低密度脂蛋白受體

低密度脂蛋白受體
低密度脂蛋白受體
	PDB rendering based on 1ajj.
有效结构
PDB	直系同源检索：PDBe, RCSB
PDB查询代码列表
	1AJJ, 1D2J, 1F5Y, 1F8Z, 1HJ7, 1HZ8, 1I0U, 1IJQ, 1LDL, 1LDR, 1LRX, 1N7D, 1XFE, 2FCW, 2KRI, 2LGP, 2M7P, 2MG9, 2W2M, 2W2N, 2W2O, 2W2P, 2W2Q, 3BPS, 3GCW, 3GCX, 3M0C, 3P5B, 3P5C, 3SO6
标识
代号	LDLR; FH; FHC; LDLCQ2
扩展标识	遗传学：606945 鼠基因：96765 同源基因：55469 ChEMBL: 3311 GeneCards: LDLR Gene
基因本体论描述
分子功能	· glycoprotein binding; · low-density lipoprotein receptor activity; · calcium ion binding; · protein binding; · low-density lipoprotein particle binding; · very-low-density lipoprotein particle receptor activity;
细胞成分	· lysosome; · early endosome; · late endosome; · Golgi apparatus; · plasma membrane; · integral component of plasma membrane; · coated pit; · external side of plasma membrane; · cell surface; · endosome membrane; · membrane; · clathrin-coated endocytic vesicle membrane; · low-density lipoprotein particle; · receptor complex;
生物过程	· retinoid metabolic process; · lipid metabolic process; · endocytosis; · receptor-mediated endocytosis; · phototransduction, visible light; · cholesterol metabolic process; · positive regulation of triglyceride biosynthetic process; · regulation of phosphatidylcholine catabolic process; · phospholipid transport; · viral process; · intestinal cholesterol absorption; · cholesterol transport; · low-density lipoprotein particle clearance; · lipoprotein metabolic process; · lipoprotein catabolic process; · cholesterol homeostasis; · small molecule metabolic process; · cholesterol import;
	Sources: Amigo / QuickGO
RNA表达模式
	更多表达数据
直系同源体
物种	人类
Entrez	3949
Ensembl	ENSG00000130164
UniProt	P01130
mRNA序列	NM_000527
蛋白序列	NP_000518
基因位置	Chr 19:; 11.2 – 11.24 Mb
PubMed查询	[1]
	查; 论; 编;

低密度脂蛋白受體（Low-Density Lipoprotein (LDL) Receptor），又稱LDL受體，為一種膜鑲嵌式蛋白質，全長有839個胺基酸（扣掉21胺基酸長的訊息肽）^[1]。本受體調控低密度脂蛋白（LDL）的胞吞作用。此種受體專門辨認LDL顆粒上的B100脂蛋白，也可辨認乳糜微粒殘體及中間密度脂蛋白（IDL，極低密度脂蛋白的殘體）上的Apo E。人體LDL受體的基因編碼為LDLR基因^[2]^[3]。屬於低密度脂蛋白受體家族（英语：Low density lipoprotein receptor gene family）^[4]。

Michael S. Brown和Joseph L. Goldstein即因發現LDL受體，以及其與膽固醇代謝的關係^[5]，而獲得1985年諾貝爾生理醫學獎^[6]。

臨床價值

LDL與粥狀動脈硬化有直接的關係，可能會導致心血管疾病。

功能

LDL-膽固醇會和銜接蛋白（英语：adaptin）（adaptin）結合，並在細胞膜中格形蛋白（clathrin）圍住的孔洞中，與LDL受體結合成「LDL受體複合物」。此時，格形蛋白會將LDL-膽固醇吞噬入細胞內，形成囊泡。

突變

LDLR途径

LDL受體的突變大約分為五大類：^[7]

1类: LDLR没有完全合成.
2类: LDLR没有正常地从内质网转运至高尔基体并在细胞表面表达。
3类: LDLR没有正常地在细胞表面与LDL结合，因为载脂蛋白B100（R3500Q）或LDL-R内部有缺陷。
4类: LDLR与LDL结合时没有正常地聚集在网格蛋白包被进行受体介导的内吞作用（途径中的步骤2）。
5类: LDLR没有被正常地回收至细胞表面（途径中的步骤5）。

