Protein Description

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

No databases found.

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