InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: LDLR

Summary

InnateDB Gene

IDBG-28808.6

Last Modified

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

Gene Symbol

LDLR

Gene Name

low density lipoprotein receptor

Synonyms

FH; FHC; LDLCQ2

Species

Homo sapiens

Ensembl Gene

ENSG00000130164

Encoded Proteins

IDBP-28810

low density lipoprotein receptor

IDBP-372077

low density lipoprotein receptor

IDBP-583585

low density lipoprotein receptor

IDBP-601791

low density lipoprotein receptor

IDBP-583609

low density lipoprotein receptor

IDBP-592674

low density lipoprotein receptor

IDBP-589029

low density lipoprotein receptor

IDBP-589625

low density lipoprotein receptor

IDBP-599514

low density lipoprotein receptor

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 19:11089362-11133816

Strand

Forward strand

Band

p13.2

Transcripts

ENST00000252444	ENSP00000252444
ENST00000455727	ENSP00000397829
ENST00000558518	ENSP00000454071
ENST00000557933	ENSP00000453557
ENST00000560502
ENST00000557958
ENST00000535915	ENSP00000440520
ENST00000545707	ENSP00000437639
ENST00000558013	ENSP00000453346
ENST00000560467	ENSP00000453513
ENST00000558528
ENST00000560173
ENST00000559340	ENSP00000453696
ENST00000560628

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:0016021	integral component of membrane
GO:0030669	clathrin-coated endocytic vesicle membrane
GO:0034362	low-density lipoprotein particle
GO:0043235	receptor complex