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 cell... See more...

Aliases for LRP1 Gene

Aliases for LRP1 Gene

  • LDL Receptor Related Protein 1 2 3 5
  • Alpha-2-Macroglobulin Receptor 2 3 4
  • APOER 2 3 4
  • Prolow-Density Lipoprotein Receptor-Related Protein 1 3 4
  • Low Density Lipoprotein Receptor-Related Protein 1 2 3
  • Apolipoprotein E Receptor 3 4
  • LRP1A 2 3
  • A2MR 3 4
  • CD91 2 3
  • APR 3 4
  • LRP 2 3
  • Transforming Growth Factor-β Receptor Type V 2
  • TbetaR-V/LRP-1/IGFBP-3 Receptor 3
  • Type V Tgf-Beta Receptor 3
  • CD91 Antigen 4
  • EC 3.4.21.9 51
  • EC 1.1.1.94 51
  • IGFBP-3R 3
  • IGFBP3R1 3
  • IGFBP3R 3
  • TGFBR5 3
  • LRP-1 4
  • LRP1 5
  • KPA 3

External Ids for LRP1 Gene

Previous HGNC Symbols for LRP1 Gene

  • APR
  • A2MR
  • IGFBP3R1
  • IGFBP-3R

Previous GeneCards Identifiers for LRP1 Gene

  • GC12P057497
  • GC12P057746
  • GC12P057239
  • GC12P055808
  • GC12P054560

Summaries for LRP1 Gene

Entrez Gene Summary for LRP1 Gene

  • 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]

GeneCards Summary for LRP1 Gene

LRP1 (LDL Receptor Related Protein 1) is a Protein Coding gene. Diseases associated with LRP1 include Keratosis Pilaris Atrophicans and Atrophoderma Vermiculata. Among its related pathways are Neuroscience and Signaling by GPCR. An important paralog of this gene is LRP1B.

UniProtKB/Swiss-Prot Summary for LRP1 Gene

  • Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells. Required for early embryonic development. Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission (PubMed:11907044, PubMed:12888553, PubMed:12713657). Acts as an alpha-2-macroglobulin receptor (PubMed:26142438).
  • (Microbial infection) Functions as a receptor for Pseudomonas aeruginosa exotoxin A.

Gene Wiki entry for LRP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRP1 Gene

Genomics for LRP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LRP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRP1

Top Transcription factor binding sites by QIAGEN in the LRP1 gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • NF-kappaB
  • NF-kappaB1
  • STAT3

Genomic Locations for LRP1 Gene

Genomic Locations for LRP1 Gene
chr12:57,128,401-57,213,377
(GRCh38/hg38)
Size:
84,977 bases
Orientation:
Plus strand
chr12:57,522,276-57,607,142
(GRCh37/hg19)
Size:
84,867 bases
Orientation:
Plus strand

Genomic View for LRP1 Gene

Genes around LRP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRP1 Gene

Proteins for LRP1 Gene

  • Protein details for LRP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07954-LRP1_HUMAN
    Recommended name:
    Prolow-density lipoprotein receptor-related protein 1
    Protein Accession:
    Q07954
    Secondary Accessions:
    • Q2PP12
    • Q86SW0
    • Q8IVG8

    Protein attributes for LRP1 Gene

    Size:
    4544 amino acids
    Molecular mass:
    504606 Da
    Quaternary structure:
    • Heterodimer of an 85-kDa membrane-bound carboxyl subunit and a non-covalently attached 515-kDa N-terminal subunit. Intracellular domain interacts with MAFB (By similarity). Found in a complex with PID1/PCLI1, LRP1 and CUBNI. Interacts with SNX17, PID1/PCLI1, PDGF and CUBN. The intracellular domain interacts with SHC1, GULP1 and DAB1. Interacts with LRPAP1. Can weakly interact (via NPXY motif) with DAB2 (via PID domain); the interaction is enhanced by tyrosine phosphorylation of the NPXY motif. Interacts with bacterial exotoxins. Interacts with MDK; promotes neuronal survival (PubMed:10772929). Interacts with uPA/PLAU and PAI1/SERPINE1, either individually or in complex with each other, leading to rapid endocytosis; this interaction is abolished in the presence of LRPAP1/RAP (PubMed:15053742). Also interacts with tPA/PLAT alone or in complex with SERPINE1 (PubMed:15053742). Interacts with the urokinase receptor PLAUR; this interaction leads to PLAUR internalization and is impaired in the presence of SORL1 (PubMed:14764453). Interacts with LRPAP1; this interaction is followed by rapid internalization (PubMed:15053742). Interacts with PDGFB (PubMed:15053742).

