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

    Gene ID: 4973, updated on 21-Dec-2019

    Summary

    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
    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

    Genomic context

    See OLR1 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (10158300..10172191, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10310899..10324790, 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 C-type lectin domain containing 7A Neighboring gene transmembrane protein 52B Neighboring gene uncharacterized LOC107984509 Neighboring gene GABA type A receptor associated protein like 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    blood circulation TAS
    Traceable Author Statement
    more info
    PubMed 
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    specific granule membrane TAS
    Traceable Author Statement
    more info
     
    tertiary granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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)

    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_016743.1 RefSeqGene

      Range
      5001..18892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172632.1NP_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, AK295409, BP219342, CA309323
      Consensus CDS
      CCDS53745.1
      UniProtKB/Swiss-Prot
      P78380
      Related
      ENSP00000405116.2, ENST00000432556.6
      Conserved Domains (2) summary
      pfam08391
      Location:3579
      Ly49; Ly49-like protein, N-terminal region
      pfam13094
      Location:60125
      CENP-Q; CENP-Q, a CENPA-CAD centromere complex subunit
    2. NM_001172633.1NP_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, AK295409, AL551100, BP219342, CA309323
      Consensus CDS
      CCDS53746.1
      UniProtKB/Swiss-Prot
      P78380
      Related
      ENSP00000439251.1, ENST00000545927.5
      Conserved Domains (2) summary
      pfam08391
      Location:35158
      Ly49; Ly49-like protein, N-terminal region
      cl02432
      Location:144188
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    3. NM_002543.4NP_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
      P78380
      UniProtKB/TrEMBL
      A0A024RAU0
      Related
      ENSP00000309124.3, ENST00000309539.8
      Conserved Domains (2) summary
      cd03593
      Location:144266
      CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
      cl25732
      Location:73137
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      10158300..10172191 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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