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维基百科

LRRK2

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克隆氏症危险性增高相关。

震顫素
已知的結構
PDB直系同源搜索: PDBe RCSB
識別號
别名LRRK2;, AURA17, DARDARIN, PARK8, RIPK7, ROCO2, leucine-rich repeat kinase 2, leucine rich repeat kinase 2
外部IDOMIM:609007 MGI:1913975 HomoloGene:18982 GeneCards:LRRK2
EC number2.7.11.1
相關疾病
帕金森氏症、​autosomal dominant Parkinson disease 8、​帕金森氏症[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]
RNA表达模式


查阅更多表达数据
直系同源
物種人類小鼠
Entrez
Ensembl
UniProt
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 MbChr 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

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细胞凋亡

参考文献

  1. ^ 與震顫素相關的疾病;在維基數據上查看/編輯參考. 
  2. ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000188906 - Ensembl, May 2017
  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. 

外部链接

lrrk2, 富亮氨酸重复激酶2, 英語, leucine, rich, repeat, kinase, 又叫震顫素, 英語, dardarin, 在人类是由park8基因编码的一个酶, 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, 震顫素已知的結構pdb直系同源搜索, pdbe, rcsbpdbid列表2zej, 3d6t識別號别名, aura17, dardarin, park8, ripk7, roco2, leucine, rich, repeat, kinase. 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 震顫素已知的結構PDB直系同源搜索 PDBe RCSBPDBID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IDOMIM 609007 MGI 1913975 HomoloGene 18982 GeneCards LRRK2EC number2 7 11 1相關疾病帕金森氏症 autosomal dominant Parkinson disease 8 帕金森氏症 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 membrane 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 exploration behavior 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 nucleusSources Amigo QuickGO直系同源物種人類小鼠Entrez12089266725EnsemblENSG00000188906ENSMUSG00000036273UniProtQ5S007Q5S006mRNA 序列 NM 198578NM 025730蛋白序列NP 940980NP 080006基因位置 UCSC Chr 12 40 2 40 37 MbChr 15 91 56 91 7 MbPubMed 查找 4 5 維基數據檢視 編輯人類檢視 編輯小鼠功能 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 取自 https zh wikipedia org w index php title LRRK2 amp oldid 64165120, 维基百科,wiki,书籍,书籍,图书馆,

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