    Three dimensional structures from OCA and Proteopedia for LRP1 Gene

    Alternative splice isoforms for LRP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRP1 Gene

Selected DME Specific Peptides for LRP1 Gene

Q07954:
  • CPDGSDE
  • KNVIALA

Post-translational modifications for LRP1 Gene

  • Cleaved into a 85 kDa membrane-spanning subunit (LRP-85) and a 515 kDa large extracellular domain (LRP-515) that remains non-covalently associated. Gamma-secretase-dependent cleavage of LRP-85 releases the intracellular domain from the membrane.
  • The N-terminus is blocked.
  • Phosphorylated on serine and threonine residues.
  • Phosphorylated on tyrosine residues upon stimulation with PDGF. Tyrosine phosphorylation promotes interaction with SHC1.
  • Glycosylation at Asn114, Asn136, Asn185, Asn239, Asn274, Asn357, Asn446, Asn729, Thr894, Ser897, Asn928, Asn1050, Thr1101, Asn1154, Asn1155, Asn1195, Asn1218, Asn1511, Asn1558, Asn1575, Asn1616, Asn1645, Asn1723, Asn1733, Asn1763, Asn1825, Asn1933, Asn1995, Asn2048, Asn2117, Asn2127, Asn2157, Asn2472, Asn2502, Asn2521, Asn2539, Asn2601, Asn2620, Asn2638, Thr2773, Asn2815, Thr2857, Asn2905, Asn2942, Asn3048, Asn3089, Asn3264, Asn3303, Asn3333, Asn3488, Thr3535, Asn3662, Thr3735, Asn3788, Asn3839, Asn3858, Asn3953, Asn4075, Asn4125, Asn4179, Asn4278, Asn4279, and Asn4364
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for LRP1 Gene

Antibody Products

  • Abcam antibodies for LRP1

Domains & Families for LRP1 Gene

Gene Families for LRP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for LRP1 Gene

InterPro:
Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
  • Low density lipoprotein-receptor, class A
  • Low-density lipoprotein receptor, YWTD repeat
ProtoNet:

Suggested Antigen Peptide Sequences for LRP1 Gene

GenScript: Design optimal peptide antigens:
  • Apolipoprotein E receptor (LRP1_HUMAN)
  • LRP1 protein (Q6PJ72_HUMAN)
  • LRP1 protein (Q7Z7K9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q07954

UniProtKB/Swiss-Prot:

LRP1_HUMAN :
  • Belongs to the LDLR family.
Family:
  • Belongs to the LDLR family.
genes like me logo Genes that share domains with LRP1: view

Function for LRP1 Gene

Molecular function for LRP1 Gene

UniProtKB/Swiss-Prot Function:
Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells. Required for early embryonic development. Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission (PubMed:11907044, PubMed:12888553, PubMed:12713657). Acts as an alpha-2-macroglobulin receptor (PubMed:26142438).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Functions as a receptor for Pseudomonas aeruginosa exotoxin A.
GENATLAS Biochemistry:
low-density lipoprotein receptor related protein 1,600kDa,LDLR superfamily,putative susceptibility factor for Alzheimer disease

Enzyme Numbers (IUBMB) for LRP1 Gene

Phenotypes From GWAS Catalog for LRP1 Gene

Gene Ontology (GO) - Molecular Function for LRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IC --
GO:0002020 protease binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0005041 low-density lipoprotein particle receptor activity TAS 20005821
GO:0005044 scavenger receptor activity TAS 11240025
genes like me logo Genes that share ontologies with LRP1: view
genes like me logo Genes that share phenotypes with LRP1: view

Human Phenotype Ontology for LRP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LRP1 Gene

MGI Knock Outs for LRP1:
  • Lrp1 Lrp1<tm1.1(KOMP)Wtsi>
  • Lrp1 Lrp1<tm1Her>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRP1

No data available for Transcription Factor Targets and HOMER Transcription for LRP1 Gene

Localization for LRP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRP1 Gene

