InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LDLR

Summary

InnateDB Protein

IDBP-583585.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LDLR

Protein Name

low density lipoprotein receptor

Synonyms

FH; FHC; LDLCQ2;

Species

Homo sapiens

Ensembl Protein

ENSP00000454071

InnateDB Gene

IDBG-28808 (LDLR)

Protein Structure

UniProt Annotation

Function

Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. In case of HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.

Subcellular Localization

Cell membrane; Single-pass type I membrane protein. Endomembrane system; Single-pass type I membrane protein. Membrane, clathrin-coated pit; Single-pass type I membrane protein. Golgi apparatus. Early endosome. Late endosome. Cell surface. Lysosome. Note=Found distributed from the plasma membrane to intracellular compartments. Localizes to the Golgi apparatus, early and late endosomes/lysosomes and cell surface in the presence of PCSK9.

Disease Associations

Familial hypercholesterolemia (FH) [MIM:143890]: Common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). {ECO:0000269PubMed:10090484, ECO:0000269PubMed:10206683, ECO:0000269PubMed:10422803, ECO:0000269PubMed:10447263, ECO:0000269PubMed:10660340, ECO:0000269PubMed:10882754, ECO:0000269PubMed:10978268, ECO:0000269PubMed:10980548, ECO:0000269PubMed:11298688, ECO:0000269PubMed:1446662, ECO:0000269PubMed:1464748, ECO:0000269PubMed:17142622, ECO:0000269PubMed:1867200, ECO:0000269PubMed:19319977, ECO:0000269PubMed:22160468, ECO:0000269PubMed:2318961, ECO:0000269PubMed:2569482, ECO:0000269PubMed:2726768, ECO:0000269PubMed:3263645, ECO:0000269PubMed:3955657, ECO:0000269PubMed:7550239, ECO:0000269PubMed:7573037, ECO:0000269PubMed:7583548, ECO:0000269PubMed:7635461, ECO:0000269PubMed:7635482, ECO:0000269PubMed:7649546, ECO:0000269PubMed:7649549, ECO:0000269PubMed:8168830, ECO:0000269PubMed:8347689, ECO:0000269PubMed:8462973, ECO:0000269PubMed:8664907, ECO:0000269PubMed:8740918, ECO:0000269PubMed:9026534, ECO:0000269PubMed:9104431, ECO:0000269PubMed:9143924, ECO:0000269PubMed:9254862, ECO:0000269PubMed:9259195, ECO:0000269PubMed:9452094, ECO:0000269PubMed:9452095, ECO:0000269PubMed:9452118, ECO:0000269PubMed:9654205, ECO:0000269PubMed:9678702, ECO:0000269PubMed:9852677, ECO:0000269Ref.66}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	34 [view]
Protein-Protein	32 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001948	glycoprotein binding
GO:0005041	low-density lipoprotein receptor activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0030169	low-density lipoprotein particle binding
GO:0030229	very-low-density lipoprotein particle receptor activity

Biological Process

GO:0001523	retinoid metabolic process
GO:0006629	lipid metabolic process
GO:0006897	endocytosis
GO:0006898	receptor-mediated endocytosis
GO:0007603	phototransduction, visible light
GO:0008203	cholesterol metabolic process
GO:0010867	positive regulation of triglyceride biosynthetic process
GO:0010899	regulation of phosphatidylcholine catabolic process
GO:0015914	phospholipid transport
GO:0016032	viral process
GO:0030299	intestinal cholesterol absorption
GO:0030301	cholesterol transport
GO:0034383	low-density lipoprotein particle clearance
GO:0042157	lipoprotein metabolic process
GO:0042159	lipoprotein catabolic process
GO:0042632	cholesterol homeostasis
GO:0044281	small molecule metabolic process
GO:0070508	cholesterol import
GO:2000188	regulation of cholesterol homeostasis

Cellular Component

GO:0005764	lysosome
GO:0005768	endosome
GO:0005769	early endosome
GO:0005770	late endosome
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0005905	coated pit
GO:0009897	external side of plasma membrane
GO:0009986	cell surface
GO:0010008	endosome membrane
GO:0016020	membrane
GO:0030669	clathrin-coated endocytic vesicle membrane
GO:0034362	low-density lipoprotein particle
GO:0043235	receptor complex

Protein Structure and Domains

PDB ID

InterPro

IPR000033 LDLR class B repeat
IPR000742 Epidermal growth factor-like domain
IPR001881 EGF-like calcium-binding domain
IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
IPR009030 Insulin-like growth factor binding protein, N-terminal

PFAM

PF00058
PF00008
PF07645
PF00057

PRINTS

PR00261

PIRSF

SMART

SM00135
SM00181
SM00179
SM00192

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt