LDLR

low density lipoprotein receptor

General Information

Name	low density lipoprotein receptor
Alias	low-density lipoprotein receptor LDL receptor low-density lipoprotein receptor class A domain-containing protein 3
Gene_family	Low density lipoprotein receptors\|MicroRNA protein coding host genes
organism	Homo sapiens
entrez_id	3949
location	19p13.2
transcript_count	8
exon_count	19

Cross References

Location

by NCBI GRCh38.p14

Summary

Entrez The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which 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, May 2022]

Stringdb Low-density lipoprotein receptor; 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; Belongs to the LDLR family

nextProt 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.

Interactions

NCBI

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LDLR	BioGRID	LRP1B	GeneID	BioGRID	Negative Genetic
LDLR	BioGRID	PRNP	GeneID	BioGRID	Affinity Capture-MS
LDLR	BioGRID	TGOLN2	GeneID	BioGRID	Proximity Label-MS
LDLR	BioGRID	ACE2	GeneID	BioGRID	Proximity Label-MS
LDLR	BioGRID	TOP3B	GeneID	BioGRID	Affinity Capture-RNA
LDLR	BioGRID	TRIM67	GeneID	BioGRID	Affinity Capture-MS
LDLR	BioGRID	WEE2-AS1	GeneID	BioGRID	Protein-RNA
LDLR	BioGRID	CUL3	GeneID	BioGRID	Affinity Capture-MS
LDLR	BioGRID	RIT1	GeneID	BioGRID	Negative Genetic
LDLR	BioGRID	TMEM192	GeneID	BioGRID	Affinity Capture-MS

Showing 1 to 10 of 424 entries

StringDB

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LDLR	APPL1	0	0	66	200	1	1
LDLR	AP4M1	0	0	405	405	1	1
LDLR	RLN1	0	0	322	321	1	1
LDLR	BDP1	0	0	294	352	1	1
LDLR	CYP7B1	0	0	294	312	1	1
LDLR	APOH	420	540	277	801	1	1
LDLR	NPC1	0	0	464	489	1	2
LDLR	CES3	0	0	386	386	1	1
LDLR	NCAN	0	0	234	234	1	1
LDLR	MMP17	0	0	108	171	1	1

Showing 1 to 10 of 1,381 entries

Ontologies

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GO:0001540	Molecular Function	amyloid-beta binding	enables	ISS
GO:0001618	Molecular Function	virus receptor activity	enables	IEA
GO:0001920	Biological Process	negative regulation of receptor recycling	involved_in	IDA
GO:0002020	Molecular Function	protease binding	enables	IPI
GO:0005041	Molecular Function	low-density lipoprotein particle receptor activity	enables	IBA
GO:0005041	Molecular Function	low-density lipoprotein particle receptor activity	enables	IC
GO:0005041	Molecular Function	low-density lipoprotein particle receptor activity	enables	IDA
GO:0005041	Molecular Function	low-density lipoprotein particle receptor activity	enables	IMP
GO:0005041	Molecular Function	low-density lipoprotein particle receptor activity	enables	TAS
GO:0005509	Molecular Function	calcium ion binding	enables	IEA

Showing 1 to 10 of 85 entries

Pathways

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Bile acids synthesis and enterohepatic circulation (WP4389)	WikiPathways	WP4389_r123503
Cargo recognition for clathrin-mediated endocytosis	Reactome	R-HSA-8856825
Cholestasis (WP5238)	WikiPathways	WP5238_r123341
Chylomicron clearance	Reactome	R-HSA-8964026
Clathrin-mediated endocytosis	Reactome	R-HSA-8856828
DNA damage response (only ATM dependent) (WP710)	WikiPathways	WP710_r116542
Evolocumab mechanism to reduce LDL cholesterol (WP3408)	WikiPathways	WP3408_r118453
Familial hyperlipidemia type 1 (WP5108)	WikiPathways	WP5108_r120390
Familial hyperlipidemia type 2 (WP5109)	WikiPathways	WP5109_r120391
Familial hyperlipidemia type 3 (WP5110)	WikiPathways	WP5110_r120392

Showing 1 to 10 of 36 entries

Transcripts

Accession	Version	MolecularType	Name	NCBI	Comments
NM_000527	5	mRNA	transcript variant 1	NC_000019	Reference
NM_001195798	2	mRNA	transcript variant 2	NC_000019	Reference
XM_011528010	3	mRNA	transcript variant X1	NC_000019	Reference
NM_001195803	2	mRNA	transcript variant 6	NC_000019	Reference
NM_001195800	2	mRNA	transcript variant 4	NC_000019	Reference
NM_001195799	2	mRNA	transcript variant 3	NC_000019	Reference
XM_047438831	1	mRNA	transcript variant X2	NC_000019	Reference
NM_001406861	1	mRNA	transcript variant 7	NC_000019	Reference