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OLR1 oxidized low density lipoprotein receptor 1 [ Homo sapiens (human) ]

Gene ID: 4973, updated on 2-Nov-2024

Summary

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Official Symbol
OLR1provided by HGNC
Official Full Name
oxidized low density lipoprotein receptor 1provided by HGNC
Primary source
HGNC:HGNC:8133
See related
Ensembl:ENSG00000173391 MIM:602601; AllianceGenome:HGNC:8133
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LOX1; LOXIN; SLOX1; CLEC8A; SCARE1
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. 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]
Expression
Biased expression in placenta (RPKM 50.3), lung (RPKM 32.5) and 5 other tissues See more
Orthologs
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Genomic context

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See OLR1 in Genome Data Viewer
Location:
12p13.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (10158301..10176266, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (10045018..10062993, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10310900..10324731, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369655 Neighboring gene heterogeneous nuclear ribonucleoprotein A/B pseudogene 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:10286337-10287157 Neighboring gene C-type lectin domain containing 7A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:10305885-10306388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5959 Neighboring gene MPRA-validated peak1568 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:10331989-10333188 Neighboring gene transmembrane protein 52B Neighboring gene MPRA-validated peak1569 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4236 Neighboring gene GABARAPL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:10364713-10365255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4237 Neighboring gene GABA type A receptor associated protein like 1 Neighboring gene killer cell lectin like receptor D1 Neighboring gene uncharacterized LOC124902875

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Simulative and experimental investigation on the cleavage site that generates the soluble human LOX-1. Biocca S, et al. Arch Biochem Biophys, 2013 Dec. PMID 24113299
  2. On the association of the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction or coronary artery disease. Trabetti E, et al. Eur J Hum Genet, 2006 Jan. PMID 16251892
  3. 3'UTR/T polymorphism of lectin-like oxidized low-density lipoprotein receptor-1 (LOX-1) is associated with modified anti-platelet activity of atorvastatin in hypercholesterolemic subjects. Puccetti L, et al. Atherosclerosis, 2005 Dec. PMID 16285995
  4. Significance of soluble lectin-like oxidized LDL receptor-1 levels in systemic and coronary circulation in acute coronary syndrome. Misaka T, et al. Biomed Res Int, 2014. PMID 24895597, Free PMC Article
  5. Expression of lectin-like oxidized LDL receptor-1 in smooth muscle cells after vascular injury. Eto H, et al. Biochem Biophys Res Commun, 2006 Mar 10. PMID 16434026

See all (336) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Elucidating the Role of Let-7d-5p and OLR1 in the Progression and Prognosis of Oral Squamous Cell Carcinoma via FAK/P53 Signaling Axis.
    Title: Elucidating the Role of Let-7d-5p and OLR1 in the Progression and Prognosis of Oral Squamous Cell Carcinoma via FAK/P53 Signaling Axis.
  2. LOX-1 and MMP-9 Inhibition Attenuates the Detrimental Effects of Delayed rt-PA Therapy and Improves Outcomes After Acute Ischemic Stroke.
    Title: LOX-1 and MMP-9 Inhibition Attenuates the Detrimental Effects of Delayed rt-PA Therapy and Improves Outcomes After Acute Ischemic Stroke.
  3. Associations of CKIP-1 and LOX-1 polymorphisms with the risk of type 2 diabetes mellitus with hypertension among Chinese adults.
    Title: Associations of CKIP-1 and LOX-1 polymorphisms with the risk of type 2 diabetes mellitus with hypertension among Chinese adults.
  4. Associations of Tissue and Soluble LOX-1 with Human Abdominal Aortic Aneurysm.
    Title: Associations of Tissue and Soluble LOX-1 with Human Abdominal Aortic Aneurysm.
  5. TM6SF2 reduces lipid accumulation in vascular smooth muscle cells by inhibiting LOX-1 and CD36 expression.
    Title: TM6SF2 reduces lipid accumulation in vascular smooth muscle cells by inhibiting LOX-1 and CD36 expression.
  6. Expression of OLR1 gene on tumor-associated macrophages of head and neck squamous cell carcinoma, and its correlation with clinical outcome.
    Title: Expression of OLR1 gene on tumor-associated macrophages of head and neck squamous cell carcinoma, and its correlation with clinical outcome.
  7. Up-regulation of oxidized low-density lipoprotein receptor 1 correlates with decreased miR-106b-5p, miR-93-5p, miR-3129-5p, miR-199b-3p, and miR-4465, higher recurrence rate, and poor prognosis in ovarian cancer.
    Title: Up-regulation of oxidized low-density lipoprotein receptor 1 correlates with decreased miR-106b-5p, miR-93-5p, miR-3129-5p, miR-199b-3p, and miR-4465, higher recurrence rate, and poor prognosis in ovarian cancer.
  8. Plasma soluble lectin-like oxidized low-density lipoprotein receptor-1 acts as a new biomarker for NSTEMI and STEMI patients.
    Title: Plasma soluble lectin-like oxidized low-density lipoprotein receptor-1 acts as a new biomarker for NSTEMI and STEMI patients.
  9. Genetic variations in OLR1 gene associated with PCOS and atherosclerotic risk factors.
    Title: Genetic variations in OLR1 gene associated with PCOS and atherosclerotic risk factors.
  10. miR-186-5p Dysregulation in Serum Exosomes from Patients with AMI Aggravates Atherosclerosis via Targeting LOX-1.
    Title: miR-186-5p Dysregulation in Serum Exosomes from Patients with AMI Aggravates Atherosclerosis via Targeting LOX-1.
Submit: New GeneRIF Correction See all GeneRIFs (284)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Myocardial infarction, susceptibility to
MedGen: C1832662 OMIM: 608446 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables low-density lipoprotein particle receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in blood circulation TAS
Traceable Author Statement
more info
 PubMed 
involved_in immune system process IEA
Inferred from Electronic Annotation
more info
  
