Gene Symbol | LDLR |
Entrez ID | 3949 |
Uniprot ID | P01130 |
Description | low density lipoprotein receptor |
Chromosomal Location | chr19: 11,089,362-11,133,816 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0006629 |
lipid metabolic process |
The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
TAS |
BP |
GO:0006897 |
endocytosis |
A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
TAS |
BP |
GO:0006898 |
receptor-mediated endocytosis |
An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. |
TAS |
BP |
GO:0008203 |
cholesterol metabolic process |
The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. |
IEA |
BP |
GO:0010628 |
positive regulation of gene expression |
Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. |
IEA |
BP |
GO:0010629 |
negative regulation of gene expression |
Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. |
IEA |
BP |
GO:0010867 |
positive regulation of triglyceride biosynthetic process |
Any process that increases the rate, frequency, or extent of triglyceride biosynthesis. Triglyceride biosynthesis is the collection of chemical reactions and pathways resulting in the formation of triglyceride, any triester of glycerol. |
ISS |
BP |
GO:0010899 |
regulation of phosphatidylcholine catabolic process |
Any process that modulates the rate, frequency or extent of phosphatidylcholine catabolism. Phosphatidylcholine catabolic processes are the chemical reactions and pathways resulting in the breakdown of phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline. |
ISS |
BP |
GO:0015914 |
phospholipid transport |
The directed movement of phospholipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Phospholipids are any lipids containing phosphoric acid as a mono- or diester. |
ISS |
BP |
GO:0030299 |
intestinal cholesterol absorption |
Uptake of cholesterol into the blood by absorption from the small intestine. |
IMP |
BP |
GO:0030301 |
cholesterol transport |
The directed movement of cholesterol, cholest-5-en-3-beta-ol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
IMP |
BP |
GO:0034383 |
low-density lipoprotein particle clearance |
The process in which a low-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. |
IMP |
BP |
GO:0042159 |
lipoprotein catabolic process |
The chemical reactions and pathways resulting in the breakdown of any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. |
IEA |
BP |
GO:0042632 |
cholesterol homeostasis |
Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. |
IMP |
BP |
GO:0046718 |
viral entry into host cell |
The process that occurs after viral attachment by which a virus, or viral nucleic acid, breaches the plasma membrane or cell envelope and enters the host cell. The process ends when the viral nucleic acid is released into the host cell cytoplasm. |
IEA |
BP |
GO:0050729 |
positive regulation of inflammatory response |
Any process that activates or increases the frequency, rate or extent of the inflammatory response. |
IEA |
BP |
GO:0070508 |
cholesterol import |
The directed movement of cholesterol into a cell or organelle. |
ISS |
BP |
GO:0071398 |
cellular response to fatty acid |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fatty acid stimulus. |
IEA |
BP |
GO:2000188 |
regulation of cholesterol homeostasis |
Any process that modulates the frequency, rate or extent of cholesterol homeostasis. |
IEA |
CC |
GO:0005764 |
lysosome |
A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
IDA |
CC |
GO:0005769 |
early endosome |
A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
IDA |
CC |
GO:0005770 |
late endosome |
A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
IDA |
CC |
GO:0005794 |
Golgi apparatus |
A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. |
IDA |
CC |
GO:0005886 |
plasma membrane |
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
