Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LDLR Gene

Aliases for LDLR Gene

  • Low Density Lipoprotein Receptor 2 3 5
  • LDL Receptor 3 4
  • Low-Density Lipoprotein Receptor Class A Domain-Containing Protein 3 3
  • Familial Hypercholesterolemia 2
  • LDLCQ2 3
  • FHC 3
  • FH 3

External Ids for LDLR Gene

Previous GeneCards Identifiers for LDLR Gene

  • GC19P011331
  • GC19P011045
  • GC19P011200
  • GC19P010777

Summaries for LDLR Gene

Entrez Gene Summary for LDLR Gene

  • The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]

GeneCards Summary for LDLR Gene

LDLR (Low Density Lipoprotein Receptor) is a Protein Coding gene. Diseases associated with LDLR include hypercholesterolemia, familial and homozygous familial hypercholesterolemia. Among its related pathways are Signaling by GPCR and Lipoprotein metabolism. GO annotations related to this gene include calcium ion binding and low-density lipoprotein particle binding. An important paralog of this gene is LRP1B.

UniProtKB/Swiss-Prot for LDLR Gene

  • Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits.

  • (Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins (PubMed:10535997, PubMed:12615904). Acts as a receptor for vesicular stomatitis virus (PubMed:23589850). In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells (PubMed:11100124).

Gene Wiki entry for LDLR Gene

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

Genomics for LDLR Gene

Regulatory Elements for LDLR Gene

Promoters for LDLR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LDLR on UCSC Golden Path with GeneCards custom track

Genomic Location for LDLR Gene

Chromosome:
19
Start:
11,089,362 bp from pter
End:
11,133,830 bp from pter
Size:
44,469 bases
Orientation:
Plus strand

Genomic View for LDLR Gene

Genes around LDLR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LDLR Gene

Proteins for LDLR Gene

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

    Protein Symbol:
    P01130-LDLR_HUMAN
    Recommended name:
    Low-density lipoprotein receptor
    Protein Accession:
    P01130
    Secondary Accessions:
    • B4DII3
    • B4DJZ8
    • B4DR00
    • B4DTQ3
    • C0JYY8
    • H0YLU8
    • H0YNT7
    • Q53ZD9
    • Q59FQ1
    • Q9UDH7

    Protein attributes for LDLR Gene

    Size:
    860 amino acids
    Molecular mass:
    95376 Da
    Quaternary structure:
    • Interacts with LDLRAP1, ARRB1, SNX17. Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif. Interacts with the full length immature form of PCSK9 (via C-terminus).
    • (Microbial infection) Interacts with vesicular stomatitis virus glycoprotein.
    • (Microbial infection) May interact with HIV-1 Tat.
    SequenceCaution:
    • Sequence=BAD92646.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LDLR Gene

    Alternative splice isoforms for LDLR Gene

neXtProt entry for LDLR Gene

Proteomics data for LDLR Gene at MOPED

Post-translational modifications for LDLR Gene

  • N- and O-glycosylated.
  • Ubiquitinated by MYLIP leading to degradation.
  • Glycosylation at Asn 97, Asn 156, Asn 272, Asn 515, Asn 657, Thr 721, Thr 724, Ser 732, Thr 738, Thr 741, Thr 742, Thr 743, and Ser 750
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for LDLR Gene

Domains & Families for LDLR Gene

Gene Families for LDLR Gene

Graphical View of Domain Structure for InterPro Entry

P01130

UniProtKB/Swiss-Prot:

LDLR_HUMAN :
  • The NPXY motif mediates the interaction with the clathrin adaptor DAB2 involved in receptor internalization.
  • Belongs to the LDLR family.
  • Contains 6 LDL-receptor class B repeats.
Domain:
  • The NPXY motif mediates the interaction with the clathrin adaptor DAB2 involved in receptor internalization.
  • Contains 3 EGF-like domains.
  • Contains 7 LDL-receptor class A domains.
Family:
  • Belongs to the LDLR family.
Similarity:
  • Contains 6 LDL-receptor class B repeats.
genes like me logo Genes that share domains with LDLR: view

Function for LDLR Gene

Molecular function for LDLR Gene

GENATLAS Biochemistry:
lipoprotein,low density,receptor
UniProtKB/Swiss-Prot Function:
Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins (PubMed:10535997, PubMed:12615904). Acts as a receptor for vesicular stomatitis virus (PubMed:23589850). In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells (PubMed:11100124).

