LRRK2

震颤素
已知的结构 PDB 直系同源搜索：PDBe RCSB PDBID列表 2ZEJ、3D6T
标识符
代号	LRRK2
扩展标识	OMIM：609007；MGI：1913975；HomoloGene：18982；GeneCards：LRRK2；OMA：LRRK2 - orthologs
EC编号	2.7.11.1
基因位置（人类） 染色体 12号染色体 基因座 12q12 起始 40,196,744 bp 终止 40,369,285 bp
基因位置（小鼠） 染色体 小鼠15号染色体 基因座 15|15 E3 起始 91,557,378 bp 终止 91,700,323 bp
RNA表达模式 Bgee 人类 小鼠（直系同源） Top expressed in buccal mucosa cell lower lobe of lung upper lobe of lung upper lobe of left lung right lung Top expressed in human kidney left lung left lung lobe right kidney lumbar spinal ganglion right lung 查阅更多表达数据 BioGPS 查阅更多表达数据
基因本体 分子功能 protein homodimerization activity signaling receptor complex adaptor activity clathrin binding co-receptor binding 转移酶活性 GTPase activator activity 蛋白激酶活性 protein kinase A binding peroxidase inhibitor activity SNARE binding 核苷酸结合 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结合 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 细胞组分 cytoplasmic vesicle 核内体 外排体 Wnt signalosome soma 反式高尔基网状结构 mitochondrial membranes 突触 细胞质 mitochondrial outer membrane synaptic vesicle membrane 细胞本体 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 线粒体 mitochondrial inner membrane autolysosome 末梢神经 胞内 膜 脂筏模型 轴突 amphisome multivesicular body, internal vesicle 突触小泡 包涵体 细胞连接 cytoplasmic side of mitochondrial outer membrane 细胞质基质 高尔基体 postsynapse 细胞外空间 细胞核 细胞内膜结合细胞器 caveola neck endoplasmic reticulum exit site glutamatergic synapse presynaptic cytosol 核糖核蛋白 生物学过程 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 兴奋性动作电位 negative regulation of hydrogen peroxide-induced cell death regulation of dopamine receptor signaling pathway regulation of membrane potential 自体磷酸化 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 内吞作用 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 基因调节 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 来源：Amigo / QuickGO
直系同源 物种 人类 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 Chr 12：40.2 – 40.37 Mb Chr 15：91.56 – 91.7 Mb PubMed查询
维基数据
查看/编辑人类 查看/编辑小鼠

LRRK2，（富亮氨酸重复激酶2（英语：Leucine-rich repeat kinase 2），又叫震颤素（英语：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区域、一个锚蛋白重复区域、一个富亮氨酸重复结构域、一个激酶结构域、一个RAS结构域、一个鸟苷三磷酸酶结构域和一个WD40重复结构域。此蛋白大部分存在于细胞质中，但也与线粒体外膜结合。

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和小鼠大脑皮质神经元的细胞凋亡。

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）
• 医学主题词表（MeSH）：LRRK2+protein,+human