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Aliases for LRP1 Gene

Aliases for LRP1 Gene

  • LDL Receptor Related Protein 1 2 3 5
  • Alpha-2-Macroglobulin Receptor 2 3 4
  • Low Density Lipoprotein Receptor-Related Protein 1 2 3
  • Apolipoprotein E Receptor 3 4
  • APOER 3 4
  • A2MR 3 4
  • APR 3 4
  • Prolow-Density Lipoprotein Receptor-Related Protein 1 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 1.1.1.94 56
  • EC 3.4.21.9 56
  • IGFBP-3R 3
  • IGFBP3R1 3
  • IGFBP3R 3
  • TGFBR5 3
  • LRP1A 3
  • LRP-1 4
  • CD91 3
  • KPA 3
  • LRP 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 Alzheimers Disease Pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include receptor activity. An important paralog of this gene is LRP1B.

UniProtKB/Swiss-Prot 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

Additional gene information for LRP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRP1 Gene

Genomics for LRP1 Gene

GeneHancer (GH) Regulatory Elements for LRP1 Gene

Promoters and enhancers for LRP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I057126 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 561.3 +4.9 4945 13.9 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF143 FOS SP3 LRP1 STAT6 HSPD1P4 NABP2 NAB2 DDIT3 MBD6 LRP1-AS
GH12I057145 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.3 +21.9 21859 10.1 FOXA2 MLX ZFP64 ARID4B ZNF48 ETS1 RXRA SP5 PPARG KAT8 LRP1 NAB2 NEMP1 NABP2 DDIT3 STAT6 MBD6 LRP1-AS PIR32415 GC12P057183
GH12I057077 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.8 -49.5 -49496 3.2 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 NEMP1 BAZ2A ZC3H10 MBD6 ENSG00000258317 RN7SL809P CDK4 MYO1A ZBTB39 ATP23
GH12I057238 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 10.1 +111.2 111195 4.4 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF213 ZNF143 KLF13 NDUFA4L2 STAT6 DTX3 NXPH4 ANKRD52 ENSG00000257740 NAB2 INHBE TSPAN31 MYO1A
GH12I057242 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +114.7 114702 2 PKNOX1 ATF1 SIN3A ZNF2 ZNF48 GLIS2 GATA2 ZNF143 KLF7 ZNF548 GC12P057242 BAZ2A NEMP1 CTDSP2 RN7SL809P CDK4 STAT2 EEF1AKMT3 ARHGAP9 OS9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LRP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LRP1 gene promoter:

Genomic Locations for LRP1 Gene

Genomic Locations for LRP1 Gene
chr12:57,128,493-57,213,359
(GRCh38/hg38)
Size:
84,867 bases
Orientation:
Plus strand
chr12:57,522,276-57,607,142
(GRCh37/hg19)

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.

    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.
  • Phosphorylated on serine and threonine residues.
  • Phosphorylated on tyrosine residues upon stimulation with PDGF. Tyrosine phosphorylation promotes interaction with SHC1.
  • The N-terminus is blocked.
  • Glycosylation at isoforms=2114, isoforms=2136, isoforms=2185, isoforms=2239, posLast=274274, isoforms=357, posLast=446446, posLast=729729, posLast=894894, posLast=897897, isoforms=928, isoforms=1050, isoforms=1101, posLast=11541154, isoforms=1155, isoforms=1195, isoforms=1218, posLast=15111511, posLast=15581558, isoforms=1575, posLast=16161616, posLast=16451645, posLast=17231723, isoforms=1733, posLast=17631763, posLast=18251825, isoforms=1933, posLast=19951995, posLast=20482048, posLast=21172117, isoforms=2127, posLast=24722472, posLast=25022502, isoforms=2521, posLast=25392539, isoforms=2601, posLast=26202620, isoforms=2638, isoforms=2773, isoforms=2815, posLast=28572857, posLast=29052905, isoforms=3048, isoforms=3089, isoforms=3264, isoforms=3333, posLast=34883488, isoforms=3535, isoforms=3662, posLast=37353735, isoforms=3788, isoforms=3839, isoforms=3953, posLast=40754075, isoforms=4125, posLast=41794179, posLast=42784278, posLast=42794279, and isoforms=4364

Other Protein References for LRP1 Gene

Protein Products

  • Abcam proteins 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
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for LRP1 Gene

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

GENATLAS Biochemistry:
low-density lipoprotein receptor related protein 1,600kDa,LDLR superfamily,putative susceptibility factor for Alzheimer disease
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.

