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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
    mouse all
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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

    Gene LinkOut

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