Gene Ontology (GO) - Molecular Function for LDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 22081141
GO:0004872 receptor activity IC 22848640
GO:0030169 low-density lipoprotein particle binding IEA --
GO:0032050 clathrin heavy chain binding TAS 12121421
genes like me logo Genes that share ontologies with LDLR: view
genes like me logo Genes that share phenotypes with LDLR: view

Human Phenotype Ontology for LDLR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LDLR Gene

MGI Knock Outs for LDLR:

miRNA for LDLR Gene

miRTarBase miRNAs that target LDLR

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LDLR Gene

Localization for LDLR Gene

Subcellular locations from UniProtKB/Swiss-Prot for LDLR Gene

Cell membrane; Single-pass type I membrane protein. Endomembrane system; Single-pass type I membrane protein. Membrane, clathrin-coated pit; Single-pass type I membrane protein. Golgi apparatus. Early endosome. Late endosome. Cell surface. Lysosome. Note=Found distributed from the plasma membrane to intracellular compartments. Localizes to the Golgi apparatus, early and late endosomes/lysosomes and cell surface in the presence of PCSK9.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LDLR Gene COMPARTMENTS Subcellular localization image for LDLR gene
Compartment Confidence
endosome 5
extracellular 5
golgi apparatus 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 2
endoplasmic reticulum 2
nucleus 2
peroxisome 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for LDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 15166224
GO:0005794 Golgi apparatus IDA 17461796
GO:0009897 external side of plasma membrane IDA 15166224
GO:0010008 endosome membrane TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with LDLR: view

Pathways & Interactions for LDLR Gene

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

SIGNOR curated interactions for LDLR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008203 cholesterol metabolic process IEA --
GO:0010899 regulation of phosphatidylcholine catabolic process ISS --
GO:0015914 phospholipid transport ISS --
GO:0030299 intestinal cholesterol absorption IMP 17142622
GO:0042159 lipoprotein catabolic process IEA --
genes like me logo Genes that share ontologies with LDLR: view

Drugs & Compounds for LDLR Gene

(80) Drugs for LDLR Gene - From: Novoseek, PharmGKB, Tocris, FDA Approved Drugs, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Porfimer Approved, Investigational Pharma Target, other/unknown 0
atorvastatin Approved Pharma Competitive, Inhibitor 0
Lovastatin Approved, Investigational Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 59
Pravastatin Approved Pharma Competitive, Inhibitor 144
rosuvastatin Approved Pharma Competitive, Inhibitor 0

(50) Additional Compounds for LDLR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
genes like me logo Genes that share compounds with LDLR: view

Transcripts for LDLR Gene

mRNA/cDNA for LDLR Gene

(8) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LDLR Gene

Low density lipoprotein receptor:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^
SP1: - - - -
SP2: - - - -
SP3: - -
SP4:
SP5: -
SP6:
SP7: - - -
SP8:

ExUns: 18a · 18b · 18c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for LDLR Gene

GeneLoc Exon Structure for
LDLR
ECgene alternative splicing isoforms for
LDLR

Expression for LDLR Gene

mRNA expression in normal human tissues for LDLR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LDLR Gene

This gene is overexpressed in Adrenal Gland (x4.6).

Protein differential expression in normal tissues from HIPED for LDLR Gene

This gene is overexpressed in Breast (57.4).

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



SOURCE GeneReport for Unigene cluster for LDLR Gene Hs.213289

genes like me logo Genes that share expression patterns with LDLR: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for LDLR Gene

Orthologs for LDLR Gene

This gene was present in the common ancestor of animals.

Orthologs for LDLR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LDLR 35
  • 83.29 (n)
  • 83.29 (a)
LDLR 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LDLR 35
  • 82.69 (n)
  • 83.12 (a)
LDLR 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ldlr 35
  • 79.75 (n)
  • 78.97 (a)
Ldlr 16
Ldlr 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LDLR 35
  • 98.57 (n)
  • 98.95 (a)
LDLR 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ldlr 35
  • 78.33 (n)
  • 77.23 (a)
oppossum
(Monodelphis domestica)
Mammalia LDLR 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LDLR 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 13 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia LDLR 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495826 35
  • 66.95 (n)
  • 68.99 (a)
Str.17411 35
African clawed frog
(Xenopus laevis)
Amphibia LOC397757 35
zebrafish
(Danio rerio)
Actinopterygii ldlra 35
  • 63 (n)
  • 60.95 (a)
ldlr 36
  • 53 (a)
OneToMany
LDLR (1 of 3) 36
  • 33 (a)
OneToMany
LDLR (3 of 3) 36
  • 53 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.34 35
fruit fly
(Drosophila melanogaster)
Insecta CG4861 37
  • 39 (a)
LpR1 36
  • 31 (a)
ManyToMany
LpR2 36
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T13C2.6 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
ManyToMany
Species with no ortholog for LDLR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 LDLR Gene

ENSEMBL:
Gene Tree for LDLR (if available)
TreeFam:
Gene Tree for LDLR (if available)