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:0002020 protease binding IEA --
GO:0003723 RNA binding HDA,IDA 22658674
GO:0004872 receptor activity TAS 21289173
GO:0005041 low-density lipoprotein 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:

Animal Model Products

Clone Products

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.

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
cytosol 5
lysosome 5
endosome 5
extracellular 3
endoplasmic reticulum 2

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for LRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane HDA,IDA 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:

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 TAS,ISS --
genes like me logo Genes that share ontologies with LRP1: view

Drugs & Compounds for LRP1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
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
Tenecteplase Approved Pharma Target 42

(26) 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

Unigene Clusters for LRP1 Gene

Low density lipoprotein receptor-related protein 1:
Representative Sequences:

Clone Products

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: -
SP3:
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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 ^
SP1:
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SP27:
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 ·
SP1:
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SP8:
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SP10:
SP11: -
SP12:
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SP17:
SP18: - -
SP19:
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SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
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
ECgene alternative splicing isoforms for
LRP1

Expression for LRP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for LRP1 Gene



Protein tissue co-expression partners for LRP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LRP1 Gene:

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(4.8)
  • Liver(4.6)
  • Blood(4.5)
  • Skin(4.4)
  • Bone marrow(4.2)
  • Lung(3.5)
  • Muscle(3.4)
  • Pancreas(3.3)
  • Eye(2.9)
  • Heart(2.7)
  • Spleen(2.5)
  • Intestine(2.4)
  • Bone(2.3)
  • Lymph node(2)
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 33 34
  • 93.65 (n)
dog
(Canis familiaris)
Mammalia LRP1 33 34
  • 92.42 (n)
oppossum
(Monodelphis domestica)
Mammalia LRP1 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRP1 33 34
  • 91.79 (n)
rat
(Rattus norvegicus)
Mammalia Lrp1 33
  • 89.6 (n)
mouse
(Mus musculus)
Mammalia Lrp1 33 16 34
  • 89.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LRP1 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRP1 33 34
  • 81.14 (n)
lizard
(Anolis carolinensis)
Reptilia LRP1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485788 33
  • 73.68 (n)
Str.10942 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18251 33
zebrafish
(Danio rerio)
Actinopterygii lrp1b 34
  • 76 (a)
OneToOne
LOC565797 33
  • 72.43 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012372 33
  • 51.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta LRP1 33
  • 49.79 (n)
yl 35
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea lrp-1 35
  • 32 (a)
R01H2.3 35
  • 32 (a)
B0244.8 35
  • 31 (a)
T21E3.3 35
  • 31 (a)
F47B3.8 35
  • 29 (a)
F14B4.1 34
  • 28 (a)
OneToMany
rme-2 35
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
ManyToMany
Species where no ortholog for LRP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for LRP1 Gene

Paralogs for LRP1 Gene

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

Variants for LRP1 Gene

Sequence variations from dbSNP and Humsavar for LRP1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs483353013 not-provided, pathogenic, Atrophoderma vermiculatum, Keratosis pilaris, Keratosis pilaris atrophicans (KPA) [MIM:604093] 57,175,646(+) A/C/G coding_sequence_variant, missense_variant
rs569866427 A colorectal cancer sample 57,205,193(+) G/A coding_sequence_variant, missense_variant
rs769851229 uncertain-significance, Malignant tumor of prostate 57,162,423(+) G/A coding_sequence_variant, missense_variant
VAR_035994 A colorectal cancer sample p.Glu869Lys
rs1057518428 uncertain-significance, not specified 57,204,478(+) G/A coding_sequence_variant, missense_variant

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

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

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

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

Disorders for LRP1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for LRP1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, 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
genes like me logo Genes that share disorders with LRP1: view

No data available for Genatlas for LRP1 Gene

Publications for LRP1 Gene

  1. 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 22 44 58
  2. 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 22 44 58
  3. 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 22 44 58
  4. Serine and threonine phosphorylation of the low density lipoprotein receptor-related protein by protein kinase Calpha regulates endocytosis and association with adaptor molecules. (PMID: 15272003) Ranganathan S … Strickland DK (The Journal of biological chemistry 2004) 3 4 22 58
  5. Association of the 3' UTR transcription factor LBP-1c/CP2/LSF polymorphism with late-onset Alzheimer's disease. (PMID: 12555245) Luedecking-Zimmer E … Kamboh MI (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003) 3 22 44 58

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