LDLR

LDLR
Structures disponibles
PDB	Recherche d'orthologue: PDBe RCSB
Identifiants PDB
	1AJJ, 1D2J, 1F5Y, 1HJ7, 1HZ8, 1I0U, 1IJQ, 1LDL, 1LDR, 1N7D, 1XFE, 2FCW, 2KRI, 2LGP, 2W2M, 2W2N, 2W2O, 2W2P, 2W2Q, 3BPS, 3GCW, 3GCX, 3M0C, 3SO6, 2M7P, 2MG9, 3P5B, 3P5C, 4NE9
Identifiants
Aliases	LDLR
IDs externes	OMIM: 606945 MGI: 96765 HomoloGene: 55469 GeneCards: LDLR
Position du gène (Homme)
Chr.	Chromosome 19 humain
Fin	11,133,820 bp
Position du gène (Souris)
Chr.	Chromosome 9 (souris)
Fin	21,661,215 bp
Expression génétique
	Fortement exprimé dans
	lobe inférieur du poumon; ; right adrenal gland; ; right adrenal cortex; ; left adrenal gland; ; olfactory zone of nasal mucosa; ; left adrenal cortex; ; stromal cell of endometrium; ; upper lobe of lung; ; upper lobe of left lung; ; mucosa of urinary bladder;
	Fortement exprimé dans
	cumulus cell; ; nerf ischiatique; ; Ileal epithelium; ; gastrula; ; Caduque basale; ; aorte ascendante; ; endothelial cell of lymphatic vessel; ; stroma of bone marrow; ; otic placode; ; îlot de Langerhans;
	Plus de données d'expression de référence
	; ; ; ;
	Plus de données d'expression de référence
Gene Ontology
Fonction moléculaire	calcium liaison ionique; clathrin heavy chain binding; virus receptor activity; liaison protéique; liaison de protéase; identical protein binding; very-low-density lipoprotein particle receptor activity; low-density lipoprotein particle receptor activity; low-density lipoprotein particle binding; amyloid-beta binding;
Composant cellulaire	integral component of membrane; clathrin-coated endocytic vesicle membrane; endosome; late endosome; appareil de Golgi; membrane; receptor complex; membrane plasmique; partie apicale d'une cellule; integral component of plasma membrane; surface cellulaire; basolateral plasma membrane; early endosome; low-density lipoprotein particle; clathrin-coated pit; lysosome; PCSK9-LDLR complex; endosome membrane; external side of plasma membrane; milieu extracellulaire; endolysosome membrane; sorting endosome; intracellulaire; somatodendritic compartment;
Processus biologique	positive regulation of triglyceride biosynthetic process; regulation of phosphatidylcholine catabolic process; processus métabolique stéroidique; lipid transport; endocytose; processus métabolique lipidique; phospholipid transport; cholesterol transport; cholesterol metabolic process; lipoprotein catabolic process; intestinal cholesterol absorption; transport; pénétration virale; cholesterol homeostasis; viral process; positive regulation of gene expression; positive regulation of inflammatory response; lipoprotein metabolic process; cellular response to fatty acid; negative regulation of gene expression; organisation d'une membrane; cholesterol import; cellular response to low-density lipoprotein particle stimulus; receptor-mediated endocytosis involved in cholesterol transport; chylomicron remnant clearance; low-density lipoprotein particle clearance; endocytose à récepteur; phagocytose; mémoire à long terme; plasma lipoprotein particle clearance; high-density lipoprotein particle clearance; regulation of protein metabolic process; negative regulation of protein metabolic process; response to caloric restriction; negative regulation of astrocyte activation; regulation of cholesterol metabolic process; amyloid-beta clearance; amyloid-beta clearance by cellular catabolic process; negative regulation of microglial cell activation; positive regulation of lysosomal protein catabolic process; negative regulation of amyloid fibril formation; artery morphogenesis;
	Sources:Amigo / QuickGO
Orthologues
	3949
	16835
	ENSG00000130164
	ENSMUSG00000032193
	P01130
	P35951
NM_000527; NM_001195798; NM_001195799; NM_001195800; NM_001195802;
	NM_001195803
	NM_001252658; NM_001252659; NM_010700
	NP_000518; NP_001182727; NP_001182728; NP_001182729; NP_001182732
	NP_001239587; NP_001239588; NP_034830
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

Le LDLR ou récepteur des LDL est une protéine dont le gène est le LDLR situé sur le chromosome 19 humain^[5]. Les travaux de Joseph Goldstein et de Michael Brown sur ce récepteur leur ont valu le prix Nobel de physiologie ou médecine en 1985.

Structure et rôles

Il s'agit d'une glycoprotéine faisant 164 Kdaltons^[6].

Le PCSK9 favorise la dégradation de cette protéine, entraînant un ralentissement de celle du LDL cholestérol et une augmentation du taux sanguin de ce dernier^[7].

En médecine

Différentes mutations du gène provoquent une hypercholestérolémie familiale^[8]. Près de 1200 variants ont été identifiés, dont 80 % ayant des conséquences sur le taux de cholestérol^[9].

Les médicaments de type anti-PCSK9 augmentent le taux de LDLR, favorisant la dégradation du LDL cholestérol et abaissant le taux sanguin de ces derniers.

Notes et références

↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000130164 - Ensembl, May 2017
↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000032193 - Ensembl, May 2017
↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ Lindgren V, Luskey KL, Russell DW, Francke U, Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes, Proc Natl Acad Sci U S A, 1985;82:8567–8571
↑ Schneider WJ, Beisiegel U, Goldstein JL, Brown MS, Purification of the low density lipoprotein receptor, an acidic glycoprotein of 164,000 molecular weight, J Biol Chem, 1982;257:2664–2673
↑ Maxwell KN, Breslow JL, « Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype », Proc Natl Acad Sci U S A, 2004;101:7100-7105
↑ Hobbs HH, Brown MS, Goldstein JL, Molecular genetics of the LDL receptor gene in familial hypercholesterolemia, Hum Mutat, 1992;1:445–466
↑ Usifo E, Leigh SE, Whittall RA et al. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment, Ann Hum Genet, 2012;76:387–401

[refGRCh38Ensembl-1] {a b et c} GRCh38: Ensembl release 89: ENSG00000130164 - Ensembl, May 2017

[refGRCm38Ensembl-2] {a b et c} GRCm38: Ensembl release 89: ENSMUSG00000032193 - Ensembl, May 2017

[3] « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[4] « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[Lindgren_1985-5] Lindgren V, Luskey KL, Russell DW, Francke U, Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes, Proc Natl Acad Sci U S A, 1985;82:8567–8571

[Schneider_1982-6] Schneider WJ, Beisiegel U, Goldstein JL, Brown MS, Purification of the low density lipoprotein receptor, an acidic glycoprotein of 164,000 molecular weight, J Biol Chem, 1982;257:2664–2673

[Maxwell_2004-7] Maxwell KN, Breslow JL, « Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype », Proc Natl Acad Sci U S A, 2004;101:7100-7105

[Hobbs_1992-8] Hobbs HH, Brown MS, Goldstein JL, Molecular genetics of the LDL receptor gene in familial hypercholesterolemia, Hum Mutat, 1992;1:445–466

[Usifo_2012-9] Usifo E, Leigh SE, Whittall RA et al. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment, Ann Hum Genet, 2012;76:387–401

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