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

Gene ID: 4035, updated on 7-Aug-2022

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; 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
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Genomic context

See LRP1 in Genome Data Viewer
Location:
12q13.3
Exon count:
89
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57128483..57213361)
110 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 Sharpr-MPRA regulatory region 4597 Neighboring gene NGFI-A binding protein 2 Neighboring gene signal transducer and activator of transcription 6 Neighboring gene uncharacterized LOC124902946 Neighboring gene LRP1 antisense RNA Neighboring gene Sharpr-MPRA regulatory region 9665 Neighboring gene microRNA 1228 Neighboring gene neurexophilin 4 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
Ulerythema ophryogenes
MedGen: C0263428 OMIM: 604093 GeneReviews: Not available
not available

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

Homology

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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 pathway-restricted SMAD protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
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
PubMed 
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 cell death IGI
Inferred from Genetic Interaction
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
PubMed 
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 cytoskeleton 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 integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lysosomal membrane HDA PubMed 
located_in membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_016444.1 RefSeqGene

    Range
    5001..89861
    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, Q8IVG8
    UniProtKB/TrEMBL
    Q59FG2
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)