TAS |
CC |
GO:0005887 |
integral component of plasma membrane |
The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
TAS |
CC |
GO:0005905 |
clathrin-coated pit |
A part of the endomembrane system in the form of an invagination of a membrane upon which a clathrin coat forms, and that can be converted by vesicle budding into a clathrin-coated vesicle. Coated pits form on the plasma membrane, where they are involved in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane, in the trans-Golgi network, and on some endosomes. |
IDA |
CC |
GO:0009897 |
external side of plasma membrane |
The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
IDA |
CC |
GO:0009986 |
cell surface |
The external part of the cell wall and/or plasma membrane. |
IDA|ISS |
CC |
GO:0010008 |
endosome membrane |
The lipid bilayer surrounding an endosome. |
TAS |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0016323 |
basolateral plasma membrane |
The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
ISS |
CC |
GO:0030669 |
clathrin-coated endocytic vesicle membrane |
The lipid bilayer surrounding a clathrin-coated endocytic vesicle. |
TAS |
CC |
GO:0034362 |
low-density lipoprotein particle |
A lipoprotein particle, rich in cholesterol esters and low in triglycerides that is typically composed of APOB100 and APOE and has a density of 1.02-1.06 g/ml and a diameter of between 20-25 nm. LDL particles are formed from VLDL particles (via IDL) by the loss of triglyceride and gain of cholesterol ester. They transport endogenous cholesterol (and to some extent triglycerides) from peripheral tissues back to the liver. |
IEA |
CC |
GO:0043235 |
receptor complex |
Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
IDA |
CC |
GO:0045177 |
apical part of cell |
The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. |
ISS |
CC |
GO:1990666 |
PCSK9-LDLR complex |
A protein complex consisting of the serine protease PCSK9 (Proprotein convertase subtilisin/kexin-9) and a low-density lipoprotein receptor (LDLR). Interaction typically occurs through the epidermal growth factor-like repeat A (EGF-A) domain of the LDLR, and complex formation promotes degradation of the LDLR through the endosome/lysosome pathway. |
IDA |
MF |
GO:0001618 |
virus receptor activity |
Combining with a virus component and mediating entry of the virus into the cell. |
IEA |
MF |
GO:0001948 |
glycoprotein binding |
Interacting selectively and non-covalently with a glycoprotein, a protein that contains covalently bound glycose (monosaccharide) residues. These also include proteoglycans. |
IPI |
MF |
GO:0002020 |
protease binding |
Interacting selectively and non-covalently with any protease or peptidase. |
IPI |
MF |
GO:0004872 |
receptor activity |
Combining with an extracellular or intracellular messenger to initiate a change in cell activity. |
IC |
MF |
GO:0005041 |
low-density lipoprotein receptor activity |
Combining with a low-density lipoprotein particle and delivering the low-density lipoprotein into the cell via endocytosis. |
IDA |
MF |
GO:0005509 |
calcium ion binding |
Interacting selectively and non-covalently with calcium ions (Ca2+). |
IEA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0030169 |
low-density lipoprotein particle binding |
Interacting selectively and non-covalently with a low-density lipoprotein particle, a lipoprotein particle that is rich in cholesterol esters and low in triglycerides, is typically composed of APOB100 and APOE, and has a density of 1.02-1.06 g/ml and a diameter of between 20-25 nm. |
IEA |
MF |
GO:0030229 |
very-low-density lipoprotein particle receptor activity |
Combining with a very-low-density lipoprotein particle and delivering the very-low-density lipoprotein into the cell via endocytosis. |
IDA |
MF |
GO:0032050 |
clathrin heavy chain binding |
