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    LRP1 LDL receptor related protein 1 [ Homo sapiens (human) ]

    Gene ID: 4035, updated on 20-Feb-2024

    Summary

    Official Symbol
    LRP1provided by HGNC
    Official Full Name
    LDL receptor related protein 1provided by HGNC
    Primary source
    HGNC:HGNC:6692
    See related
    Ensembl:ENSG00000123384 MIM:107770; AllianceGenome:HGNC:6692
    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
    APR; KPA; LRP; A2MR; CD91; DDH3; APOER; LRP1A; TGFBR5; IGFBP3R; IGFBP-3R; IGFBP3R1
    Summary
    This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]
    Expression
    Ubiquitous expression in fat (RPKM 73.6), ovary (RPKM 50.9) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LRP1 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    89
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57128483..57213361)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57096318..57181610)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57522266..57607144)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4571 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57485501-57485781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4572 Neighboring gene Sharpr-MPRA regulatory region 4597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4573 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57488515-57489045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57489590-57490426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57493803-57494325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57495608-57496108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57496109-57496609 Neighboring gene NGFI-A binding protein 2 Neighboring gene signal transducer and activator of transcription 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57504271-57505218 Neighboring gene uncharacterized LOC124902946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57505219-57506164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6527 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57521273-57521926 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57527325-57528080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57540016-57540944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57542802-57543729 Neighboring gene LRP1 antisense RNA Neighboring gene Sharpr-MPRA regulatory region 9665 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57566901-57567114 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:57570347-57571546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57586343-57586842 Neighboring gene microRNA 1228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57608455-57608977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57609975-57610474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57610622-57611230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57611231-57611837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57617093-57617999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57624967-57625547 Neighboring gene neurexophilin 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57625548-57626129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57626711-57627291 Neighboring gene NDUFA4 mitochondrial complex associated like 2 Neighboring gene serine hydroxymethyltransferase 2

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Developmental dysplasia of the hip 3
    MedGen: CN376199 OMIM: 620690 GeneReviews: Not available
    not available
    Keratosis pilaris atrophicans
    MedGen: C0263428 OMIM: 604093 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.
    EBI GWAS Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association analysis identifies susceptibility loci for migraine without aura.
    EBI GWAS Catalog
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    EBI GWAS Catalog
    Genome-wide association study reveals three susceptibility loci for common migraine in the general population.
    EBI GWAS Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates OCLN (occludin) and LRP1 and upregulates AGER (RAGE), and in a RhoA/ROCK1 dependent manner as shown through hydroxyfasudil inhibition in hCMEC/D3 cells PubMed
    tat HIV-1 Tat increases in inhibitory synapse number in neurons are dependent on LRP binding and NMDAR activation but not PSD95 ubiquitination PubMed
    tat HIV-1 Tat potentiates NMDA-evoked (Ca2+)I responses involve LRP and a Src family kinase via the NOS/sGC/PKG pathway PubMed
    tat HIV-1 Tat treatment induces the formation of complexes involving the low-density lipoprotein receptor-related protein (LRP), postsynaptic density protein-95 (PSD-95), and N-methyl-d-aspartic acid (NMDA) receptors at the neuron surface PubMed
    tat HIV-1 Tat and TGF-beta secretion enhance parasite entry in human macrophages by upregulating surface expression of CD91/LRP-1 PubMed
    tat HIV-1 Tat decreases the scaffolding protein postsynaptic density 95 (PSD95) in synapses via the low-density lipoprotein receptor-related protein (LRP); Tat decreases PSD95 in a concentration-dependent manner PubMed
    tat Binding of HIV-1 Tat to LRP inhibits neuronal binding, uptake and degradation of physiological ligands for LRP, including alpha2-macroglobulin, apolipoprotein E4, amyloid precursor and amyloid beta-protein PubMed
    tat LRP binds to the core domain of HIV-1 Tat (amino acids 37-48) and promotes the efficient uptake of Tat into neurons, suggesting Tat may mediate HIV-1 induced neuropathology through disruption of LRP ligands and activation of neuronal genes PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ16451, MGC88725

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables alpha-2 macroglobulin receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables alpha-2 macroglobulin receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables amyloid-beta binding IC
    Inferred by Curator
    more info
     
    enables apolipoprotein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables apolipoprotein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables apolipoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables apolipoprotein receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cargo receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cargo receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables cargo receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cargo receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables clathrin heavy chain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables heparan sulfate proteoglycan binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables lipoprotein particle receptor binding IC
    Inferred by Curator
    more info
    PubMed 
    enables low-density lipoprotein particle receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables scavenger receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amyloid-beta clearance NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in amyloid-beta clearance TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in amyloid-beta clearance by cellular catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in amyloid-beta clearance by cellular catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in amyloid-beta clearance by cellular catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in amyloid-beta clearance by transcytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in amyloid-beta clearance by transcytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in amyloid-beta clearance by transcytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in apoptotic cell clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in astrocyte activation involved in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to amyloid-beta ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in enzyme-linked receptor protein signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in lipoprotein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in lysosomal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    acts_upstream_of negative regulation of metallopeptidase activity IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of platelet-derived growth factor receptor-beta signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of smooth muscle cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phagocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phagocytosis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of amyloid-beta clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of amyloid-beta clearance TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cholesterol efflux ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of lipid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of lysosomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of protein localization to plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in receptor internalization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in receptor-mediated endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in receptor-mediated endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in receptor-mediated endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cholesterol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of phospholipase A2 activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in retinoid metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in transcytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in transport across blood-brain barrier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in focal adhesion HDA PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of plasma membrane protein complex TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    prolow-density lipoprotein receptor-related protein 1
    Names
    TbetaR-V/LRP-1/IGFBP-3 receptor
    alpha-2-macroglobulin receptor
    apolipoprotein E receptor
    low density lipoprotein receptor-related protein 1
    type V tgf-beta receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016444.2 RefSeqGene

      Range
      5002..89880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002332.3NP_002323.2  prolow-density lipoprotein receptor-related protein 1 preproprotein

      See identical proteins and their annotated locations for NP_002323.2

      Status: REVIEWED

      Source sequence(s)
      AC023237, AC137628, AC137834
      Consensus CDS
      CCDS8932.1
      UniProtKB/Swiss-Prot
      Q07954, Q2PP12, Q86SW0, Q8IVG8
      Related
      ENSP00000243077.3, ENST00000243077.8
      Conserved Domains (9) summary
      smart00192
      Location:34933526
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:30943136
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:29823011
      EGF_CA; Calcium-binding EGF-like domain
      COG3386
      Location:22532463
      YvrE; Sugar lactone lactonase YvrE [Carbohydrate transport and metabolism]
      cd00112
      Location:35753609
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam00058
      Location:40134053
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam12662
      Location:29622985
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:807842
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00104
      Location:71104
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      57128483..57213361
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      57096318..57181610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)