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Aliases for LDLR Gene

Aliases for LDLR Gene

  • Low Density Lipoprotein Receptor 2 3
  • LDL Receptor 3 4
  • LDLCQ2 3 6
  • FHC 3 6
  • FH 3 6
  • Low-Density Lipoprotein Receptor Class A Domain-Containing Protein 3 3
  • Low-Density Lipoprotein Receptor 3
  • Familial Hypercholesterolemia 2

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 ldlr-related familial hypercholesterolemia, autosomal dominant. Among its related pathways are Signaling by GPCR and Disease. 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. In case of HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LDLR Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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). Interacts with HCV E1/E2 heterodimer. Interacts 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 Asn97, Asn156, Asn272, Asn515, Asn657, Thr721, Thr724, Ser725, Thr726, Ser732, Ser733, Thr734, Thr738, Thr741, Thr742, Thr743, and Ser750
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for LDLR Gene

Domains for LDLR Gene

Gene Families for LDLR Gene

HGNC:
  • LDLR :Low density lipoprotein receptors

Graphical View of Domain Structure for InterPro Entry

P01130

UniProtKB/Swiss-Prot:

LDLR_HUMAN :
  • P01130
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. In case of HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells

Gene Ontology (GO) - Molecular Function for LDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IPI 10571240
GO:0005041 low-density lipoprotein receptor activity IDA 6091915
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12221107
GO:0030169 low-density lipoprotein particle binding IEA --
genes like me logo Genes that share ontologies with LDLR: view
genes like me logo Genes that share phenotypes with LDLR: view

Animal Models for LDLR Gene

MGI Knock Outs for LDLR:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LDLR

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
golgi apparatus 5
lysosome 5
plasma membrane 5
vacuole 5
extracellular 3
endoplasmic reticulum 2
nucleus 2
peroxisome 2
cytoskeleton 1
cytosol 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:0005768 endosome --
GO:0005769 early endosome IDA 15166224
GO:0005770 late endosome IDA 17461796
GO:0005794 Golgi apparatus IDA 17461796
genes like me logo Genes that share ontologies with LDLR: view

Pathways for LDLR Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for LDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006629 lipid metabolic process TAS 10827173
GO:0006897 endocytosis TAS 12671190
GO:0006898 receptor-mediated endocytosis TAS --
GO:0007603 phototransduction, visible light TAS --
genes like me logo Genes that share ontologies with LDLR: view

Compounds for LDLR Gene

(1) Tocris Compounds for LDLR Gene

Compound Action Cas Number
COG 133 ApoE peptide fragment [514200-66-9]

(2) Drugbank Compounds for LDLR Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-D-Mannose
3458-28-4 target
Porfimer
  • DHP ether
87806-31-3 target other/unknown

(123) Novoseek inferred chemical compound relationships for LDLR Gene

Compound -log(P) Hits PubMed IDs
hbgg 95.1 105
cholesterol 89.3 243
sterol 83.7 106
3-hydroxy-3-methylglutaryl-coa 76.6 33
25-hydroxycholesterol 75.6 22

(7) PharmGKB related drug/compound annotations for LDLR Gene

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

Transcripts for LDLR Gene

Unigene Clusters for LDLR Gene

Low density lipoprotein receptor:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LDLR

Primer 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 (4.6).

Integrated Proteomics: protein expression 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 expressions with LDLR: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia LDLR 35
  • 98.57 (n)
  • 98.95 (a)
LDLR 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia LDLR 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LDLR 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ldlr 35
  • 78.33 (n)
  • 77.23 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 13 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia LDLR 36
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397757 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495826 35
  • 66.95 (n)
  • 68.99 (a)
Str.17411 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.34 35
zebrafish
(Danio rerio)
Actinopterygii ldlr 36
  • 53 (a)
OneToMany
LDLR (1 of 3) 36
  • 33 (a)
OneToMany
LDLR (3 of 3) 36
  • 53 (a)
OneToMany
ldlra 35
  • 63 (n)
  • 60.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta LpR1 36
  • 31 (a)
ManyToMany
LpR2 36
  • 31 (a)
ManyToMany
CG4861 37
  • 39 (a)
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 MAF
rs688 -- 11,116,926(+) GTCAA(C/T)GGGGG reference, synonymous-codon, intron-variant
rs5925 -- 11,120,205(+) ATGGT(C/T)CTCTT synonymous-codon, reference, nc-transcript-variant
rs5926 -- 11,120,166(+) GTCAA(C/T)TTGTT reference, synonymous-codon, nc-transcript-variant
rs5927 -- 11,123,265(+) ACCCG(A/G)CCTGT reference, synonymous-codon, nc-transcript-variant
rs5928 Uncertain significance, - 11,129,564(+) CTGGC(A/G)GCTTA missense, reference, nc-transcript-variant

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

Relevant External Links for LDLR Gene

HapMap Linkage Disequilibrium report
LDLR
Human Gene Mutation Database (HGMD)
LDLR
Locus Specific Mutation Databases (LSDB)
LDLR

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

Disorders for LDLR Gene

(1) OMIM Diseases for LDLR Gene (606945)

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.67}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(92) Novoseek inferred disease relationships for LDLR Gene

Disease -log(P) Hits PubMed IDs
hypercholesterolemia familial 96.7 124
apolipoprotein b-100, familial defective 91.3 23
hypercholesterolemia, autosomal dominant 89.5 16
hypercholesterolemia 88.7 133
hypercholesterolemia, autosomal recessive 88.4 8

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

Publications for LDLR Gene

  1. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. (PMID: 17142622) Humphries S.E. … Neil H.A.W. (J. Med. Genet. 2006) 3 4 23 48
  2. 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 23 48
  3. Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia. (PMID: 19538517) Taylor A. … Norbury G. (Clin. Genet. 2009) 3 23 48
  4. Genetic polymorphisms of low density lipoprotein receptor can modify stroke presentation. (PMID: 19589204) Lee J.D. … Lee T.H. (Neurol. Res. 2010) 3 23 48
  5. Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. (PMID: 19007590) Civeira F. … PocovA- M. (J. Am. Coll. Cardiol. 2008) 3 23 48

Products for LDLR Gene

  • Addgene plasmids for LDLR

Sources for LDLR Gene

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