LDLR - low density lipoprotein receptor Gene
Also Known as FH; FHC; FHCL1; LDLCQ2
Species: Homo sapiens
About LDLR
This gene has 14 transcripts (splice variants), 129 orthologues, 14 paralogues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 29.0), lung (RPKM 28.5) and 25 other tissues.
Summary
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/Cholesterol and is taken into the cell. Lysosomes release the Cholesterol, which 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, May 2022]
LDLR Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_000527.5 | NP_000518.1 | low-density lipoprotein receptor isoform 1 precursor |
| NM_001195798.2 | NP_001182727.1 | low-density lipoprotein receptor isoform 2 precursor |
| NM_001195799.2 | NP_001182728.1 | low-density lipoprotein receptor isoform 3 precursor |
| NM_001195800.2 | NP_001182729.1 | low-density lipoprotein receptor isoform 4 precursor |
| NM_001195803.2 | NP_001182732.1 | low-density lipoprotein receptor isoform 6 precursor |
| NM_001406861.1 | NP_001393790.1 | low-density lipoprotein receptor isoform 7 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
26526611 | GOA |
| enables low-density lipoprotein particle binding |
IMP
IMP: Inferred from mutant phenotype
|
6299582 | GOA |
| enables low-density lipoprotein particle receptor activity |
IDA
IDA: Inferred from direct assay
|
6091915 | GOA |
| enables low-density lipoprotein particle receptor activity |
IMP
IMP: Inferred from mutant phenotype
|
6299582 | GOA |
| enables molecular adaptor activity |
EXP
EXP: Inferred from Experiment
|
22091758 | GOA |
| enables protease binding |
IPI
IPI: Inferred from physical interaction
|
22081141 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10571240 | GOA |
| enables very-low-density lipoprotein particle receptor activity |
IDA
IDA: Inferred from direct assay
|
8626535 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
17461796 | GOA |
| part of PCSK9-LDLR complex |
IDA
IDA: Inferred from direct assay
|
22081141 | GOA |
| part of PCSK9-LDLR complex |
IPI
IPI: Inferred from physical interaction
|
22081141 | GOA |
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
17461796 | GOA |
| located in clathrin-coated pit |
IDA
IDA: Inferred from direct assay
|
6091915 | GOA |
| located in early endosome |
IDA
IDA: Inferred from direct assay
|
15166224 | GOA |
| located in external side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
15166224 | GOA |
| located in late endosome |
IDA
IDA: Inferred from direct assay
|
17461796 | GOA |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
15166224 | GOA |
| part of receptor complex |
IDA
IDA: Inferred from direct assay
|
23382219 | GOA |
LDLR Protein Structure
Ldl_recept_a: Low-density lipoprotein receptor domain class A (26 - 63)
Ldl_recept_a: Low-density lipoprotein receptor domain class A (67 - 104)
Ldl_recept_a: Low-density lipoprotein receptor domain class A (107 - 143)
Ldl_recept_a: Low-density lipoprotein receptor domain class A (147 - 184)
Ldl_recept_a: Low-density lipoprotein receptor domain class A (196 - 231)
Ldl_recept_a: Low-density lipoprotein receptor domain class A (235 - 270)
Ldl_recept_a: Low-density lipoprotein receptor domain class A (276 - 313)
FXa_inhibition: Coagulation Factor Xa inhibitory site (318 - 348)
EGF_CA: Calcium-binding EGF domain (354 - 392)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (439 - 483)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (487 - 526)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (529 - 569)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (573 - 614)
Ldl_recept_b: Low-density lipoprotein receptor repeat class B (616 - 656)
