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[1]
基因位置（人类） 染色体 12號染色體[2] 基因座 12q12 起始 40,196,744 bp[2] 终止 40,369,285 bp[2]
基因位置（小鼠） 染色体 小鼠15号染色体[3] 基因座 15|15 E3 起始 91,557,378 bp[3] 终止 91,700,323 bp[3]
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
物種	人類	小鼠
Entrez	120892	66725
Ensembl	ENSG00000188906	ENSMUSG00000036273
UniProt	Q5S007	Q5S006
mRNA​序列	​NM_198578	NM_025730
蛋白序列	NP_940980	NP_080006
基因位置​（UCSC）	Chr 12: 40.2 – 40.37 Mb	Chr 15: 91.56 – 91.7 Mb
PubMed​查找	[4]	[5]
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

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

外部链接

• GeneReviews/NCBI/NIH/UW entry on LRRK2-Related Parkinson Disease （页面存档备份，存于互联网档案馆）
• 醫學主題詞表（MeSH）：LRRK2+protein,+human