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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]
LDLR (Low Density Lipoprotein Receptor) is a Protein Coding gene. Diseases associated with LDLR include Hypercholesterolemia, Familial, 1 and Homozygous Familial Hypercholesterolemia. Among its related pathways are Lipoprotein metabolism and G-protein signaling Ras family GTPases in kinase cascades (scheme). Gene Ontology (GO) annotations related to this gene include calcium ion binding and low-density lipoprotein particle binding. An important paralog of this gene is VLDLR.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001540 | amyloid-beta binding | ISS | -- |
GO:0001618 | virus receptor activity | IEA | -- |
GO:0002020 | protease binding | IPI | 22081141 |
GO:0005041 | low-density lipoprotein particle receptor activity | IMP,TAS | 20005821 |
GO:0005509 | calcium ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | ISS | -- |
GO:0005764 | lysosome | IEA,IDA | 15166224 |
GO:0005768 | endosome | IEA | -- |
GO:0005769 | early endosome | IEA,IDA | 15166224 |
GO:0005770 | late endosome | IEA,IDA | 17461796 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Statin Pathway |
.71
|
|
2 | Lipoprotein metabolism | ||
3 | Aldosterone synthesis and secretion |
.41
|
|
4 | Metabolism of fat-soluble vitamins | ||
5 | Folate Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | TAS | 6299582 |
GO:0006869 | lipid transport | IEA | -- |
GO:0006897 | endocytosis | TAS | 12671190 |
GO:0006898 | receptor-mediated endocytosis | TAS | 24825898 |
GO:0006909 | phagocytosis | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Atorvastatin | Approved | Pharma | Inhibitor, Competitive | 893 | ||
Lovastatin | Approved, Investigational | Pharma | Inhibitor, Competitive, Agonist, Full agonist | HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor | 82 | |
Pravastatin | Approved | Pharma | Inhibitor, Competitive | 167 | ||
Tocopherol | Approved, Investigational | Pharma | Carrier, binder | 9,535 | ||
Porfimer sodium | Approved, Investigational | Pharma | Target, other/unknown | 0 |
Compound | Action | Cas Number |
---|---|---|
COG 133 | ApoE peptide fragment | 514200-66-9 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LDLR 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LDLR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LDLR 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ldlr 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ldlr 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | LDLR 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LDLR 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | LDLR 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100495826 30 |
|
||
Str.17411 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC397757 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ldlra 30 |
|
||
ldlr 31 |
|
OneToMany | |||
LDLR (3 of 3) 31 |
|
OneToMany | |||
LDLR (1 of 3) 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.34 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4861 32 |
|
|
|
LpR1 31 |
|
ManyToMany | |||
LpR2 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | T13C2.6 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
251407 | Pathogenic: Familial hypercholesterolemia 1 | 11,106,186(+) | AAAGTGCTGGGATTAC | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
251438 | Likely Pathogenic: Familial hypercholesterolemia 1 | 11,106,632(+) | GT/AC | MISSENSE_VARIANT,INTRON_VARIANT | |
251547 | Likely Pathogenic: Familial hypercholesterolemia 1 | 11,108,338(+) |