FXa_inhibition: Coagulation Factor Xa inhibitory site (673 - 711)
- 0
- 200
- 400
- 600
- 800
- 860 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
low-density lipoprotein receptor |
|
LDLR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
LDLR | P01130 | TLE5 | Homo sapiens | Q08117-2 | 32296183 | |
|
Intra
|
LDLR | P01130 | TLE5 | Homo sapiens | Q08117-2 | 32296183 | |
|
Intra
|
LDLR | P01130 | TLE5 | Homo sapiens | Q08117-2 | 32296183 | |
|
Intra
|
LDLR | P01130 | APOE | Homo sapiens | P02649 | 24447298 | |
|
Intra
|
LDLR | P01130 | APOE | Homo sapiens | P02649 | 20030366 | |
|
Intra
|
LDLR | P01130 | APOE | Homo sapiens | P02649 | 24447298 | |
|
Intra
|
LDLR | P01130 | PCSK9 | Homo sapiens | Q8NBP7-1 | 18753623 | |
|
Intra
|
LDLR | P01130 | PCSK9 | Homo sapiens | Q8NBP7-1 | 18753623 | |
|
Intra
|
LDLR | P01130 | APOH | Homo sapiens | P02749 | 20223219 | |
|
Intra
|
LDLR | P01130 | APOH | Homo sapiens | P02749 | 20223219 | |
|
Intra
|
LDLR | P01130 | APOH | Homo sapiens | P02749 | 20223219 | |
|
Intra
|
LDLR | P01130 | MTIF3 | Homo sapiens | Q9H2K0 | 32296183 | |
|
Intra
|
LDLR | P01130 | MTIF3 | Homo sapiens | Q9H2K0 | 32296183 | |
|
Intra
|
LDLR | P01130 | MTIF3 | Homo sapiens | Q9H2K0 | 32296183 | |
|
Intra
|
LDLR | P01130 | APOB | Homo sapiens | P04114 | 24447298 | |
|
Intra
|
LDLR | P01130 | LRPAP1 | Homo sapiens | P30533 | 20030366 | |
|
Intra
|
LDLR | P01130 | PCSK9 | Homo sapiens | Q8NBP7 | 22081141 | |
|
Intra
|
LDLR | P01130 | PCSK9 | Homo sapiens | Q8NBP7 | 22081141 | |
|
Intra
|
LDLR | P01130 | PCSK9 | Homo sapiens | Q8NBP7 | 25613181 |
Recombinant LDLR Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70235 | LDLR Protein, Human (HEK293, His) | P01130-1 (A22-R788) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P72392 | LDLR Protein, Human (Biotinylated, HEK293, Avi-His) | P01130-1 (A22-R788) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P700860 | LDLR Protein, Human (HEK293, Avi-His) | P01130-1 (A22-R788) | ≥ 95%, as determined by reducing SDS-PAGE. |
LDLR Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83717 | LDLR Antibody (YA3452) | WB, IHC-P | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hypercholesterolemia, Familial, 1 |
|
|
| Homozygous Familial Hypercholesterolemia |
|
|
| Familial Hypercholesterolemia |
|
|
| Carotid Artery Occlusion |
|
|
| Carotid Artery Dissection |
|
|
| Lipid Metabolism Disorder |
|
|
| Coronary Heart Disease 5 |
|
|
| Hyperlipoproteinemia, Type Iii |
|
|
| Aortic Dissection |
|
|
| Stroke, Ischemic |
|
|
| Stomatitis |
|
|
| Familial Hyperlipidemia |
|
|
| Hypercholesterolemia, Familial, 2 |
|
|
| Hypercholesterolemia, Familial, 4 |
|
|
| Arcus Corneae |
|
|
| Hyperalphalipoproteinemia 1 |
|
|
| Osteoporosis-Pseudoglioma Syndrome |
|
|
| Hepatitis C Virus |
|
|
| Smith-Lemli-Opitz Syndrome |
|
|
| Xanthomatosis |
|
|
| Coronary Heart Disease 1 |
|
|
| Heart Disease |
|
|
| Hypobetalipoproteinemia, Familial, 1 |
|
|
| Hypoalphalipoproteinemia |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Atherosclerosis Susceptibility |
|
|
| Hyperlipidemia, Familial Combined, 3 |
|
|
| Hepatoblastoma |
|
|
| Hypothyroidism |
|
|
| Vascular Disease |
|
|
| Cardiovascular System Disease |
|
|
| Myocardial Infarction |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Type 2 Diabetes Mellitus |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | LDLR | VGNC | VGNC:42622 |
| Macaca mulatta | LDLR | VGNC | VGNC:74248 |
| Felis catus | LDLR | VGNC | VGNC:68031 |
| Bos taurus | LDLR | VGNC | VGNC:55214 |
| Mus musculus | LDLR | MGD | MGI:96765 |
| Rattus norvegicus | LDLR | RGD | RGD:2998 |
| Others | LDLR | NCBI |