artery disease. (PMID: 12810610) Chen Q … Kamboh MI (Circulation 2003) 3 4 22 44 58
  2. Oxidized LDL receptor gene (OLR1) is associated with the risk of myocardial infarction. (PMID: 12646194) Tatsuguchi M … Matsuoka R (Biochemical and biophysical research communications 2003) 3 4 22 44 58
  3. IVS4-14 A/G and IVS4-73 C/T polymorphisms in OLR1 gene in patients with ischemic cerebrovascular diseases. (PMID: 19929426) Vietri MT … Cioffi M (Genetic testing and molecular biomarkers 2010) 3 22 44 58
  4. Variation in the human lectin-like oxidized low-density lipoprotein receptor 1 (LOX-1) gene is associated with plasma soluble LOX-1 levels. (PMID: 18469066) Brinkley TE … Hagberg JM (Experimental physiology 2008) 3 22 44 58
  5. Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD. (PMID: 18384690) Knowles JW … Quertermous T (BMC medical genetics 2008) 3 22 44 58

Products for OLR1 Gene

Sources for OLR1 Gene

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