LRRK2

震顫素
已知的結構
PDB	直系同源搜索: PDBe RCSB
PDBID列表
	2ZEJ、3D6T
識別號
别名	LRRK2；, AURA17, DARDARIN, PARK8, RIPK7, ROCO2, leucine-rich repeat kinase 2, leucine rich repeat kinase 2
外部ID	OMIM：609007 MGI：1913975 HomoloGene：18982 GeneCards：LRRK2
EC number	2.7.11.1
相關疾病
	帕金森氏症、autosomal dominant Parkinson disease 8、帕金森氏症、young-onset Parkinson disease、hereditary late onset Parkinson disease
基因位置（人类）
染色体	12號染色體
终止	40,369,285 bp
基因位置（小鼠）
染色体	小鼠15号染色体
终止	91,700,323 bp
RNA表达模式
	; ;
	查阅更多表达数据
基因本體
分子功能	• protein homodimerization activity; • signaling receptor complex adaptor activity; • clathrin binding; • co-receptor binding; • 轉移酶活性; • GTPase activator activity; • 蛋白激酶活性; • protein kinase A binding; • peroxidase inhibitor activity; • SNARE binding; • 核苷酸結合; • 相同蛋白质结合; • GTPase activity; • syntaxin-1 binding; • 蛋白质丝氨酸/苏氨酸激酶活性; • tubulin binding; • transmembrane transporter binding; • microtubule binding; • MAP kinase kinase activity; • GTP binding; • ATP結合; • GTP-dependent protein kinase activity; • beta-catenin destruction complex binding; • 血浆蛋白结合; • 激酶活性; • actin binding; • magnesium ion binding;
細胞組分	• cytoplasmic vesicle; • 核内体; • 外排體; • Wnt signalosome; • neuronal cell body; • 反式高尔基网状结构; • mitochondrial membranes; • 突触; • 細胞質; • mitochondrial outer membrane; • synaptic vesicle membrane; • 細胞本體; • 内质网; • 细胞膜; • 微绒毛; • 线粒体基质; • dendrite cytoplasm; • 生长锥; • cell projection; • 树突; • 溶酶体; • neuron projection; • Golgi-associated vesicle; • 線粒體; • mitochondrial inner membrane; • autolysosome; • 末梢神經; • 胞內; • 膜; • 脂筏模型; • 轴突; • amphisome; • multivesicular body, internal vesicle; • 突觸小泡; • 包涵体; • 细胞连接; • cytoplasmic side of mitochondrial outer membrane; • 细胞质基质; • 高尔基体; • postsynapse; • 細胞外空間; • 细胞核; • 細胞內膜結合細胞器; • caveola neck; • endoplasmic reticulum exit site; • glutamatergic synapse; • presynaptic cytosol; • 核糖核蛋白;
生物學過程	• lysosome organization; • response to oxidative stress; • cellular response to dopamine; • regulation of autophagy; • positive regulation of autophagy; • positive regulation of dopamine receptor signaling pathway; • regulation of neuroblast proliferation; • intracellular distribution of mitochondria; • negative regulation of protein processing; • negative regulation of protein processing involved in protein targeting to mitochondrion; • protein localization to mitochondrion; • positive regulation of canonical Wnt signaling pathway; • 自噬; • neuromuscular junction development; • 磷酸化; • positive regulation of protein binding; • regulation of branching morphogenesis of a nerve; • mitochondrion localization; • positive regulation of protein autoubiquitination; • regulation of synaptic vesicle transport; • positive regulation of protein phosphorylation; • regulation of kidney size; • regulation of synaptic vesicle exocytosis; • positive regulation of MAP kinase activity; • peptidyl-threonine phosphorylation; • MAPK cascade; • Wnt signalosome assembly; • protein phosphorylation; • regulation of synaptic transmission, glutamatergic; • 興奮性動作電位; • negative regulation of hydrogen peroxide-induced cell death; • regulation of dopamine receptor signaling pathway; • regulation of membrane potential; • 自體磷酸化; • regulation of mitochondrial fission; • regulation of neuron maturation; • reactive oxygen species metabolic process; • positive regulation of programmed cell death; • regulation of neuron death; • regulation of mitochondrial depolarization; • cellular response to oxidative stress; • negative regulation of late endosome to lysosome transport; • intracellular signal transduction; • regulation of lysosomal lumen pH; • negative regulation of GTPase activity; • locomotory exploration behavior; • Golgi organization; • canonical Wnt signaling pathway; • neuron projection morphogenesis; • positive regulation of protein ubiquitination; • regulation of canonical Wnt signaling pathway; • 探究行为; • cellular response to organic cyclic compound; • tangential migration from the subventricular zone to the olfactory bulb; • regulation of protein kinase A signaling; • calcium-mediated signaling; • negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation; • negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway; • positive regulation of proteasomal ubiquitin-dependent protein catabolic process; • negative regulation of neuron death; • negative regulation of protein targeting to mitochondrion; • peptidyl-serine phosphorylation; • determination of adult lifespan; • negative regulation of excitatory postsynaptic potential; • negative regulation of protein phosphorylation; • neuron death; • GTP metabolic process; • negative regulation of autophagosome assembly; • olfactory bulb development; • cellular response to starvation; • regulation of dendritic spine morphogenesis; • 细胞分化; • 內吞作用; • negative regulation of protein binding; • mitochondrion organization; • cellular response to manganese ion; • negative regulation of macroautophagy; • regulation of locomotion; • positive regulation of GTPase activity; • regulation of retrograde transport, endosome to Golgi; • regulation of CAMKK-AMPK signaling cascade; • positive regulation of histone deacetylase activity; • endoplasmic reticulum organization; • 精子发生; • 基因調節; • negative regulation of neuron projection development; • striatum development; • regulation of protein stability; • positive regulation of nitric-oxide synthase biosynthetic process; • regulation of ER to Golgi vesicle-mediated transport; • protein localization to endoplasmic reticulum exit site; • neuron projection arborization; • regulation of synaptic vesicle endocytosis; • positive regulation of synaptic vesicle endocytosis; • positive regulation of microglial cell activation; • protein import into nucleus;
	Sources:Amigo / QuickGO
直系同源
	120892
	66725
	ENSG00000188906
	ENSMUSG00000036273
	Q5S007
	Q5S006
	NM_198578
	NM_025730
	NP_940980
	NP_080006
	維基數據
檢視/編輯人類	檢視/編輯小鼠