[Low-density lipoprotein receptor-related protein 1 85 kDa subunit]: Cell membrane. Single-pass type I membrane protein. Membrane, coated pit.
[Low-density lipoprotein receptor-related protein 1 515 kDa subunit]: Cell membrane. Peripheral membrane protein. Extracellular side. Membrane, coated pit.
[Low-density lipoprotein receptor-related protein 1 intracellular domain]: Cytoplasm. Nucleus. Note=After cleavage, the intracellular domain (LRPICD) is detected both in the cytoplasm and in the nucleus.
Postsynaptic Golgi apparatus. Cytoplasm, cytoskeleton, microtubule organizing center. Note=Localizes to the postsynaptic Golgi apparatus region, also named Golgi outpost, which shapes dendrite morphology by functioning as sites of acentrosomal microtubule nucleation. {ECO:0000250 UniProtKB:G3V928}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRP1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytoskeleton 4
endosome 4
lysosome 4
golgi apparatus 4
extracellular 3
cytosol 3
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with LRP1: view

Pathways & Interactions for LRP1 Gene

genes like me logo Genes that share pathways with LRP1: view

SIGNOR curated interactions for LRP1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for LRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0002265 astrocyte activation involved in immune response ISS --
GO:0006629 lipid metabolic process TAS 21289173
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis ISS,TAS --
genes like me logo Genes that share ontologies with LRP1: view

Drugs & Compounds for LRP1 Gene

(45) Drugs for LRP1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antihemophilic factor, human recombinant Approved, Investigational Pharma Target, modulator 0
Coagulation Factor IX (Recombinant) Approved, Investigational Pharma Target 0
Coagulation Factor IX Human Approved Pharma Target 0
Lonoctocog alfa Approved, Investigational Pharma Target, modulator 0
Moroctocog alfa Approved Pharma Target, modulator 0

(28) Additional Compounds for LRP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for LRP1 Gene

Compound Action Cas Number
COG 133 ApoE mimetic peptide 514200-66-9
genes like me logo Genes that share compounds with LRP1: view

Drug Products

Transcripts for LRP1 Gene

mRNA/cDNA for LRP1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRP1

Alternative Splicing Database (ASD) splice patterns (SP) for LRP1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - -
SP2: -
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SP28:

ExUns: 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^
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SP28:

ExUns: 39 ^ 40 ^ 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45 ^ 46a · 46b ^ 47a · 47b ^ 48 ^ 49 ^ 50a · 50b · 50c ^ 51a · 51b ^ 52a · 52b ^ 53a · 53b · 53c · 53d ^ 54a ·
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SP11: -
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SP18: - -
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SP27:
SP28:

ExUns: 54b ^ 55 ^ 56 ^ 57a · 57b · 57c ^ 58 ^ 59 ^ 60a · 60b ^ 61a · 61b ^ 62a · 62b · 62c ^ 63 ^ 64a · 64b ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^
SP1:
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SP28:

Relevant External Links for LRP1 Gene

GeneLoc Exon Structure for
LRP1

Expression for LRP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LRP1 Gene

This gene is overexpressed in Serum (13.2) and Bone marrow stromal cell (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LRP1 Gene



Protein tissue co-expression partners for LRP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRP1

SOURCE GeneReport for Unigene cluster for LRP1 Gene:

Hs.162757

mRNA Expression by UniProt/SwissProt for LRP1 Gene:

Q07954-LRP1_HUMAN
Tissue specificity: Most abundant in liver, brain and lung.

Evidence on tissue expression from TISSUES for LRP1 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Blood(4.6)
  • Skin(4.6)
  • Bone marrow(4.5)
  • Muscle(3.9)
  • Pancreas(3.8)
  • Lung(3.8)
  • Eye(3.5)
  • Heart(3.4)
  • Bone(3.4)
  • Intestine(3.4)
  • Spleen(3)
  • Kidney(2.7)
  • Lymph node(2.7)
  • Adrenal gland(2.5)
  • Stomach(2.5)
genes like me logo Genes that share expression patterns with LRP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRP1 Gene

Orthologs for LRP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LRP1 30 31
  • 93.65 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LRP1 30 31
  • 92.42 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LRP1 31
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia LRP1 30 31
  • 91.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lrp1 30
  • 89.6 (n)
Mouse
(Mus musculus)
Mammalia Lrp1 30 17 31
  • 89.59 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LRP1 31
  • 44 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LRP1 30 31
  • 81.14 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LRP1 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100485788 30
  • 73.68 (n)
Str.10942 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.18251 30
Zebrafish
(Danio rerio)
Actinopterygii lrp1b 31
  • 76 (a)
OneToOne
LOC565797 30
  • 72.43 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012372 30
  • 51.09 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta LRP1 30
  • 49.79 (n)
yl 32
  • 27 (a)
Worm
(Caenorhabditis elegans)
Secernentea lrp-1 32
  • 32 (a)
R01H2.3 32
  • 32 (a)
B0244.8 32
  • 31 (a)
T21E3.3 32
  • 31 (a)
F47B3.8 32
  • 29 (a)
F14B4.1 31
  • 28 (a)
OneToMany
rme-2 32
  • 27 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
ManyToMany
Species where no ortholog for LRP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for LRP1 Gene