Interacting selectively and non-covalently with a clathrin heavy chain. |
TAS |
MF |
GO:0042802 |
identical protein binding |
Interacting selectively and non-covalently with an identical protein or proteins. |
IPI |
Domain ID | Description |
---|---|
IPR000033 |
LDLR class B repeat |
IPR000152 |
EGF-type aspartate/asparagine hydroxylation site |
IPR000742 |
EGF-like domain |
IPR001881 |
EGF-like calcium-binding domain |
IPR002172 |
Low-density lipoprotein (LDL) receptor class A repeat |
IPR009030 |
Growth factor receptor cysteine-rich domain |
IPR011042 |
Six-bladed beta-propeller, TolB-like |
IPR013032 |
EGF-like, conserved site |
IPR018097 |
EGF-like calcium-binding, conserved site |
IPR023415 |
Low-density lipoprotein (LDL) receptor class A, conserved site |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa04144 |
Endocytosis |
KEGG |
hsa04913 |
Ovarian steroidogenesis |
KEGG |
hsa04925 |
Aldosterone synthesis and secretion |
KEGG |
hsa04976 |
Bile secretion |
KEGG |
hsa05145 |
Toxoplasmosis |
KEGG |
hsa05160 |
Hepatitis C |
KEGG |
WP1533 |
Vitamin B12 Metabolism |
WikiPathways |
WP15 |
Selenium Micronutrient Network |
WikiPathways |
WP399 |
Wnt Signaling Pathway and Pluripotency |
WikiPathways |
WP1982 |
Sterol Regulatory Element-Binding Proteins (SREBP) signalling |
WikiPathways |
WP710 |
DNA Damage Response (only ATM dependent) |
WikiPathways |
WP2846 |
Proprotein convertase subtilisin/kexin type 9 (PCSK9) mediated LDL receptor degradation |
WikiPathways |
WP430 |
Statin Pathway |
WikiPathways |
WP2374 |
Oncostatin M Signaling Pathway |
WikiPathways |
WP3408 |
Evolocumab Mechanism |
WikiPathways |
WP176 |
Folate Metabolism |
WikiPathways |
WP428 |
Wnt Signaling Pathway |
WikiPathways |
WP2011 |
SREBF and miR33 in cholesterol and lipid homeostasis |
WikiPathways |
WP3601 |
Composition of Lipid Particles |
WikiPathways |
h_fxrPathway |
FXR and LXR Regulation of Cholesterol Metabolism |
BioCarta |
h_LDLpathway |
Low-density lipoprotein (LDL) pathway during atherogenesis |
BioCarta |
h_s1pPathway |
SREBP control of lipid synthesis, |
BioCarta |
UMLS CUI | UMLS Term |
---|---|
C0004153 |
Atherosclerosis |
C0007222 |
Cardiovascular Diseases |
C0010068 |
Coronary Heart Disease |
C0015695 |
Fatty Liver |
C0020443 |
Hypercholesterolemia |
C0020445 |
Hypercholesterolemia, Familial |
C0020473 |
Hyperlipidemia |
C0020507 |
Hyperplasia |
C0028754 |
Obesity |
C0162871 |
Aortic Aneurysm, Abdominal |
C0242339 |
Dyslipidemias |
C0400966 |
Non-Alcoholic Fatty Liver Disease |
C0745103 |
Hyperlipoproteinemia Type Iia |
C1956346 |
Coronary Artery Disease |
Tissue | Cell Type |
---|---|
testis |
Leydig cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22344199 |
Chazenbalk et al. |
2012 |
Abnormal Expression of Genes Involved in Inflammation, Lipid Metabolism, and Wnt Signaling in the Adipose Tissue of Polycystic Ovary Syndrome |
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
MMP2 |
4313 |
P08253 |
0.58 |
CANX |
821 |
P27824 |
0.63 |
HSP90B1 |
7184 |
P14625 |
0.63 |
USP2 |
9099 |
O75604 |
0.63 |
PDIA4 |
9601 |
P13667 |
0.63 |
IFT57 |
55081 |
Q9NWB7 |
0.63 |
PF4 |
5196 |
P02776 |
0.75 |
LRPAP1 |
4043 |
P30533 |
0.76 |
HSPA5 |
3309 |
P11021 |
0.83 |
LDLR |
3949 |
P01130 |
0.83 |
SNX17 |
9784 |
Q15036 |
0.85 |
LDLRAP1 |
26119 |
Q5SW96 |
0.85 |
APOB |
338 |
P04114 |
0.88 |
APOE |
348 |
P02649 |
0.88 |
DAB1 |
1600 |
O75553 |
0.95 |
CREBBP |
1387 |
Q92793 |
0.52 |
MAP4 |
4134 |
P27816 |
0.63 |
PRG2 |
5553 |
P13727 |
0.63 |
B3GNT2 |
10678 |
Q9NY97 |
0.63 |
GINM1 |
116254 |
Q9NU53 |
0.63 |
ZFP41 |
286128 |
Q8N8Y5 |
0.63 |
CBR3 |
874 |
O75828 |
0.72 |
FLT1 |
2321 |
P17948 |
0.72 |
PDIA3 |
2923 |
P30101 |
0.72 |
AP1M2 |
10053 |
Q9Y6Q5 |
0.74 |
CD36 |
948 |
P16671 |
0.75 |
DAB2 |
1601 |
P98082 |
0.75 |
MYLIP |
29116 |
Q8WY64 |
0.76 |
PCSK9 |
255738 |
Q8NBP7 |
0.90 |