LRRK2，（富亮氨酸重复激酶2（英語：Leucine-rich repeat kinase 2），又叫震顫素（英語：dardarin）），在人类是由PARK8基因编码的一个酶。LRRK2是富亮氨酸重复激酶家族的一个成员。这个基因的变异与帕金森氏症和克隆氏症危险性增高相关。

功能[编辑]

LRRK2基因编码的蛋白拥有一个犰狳重复（英语：Armadillo repeat）区域、一个锚蛋白重复（英语：Ankyrin repeat）区域、一个富亮氨酸重复结构域、一个激酶结构域、一个RAS结构域、一个鸟苷三磷酸酶（英语：GTPase）结构域和一个WD40重复（英语：WD40 repeat）结构域。此蛋白大部分存在于细胞质中，但也与線粒體外膜结合。

LRRK2与Parkin连接酶C端RING(Really Interesting New Gene)指结构域有相互作用，而Parkin与LRRK2的COR结构域有相互作用。突变型LRRK2的表达诱导成神经细胞瘤（英语：Neuroblastoma）和小鼠大脑皮质神經元的细胞凋亡。

参考文献[编辑]

^ 與震顫素相關的疾病；在維基數據上查看/編輯參考.
^ ^2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000188906 - Ensembl, May 2017
^ ^3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000036273 - Ensembl, May 2017
^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

外部链接[编辑]

[1] 與震顫素相關的疾病；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-2] 2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000188906 - Ensembl, May 2017

[refGRCm38Ensembl-3] 3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000036273 - Ensembl, May 2017

[4] Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

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