Paralogs for LDLR Gene

Paralogs for LDLR Gene

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

Variants for LDLR Gene

Sequence variations from dbSNP and Humsavar for LDLR Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_005304 Familial hypercholesterolemia (FH)
VAR_005306 -
VAR_005307 Familial hypercholesterolemia (FH)
VAR_005308 Familial hypercholesterolemia (FH)
VAR_005309 Familial hypercholesterolemia (FH)

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

Variant ID Type Subtype PubMed ID
nsv470126 CNV Loss 18288195
nsv833751 CNV Loss 17160897

Variation tolerance for LDLR Gene

Residual Variation Intolerance Score: 14.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LDLR Gene

HapMap Linkage Disequilibrium report
LDLR
Human Gene Mutation Database (HGMD)
LDLR

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

Disorders for LDLR Gene

MalaCards: The human disease database

(36) MalaCards diseases for LDLR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
homozygous familial hypercholesterolemia
  • hofh
ldlr-related familial hypercholesterolemia, autosomal dominant
  • hyperlipoproteinemia type iia
stomatitis
pinguecula
- elite association - COSMIC cancer census association via MalaCards
Search LDLR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LDLR_HUMAN
  • Familial hypercholesterolemia (FH) [MIM:143890]: Common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). {ECO:0000269 PubMed:10090484, ECO:0000269 PubMed:10206683, ECO:0000269 PubMed:10422803, ECO:0000269 PubMed:10447263, ECO:0000269 PubMed:10532689, ECO:0000269 PubMed:10660340, ECO:0000269 PubMed:10882754, ECO:0000269 PubMed:10978268, ECO:0000269 PubMed:10980548, ECO:0000269 PubMed:11298688, ECO:0000269 PubMed:11462246, ECO:0000269 PubMed:1446662, ECO:0000269 PubMed:1464748, ECO:0000269 PubMed:17142622, ECO:0000269 PubMed:17347910, ECO:0000269 PubMed:1867200, ECO:0000269 PubMed:19318025, ECO:0000269 PubMed:19319977, ECO:0000269 PubMed:22160468, ECO:0000269 PubMed:2318961, ECO:0000269 PubMed:24529145, ECO:0000269 PubMed:2569482, ECO:0000269 PubMed:2726768, ECO:0000269 PubMed:3263645, ECO:0000269 PubMed:3955657, ECO:0000269 PubMed:7550239, ECO:0000269 PubMed:7573037, ECO:0000269 PubMed:7583548, ECO:0000269 PubMed:7635461, ECO:0000269 PubMed:7635482, ECO:0000269 PubMed:7649546, ECO:0000269 PubMed:7649549, ECO:0000269 PubMed:8168830, ECO:0000269 PubMed:8347689, ECO:0000269 PubMed:8462973, ECO:0000269 PubMed:8664907, ECO:0000269 PubMed:8740918, ECO:0000269 PubMed:9026534, ECO:0000269 PubMed:9104431, ECO:0000269 PubMed:9143924, ECO:0000269 PubMed:9254862, ECO:0000269 PubMed:9259195, ECO:0000269 PubMed:9452094, ECO:0000269 PubMed:9452095, ECO:0000269 PubMed:9452118, ECO:0000269 PubMed:9654205, ECO:0000269 PubMed:9678702, ECO:0000269 PubMed:9852677, ECO:0000269 Ref.70}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for LDLR Gene

familial hypercholesterolemia,hyperlipoproteinemia,type IIa,characterized by a selective increase of LDL particles in plasma giving rise to tendon and skin xanthomas,arcus corneae and premature mortality from cardiovascular complications,autosomal dominant with a gene dosage effect and a more severe phenotype in homozygotes

Relevant External Links for LDLR

Genetic Association Database (GAD)
LDLR
Human Genome Epidemiology (HuGE) Navigator
LDLR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LDLR
genes like me logo Genes that share disorders with LDLR: view

Publications for LDLR Gene

  1. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. (PMID: 19319977) Abifadel M. … Boileau C. (Hum. Mutat. 2009) 3 4 48 67
  2. Mechanism of LDL binding and release probed by structure-based mutagenesis of the LDL receptor. (PMID: 19674976) Huang S. … Rudenko G. (J. Lipid Res. 2010) 3 23
  3. LDLR expression and localization are altered in mouse and human cell culture models of Alzheimer's disease. (PMID: 20049331) Abisambra J.F. … Potter H. (PLoS ONE 2010) 3 23
  4. Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. (PMID: 20145306) Chmara M. … Limon J. (J. Appl. Genet. 2010) 3 23
  5. Role of SFRS13A in low-density lipoprotein receptor splicing. (PMID: 20232416) Ling I.F. … Estus S. (Hum. Mutat. 2010) 3 23

Products for LDLR Gene

Sources for LDLR Gene

Back to Top

Content