| URN | urn:agi-llid:3949 |
|---|---|
| Name | LDLR |
| Description | low density lipoprotein receptor (familial hypercholesterolemia) |
| Connectivity | 451 |
| Notes | 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. |
| Swiss-Prot Accession | P01130 |
|---|---|
| Q59FQ1 | |
| Q16479 | |
| Q6LCH2 | |
| Q6RCM4 | |
| Q9UH51 | |
| Q6GTJ9 | |
| P35951 | |
| Q3TDD1 | |
| Q3TVR4 | |
| Q3U8R7 | |
| Q8CAV5 | |
| Q8VCT0 | |
| Q91ZJ1 | |
| P35952 |
| Unigene ID | Hs.213289 |
|---|---|
| Hs.713967 | |
| Mm.3213 | |
| Rn.10483 | |
| Hs.707048 |
| KEGG ID | hsa:3949 |
|---|---|
| mmu:16835 | |
| rno:300438 |
| Swiss-Prot ID | LDLR_HUMAN |
|---|---|
| LDLR_RAT | |
| Q59FQ1_HUMAN | |
| Q6GTJ9_MOUSE |
| Cell Localization | Plasma membrane |
|---|
| GO ID | 0005509 |
|---|---|
| 0005041 | |
| 0004888 | |
| 0030229 | |
| 0030299 | |
| 0042632 | |
| 0008203 | |
| 0030301 | |
| 0006897 | |
| 0044419 | |
| 0006629 | |
| 0006869 | |
| 0042159 | |
| 0034383 | |
| 0006493 | |
| 0008202 | |
| 0030669 | |
| 0005905 | |
| 0005768 | |
| 0010008 | |
| 0005887 | |
| 0034362 | |
| 0005886 | |
| 0030169 | |
| 0005515 | |
| 0004872 | |
| 0042157 | |
| 0006810 | |
| 0016021 | |
| 0016020 | |
| 0043627 | |
| 0005901 | |
| 0005319 | |
| 0008034 | |
| 0005615 |
| Pathway | CVD and receptors (all) |
|---|---|
| CVD and receptors (all) + Ligands | |
| New Pathway | |
| PPARalpha Pathway |
| IPI ID | IPI00000070 |
|---|---|
| IPI00815700 | |
| IPI00312063 | |
| IPI00653515 | |
| IPI00406892 | |
| IPI00785217 | |
| IPI00203747 | |
| IPI00561560 | |
| IPI00781063 |
| Ariadne Ontology | Low-density lipoprotein (LDL) receptor |
|---|
| Mouse chromosome position | 9 5.0 cM |
|---|
| GO Molecular Function | protein binding |
|---|---|
| calcium ion binding | |
| low-density lipoprotein binding | |
| low-density lipoprotein receptor activity | |
| very-low-density lipoprotein receptor activity | |
| receptor activity | |
| transmembrane receptor activity |
| Homologene ID | 55469 |
|---|
| Hugo ID | 6547 |
|---|
| GO Cellular Component | membrane |
|---|---|
| clathrin-coated endocytic vesicle membrane | |
| endosome | |
| endosome membrane | |
| plasma membrane | |
| integral to membrane | |
| integral to plasma membrane | |
| caveola | |
| coated pit | |
| low-density lipoprotein particle |
| MGI ID | 96765 |
|---|
| Human chromosome position | 19p13.3 |
|---|
| GO Biological Process | cholesterol homeostasis |
|---|---|
| low-density lipoprotein particle clearance | |
| endocytosis | |
| cholesterol metabolic process | |
| steroid metabolic process | |
| protein amino acid O-linked glycosylation | |
| lipoprotein metabolic process | |
| lipoprotein catabolic process | |
| transport | |
| lipid transport | |
| cholesterol transport | |
| intestinal cholesterol absorption | |
| lipid metabolic process | |
| interspecies interaction between organisms | |
| response to estrogen stimulus |
| Rat chromosome position | 8q13 |
|---|
| Group | Low-density lipoprotein (LDL) receptor |
|---|---|
| membrane | |
| clathrin-coated endocytic vesicle membrane | |
| endosome | |
| endosome membrane | |
| plasma membrane | |
| integral to membrane | |
| integral to plasma membrane | |
| caveola | |
| coated pit | |
| low-density lipoprotein particle | |
| protein binding | |
| calcium ion binding | |
| low-density lipoprotein binding | |
| low-density lipoprotein receptor activity | |
| very-low-density lipoprotein receptor activity | |
| receptor activity | |
| transmembrane receptor activity | |
| cholesterol homeostasis | |
| low-density lipoprotein particle clearance | |
| endocytosis | |
| cholesterol metabolic process | |
| steroid metabolic process | |
| protein amino acid O-linked glycosylation | |
| lipoprotein metabolic process | |
| lipoprotein catabolic process | |
| transport | |
| lipid transport | |
| cholesterol transport | |
| intestinal cholesterol absorption | |
| lipid metabolic process | |
| interspecies interaction between organisms | |
| response to estrogen stimulus |
| RGD ID | 2998 |
|---|
| LocusLink ID | 3949 |
|---|---|
| 16835 | |
| 300438 |
| Alias | FH |
|---|---|
| FHC | |
| low density lipoprotein receptor | |
| LDL receptor | |
| low-density lipoprotein receptor class A domain-containing protein 3 | |
| Hlb301 | |
| LDLRA | |
| low density lipoprotein (LDL) receptors | |
| low density lipoprotein receptors | |
| low density lipoprotein receptor (familial hypercholesterolemia) | |
| LDLR | |
| LDL receptors | |
| Low-density lipoprotein receptor precursors | |
| LDL-R | |
| familial hypercholesterolemia gene | |
| low-density lipoprotein (LDL) receptor | |
| Low-density lipoprotein receptor precursor | |
| hypothetical protein B230344N16 | |
| RIKEN cDNA 1110033K02 gene |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 606945 |
|---|---|
| 143890 |