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

    Gene ID: 4035, updated on 8-Oct-2017
    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; Vega:OTTHUMG00000044412
    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; APOER; LRP1A; TGFBR5; IGFBP3R
    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]
    Orthologs
    Location:
    12q13.3
    Exon count:
    90
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (57128401..57213377)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57522282..57607142)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene nuclear envelope integral membrane protein 1 Neighboring gene NGFI-A binding protein 2 Neighboring gene signal transducer and activator of transcription 6 Neighboring gene LRP1 antisense RNA Neighboring gene microRNA 1228 Neighboring gene neurexophilin 4 Neighboring gene NDUFA4, mitochondrial complex associated like 2 Neighboring gene serine hydroxymethyltransferase 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Keratosis pilaris
    MedGen: C0263383 OMIM: 604093 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

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

    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

    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
      Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
    • Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystem (from REACTOME)
      Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystemScavenger receptors bind free extracellular ligands as the initial step in clearance of the ligands from the body (reviewed in Ascenzi et al. 2005, Areschoug and Gordon 2009, Nielsen et al. 2010). So...
    • Malaria, organism-specific biosystem (from KEGG)
      Malaria, organism-specific biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
    • Malaria, conserved biosystem (from KEGG)
      Malaria, conserved biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
      Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • PDGFR-beta signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      PDGFR-beta signaling pathway, organism-specific biosystem
      PDGFR-beta signaling pathway
    • Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds, organism-specific biosystem (from WikiPathways)
      Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds, organism-specific biosystemThe Wnt/B-catenin pathway begins with Wnt family activation by MBOAT that allows Wnt proteins to translocate out of a cell and bind to FZD and LRP to form a complex. This complex stimulates B-catenin...
    • Retinoid metabolism and transport, organism-specific biosystem (from REACTOME)
      Retinoid metabolism and transport, organism-specific biosystemVitamin A (all-trans-retinol) must be taken up, either as carotenes from plants, or as retinyl esters from animal food. The most prominent carotenes are alpha-carotene, lycopene, lutein, beta-cryptox...
    • Scavenging of heme from plasma, organism-specific biosystem (from REACTOME)
      Scavenging of heme from plasma, organism-specific biosystemFree heme is damaging to tissues as it intercalates into biologic membranes, perturbing lipid bilayers and promoting the conversion of low-density lipoprotein to cytotoxic oxidized products. Moreover...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Statin Pathway, organism-specific biosystem (from WikiPathways)
      Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • Visual phototransduction, organism-specific biosystem (from REACTOME)
      Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
    • amb2 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
      amb2 Integrin signaling, organism-specific biosystem
      amb2 Integrin signaling
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ16451, MGC88725

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    alpha-2 macroglobulin receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    alpha-2 macroglobulin receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    apolipoprotein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apolipoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    apolipoprotein receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    clathrin heavy chain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    heparan sulfate proteoglycan binding TAS
    Traceable Author Statement
    more info
    PubMed 
    lipoprotein particle receptor binding IC
    Inferred by Curator
    more info
    PubMed 
    lipoprotein transporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    low-density lipoprotein receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protease binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    scavenger receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    amyloid-beta clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    amyloid-beta clearance NAS
    Non-traceable Author Statement
    more info
    PubMed 
    amyloid-beta clearance TAS
    Traceable Author Statement
    more info
    PubMed 
    aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apoptotic cell clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    astrocyte activation involved in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to amyloid-beta ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    lipoprotein metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipoprotein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of platelet-derived growth factor receptor-beta signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of smooth muscle cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phagocytosis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of amyloid-beta clearance TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of cell death IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of cholesterol efflux ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of lipid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of lysosomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein localization to plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    protein kinase C-activating G-protein coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    receptor internalization TAS
    Traceable Author Statement
    more info
    PubMed 
    receptor-mediated endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    receptor-mediated endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
     
    regulation of actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cholesterol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of phospholipase A2 activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of protein metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retinoid metabolic process TAS
    Traceable Author Statement
    more info
     
    transcytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane protein complex TAS
    Traceable Author Statement
    more info
    PubMed 
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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_016444.1 RefSeqGene

      Range
      5001..89861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002332.2NP_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)
      AB209498, AC137834, BU502641, X13916
      Consensus CDS
      CCDS8932.1
      UniProtKB/Swiss-Prot
      Q07954
      UniProtKB/TrEMBL
      Q59FG2
      Related
      ENSP00000243077.3, OTTHUMP00000245726, ENST00000243077.7, OTTHUMT00000412772
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      57128401..57213377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019303.1XP_016874792.1  prolow-density lipoprotein receptor-related protein 1 isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      57489966..57575252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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