ENSEMBL:
Gene Tree for LRP1 (if available)
TreeFam:
Gene Tree for LRP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRP1: view image

Paralogs for LRP1 Gene

Paralogs for LRP1 Gene

(13) SIMAP similar genes for LRP1 Gene using alignment to 7 proteins:

  • LRP1_HUMAN
  • H0YJ88_HUMAN
  • H0YJI8_HUMAN
  • L0R6J6_HUMAN
  • Q6PJ72_HUMAN
  • Q7Z7K9_HUMAN
  • Q86SW0_HUMAN
genes like me logo Genes that share paralogs with LRP1: view

Variants for LRP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRP1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
684471 Not Provided: not provided 57,200,719(+) G/A MISSENSE_VARIANT
684483 Not Provided: not provided 57,201,085(+) G/C MISSENSE_VARIANT
708951 Likely Benign: not provided 57,191,498(+) A/G MISSENSE_VARIANT
710134 Likely Benign: not provided 57,208,826(+) G/A INTRON_VARIANT
711072 Benign: not provided 57,175,683(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for LRP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for LRP1 Gene

Variant ID Type Subtype PubMed ID
dgv2650n54 CNV loss 21841781
dgv96n21 CNV loss 19592680
esv2571611 CNV insertion 19546169
nsv476693 CNV novel sequence insertion 20440878
nsv482992 CNV gain+loss 15286789
nsv519293 CNV loss 19592680
nsv559023 CNV loss 21841781
nsv559028 CNV loss 21841781
nsv559030 CNV gain 21841781
nsv559031 CNV loss 21841781
nsv819001 CNV loss 19587683
nsv832428 CNV gain 17160897
nsv952189 CNV deletion 24416366

Variation tolerance for LRP1 Gene

Residual Variation Intolerance Score: 0.0482% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.68; 65.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRP1 Gene

Human Gene Mutation Database (HGMD)
LRP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRP1 Gene

Disorders for LRP1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for LRP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
keratosis pilaris atrophicans
  • kpa
atrophoderma vermiculata
  • ava
keratosis follicularis spinulosa decalvans
  • keratosis follicularis spinulosa decalvans, x-linked
keratosis
  • actinic keratosis
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search LRP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LRP1_HUMAN
  • Keratosis pilaris atrophicans (KPA) [MIM:604093]: A group of rare genodermatoses characterized by keratotic follicular papules, variable degrees of inflammation, and secondary atrophic scarring. Most cases are associated with an atopic diathesis and keratosis pilaris on the extensor extremities. KPA is comprised of three distinct clinical subtypes: keratosis pilaris atrophicans faciei, atrophoderma vermiculatum, and keratosis follicularis spinulosa decalvans. Affected individuals may present with features overlapping the 3 subtypes. {ECO:0000269 PubMed:26142438}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LRP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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No data available for Genatlas for LRP1 Gene

Publications for LRP1 Gene

  1. Association of the LRP1 gene and cognitive performance with amnestic mild cognitive impairment in elderly Chinese. (PMID: 19664312) Shi YM … Jia JP (International psychogeriatrics 2009) 3 23 41
  2. Genetic interaction between tau and the apolipoprotein E receptor LRP1 Increases Alzheimer's disease risk. (PMID: 19684401) Vázquez-Higuera JL … Combarros O (Dementia and geriatric cognitive disorders 2009) 3 23 41
  3. Polymorphisms of APOE and LRP genes in Brazilian individuals with Alzheimer disease. (PMID: 18317248) Bahia VS … Nitrini R (Alzheimer disease and associated disorders 2008) 3 23 41
  4. Genetic-morphologic association study: association between the low density lipoprotein-receptor related protein (LRP) and cerebral amyloid angiopathy. (PMID: 15634227) Christoforidis M … Krohn K (Neuropathology and applied neurobiology 2005) 3 23 41
  5. Low-density lipoprotein receptor-related protein polymorphisms in patients with elevated factor VIII coagulant activity and venous thrombosis. (PMID: 16175004) Cunningham N … O'Donnell JS (Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2005) 3 23 41

Products for LRP1 Gene