參考文獻

^ Südhof TC, Goldstein JL, Brown MS, Russell DW. The LDL receptor gene: a mosaic of exons shared with different proteins. Science. May 1985, 228 (4701): 815–22. PMID 2988123. doi:10.1126/science.2988123.
^ Francke U, Brown MS, Goldstein JL. Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. Proc. Natl. Acad. Sci. U.S.A. May 1984, 81 (9): 2826–30. PMC 345163  . PMID 6326146. doi:10.1073/pnas.81.9.2826.
^ 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. December 1985, 82 (24): 8567–71. PMC 390958  . PMID 3866240. doi:10.1073/pnas.82.24.8567.
^ Nykjaer A, Willnow TE. The low-density lipoprotein receptor gene family: a cellular Swiss army knife?. Trends Cell Biol. June 2002, 12 (6): 273–80 [2015-01-26]. PMID 12074887. doi:10.1016/S0962-8924(02)02282-1. （原始内容存档于2018-05-01）.
^ Brown MS, Goldstein JL. How LDL Receptors Influence Cholesterol and Atherosclerosis. Scientific American. 1984, 251 (3): 52–60. PMID 6390676. doi:10.1038/scientificamerican0984-52.
^ The Nobel Prize in Physiology or Medicine 1985 (新闻稿). The Royal Swedish Academy of Science. 1985 [2010-07-01]. （原始内容存档于2011-01-02）.
^ Low Density Lipoprotein Receptor. LOVD v.1.1.0 - Leiden Open Variation Database. [2015-01-26]. （原始内容存档于2016-01-28）.

延伸閱讀

Brown MS, Goldstein JL. Receptor-mediated endocytosis: insights from the lipoprotein receptor system.. Proc. Natl. Acad. Sci. U.S.A. 1979, 76 (7): 3330–7. PMC 383819  . PMID 226968. doi:10.1073/pnas.76.7.3330.
Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.. Hum. Mutat. 1993, 1 (6): 445–66. PMID 1301956. doi:10.1002/humu.1380010602.
Fogelman AM, Van Lenten BJ, Warden C; et al. Macrophage lipoprotein receptors.. J. Cell Sci. Suppl. 1989, 9: 135–49. PMID 2855802.
Barrett PH, Watts GF. Shifting the LDL-receptor paradigm in familial hypercholesterolemia: novel insights from recent kinetic studies of apolipoprotein B-100 metabolism.. Atherosclerosis. Supplements. 2002, 2 (3): 1–4. PMID 11923121. doi:10.1016/S1567-5688(01)00012-5.
May P, Bock HH, Herz J. Integration of endocytosis and signal transduction by lipoprotein receptors.. Sci. STKE. 2003, 2003 (176): PE12. PMID 12671190. doi:10.1126/stke.2003.176.pe12.
Gent J, Braakman I. Low-density lipoprotein receptor structure and folding.. Cell. Mol. Life Sci. 2004, 61 (19-20): 2461–70. PMID 15526154. doi:10.1007/s00018-004-4090-3.

外部連結

[pmid2988123-1] Südhof TC, Goldstein JL, Brown MS, Russell DW. The LDL receptor gene: a mosaic of exons shared with different proteins. Science. May 1985, 228 (4701): 815–22. PMID 2988123. doi:10.1126/science.2988123.

[pmid6326146-2] Francke U, Brown MS, Goldstein JL. Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. Proc. Natl. Acad. Sci. U.S.A. May 1984, 81 (9): 2826–30. PMC 345163  . PMID 6326146. doi:10.1073/pnas.81.9.2826.

[pmid3866240-3] 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. December 1985, 82 (24): 8567–71. PMC 390958  . PMID 3866240. doi:10.1073/pnas.82.24.8567.

[pmid12074887-4] Nykjaer A, Willnow TE. The low-density lipoprotein receptor gene family: a cellular Swiss army knife?. Trends Cell Biol. June 2002, 12 (6): 273–80 [2015-01-26]. PMID 12074887. doi:10.1016/S0962-8924(02)02282-1. （原始内容存档于2018-05-01）.

[Brown_Goldstein_1984-5] Brown MS, Goldstein JL. How LDL Receptors Influence Cholesterol and Atherosclerosis. Scientific American. 1984, 251 (3): 52–60. PMID 6390676. doi:10.1038/scientificamerican0984-52.

[6] The Nobel Prize in Physiology or Medicine 1985 (新闻稿). The Royal Swedish Academy of Science. 1985 [2010-07-01]. （原始内容存档于2011-01-02）.

[7] Low Density Lipoprotein Receptor. LOVD v.1.1.0 - Leiden Open Variation Database. [2015-01-26]. （原始内容存档于2016-01-28）.

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