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in leukocyte cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipoprotein metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis TAS
Traceable Author Statement
more info
 PubMed 
involved_in vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in membrane raft IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in specific granule membrane TAS
Traceable Author Statement
more info
  
located_in tertiary granule membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
oxidized low-density lipoprotein receptor 1
Names
C-type lectin domain family 8 member A
hLOX-1
lectin-type oxidized LDL receptor 1
ox LDL receptor 1
oxidized low density lipoprotein (lectin-like) receptor 1
oxidized low-density lipoprotein receptor 1, soluble form
scavenger receptor class E, member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016743.2 RefSeqGene

    Range
    9134..22965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172632.2 → NP_001166103.1  oxidized low-density lipoprotein receptor 1 isoform 2

    See identical proteins and their annotated locations for NP_001166103.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC024224
    Consensus CDS
    CCDS53745.1
    UniProtKB/TrEMBL
    F5GZH1
    Related
    ENSP00000405116.2, ENST00000432556.6
    Conserved Domains (2) summary
    pfam08391
    Location:35 → 79
    Ly49; Ly49-like protein, N-terminal region
    pfam13094
    Location:60 → 125
    CENP-Q; CENP-Q, a CENPA-CAD centromere complex subunit

  2. NM_001172633.2 → NP_001166104.1  oxidized low-density lipoprotein receptor 1 isoform 3

    See identical proteins and their annotated locations for NP_001166104.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC024224
    Consensus CDS
    CCDS53746.1
    UniProtKB/Swiss-Prot
    P78380
    Related
    ENSP00000439251.1, ENST00000545927.5
    Conserved Domains (2) summary
    pfam08391
    Location:35 → 158
    Ly49; Ly49-like protein, N-terminal region
    cl02432
    Location:144 → 188
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

  3. NM_002543.4 → NP_002534.1  oxidized low-density lipoprotein receptor 1 isoform 1

    See identical proteins and their annotated locations for NP_002534.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC024224
    Consensus CDS
    CCDS8618.1
    UniProtKB/Swiss-Prot
    A8K7V9, B4DI48, G3V1I4, P78380, Q2PP00, Q7Z484
    Related
    ENSP00000309124.3, ENST00000309539.8
    Conserved Domains (2) summary
    cd03593
    Location:144 → 266
    CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
    cl25732
    Location:73 → 137
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    10158301..10176266 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428907.1 → XP_047284863.1  oxidized low-density lipoprotein receptor 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K7V9, B4DI48, G3V1I4, P78380, Q2PP00, Q7Z484

  2. XM_047428909.1 → XP_047284865.1  oxidized low-density lipoprotein receptor 1 isoform X3

    Related
    ENSP00000442389.1, ENST00000539518.5

  3. XM_047428908.1 → XP_047284864.1  oxidized low-density lipoprotein receptor 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    10045018..10062993 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372134.1 → XP_054228109.1  oxidized low-density lipoprotein receptor 1 isoform X1

  2. XM_054372136.1 → XP_054228111.1  oxidized low-density lipoprotein receptor 1 isoform X3

  3. XM_054372135.1 → XP_054228110.1  oxidized low-density lipoprotein receptor 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P78380.1 GenPept UniProtKB/Swiss-Prot:P78380

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