LRRK2

震顫素
已知的結構
PDB	直系同源搜尋: PDBe RCSB
PDBID列表
	2ZEJ、3D6T
識別號
別名	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（人類）
染色體	12號染色體
終止	40,369,285 bp
基因位置（小鼠）
染色體	小鼠15號染色體
終止	91,700,323 bp
RNA表現模式
	; ;
	查閱更多表現資料
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; • 相同蛋白質結合; • GTPase activity; • syntaxin-1 binding; • 蛋白質絲胺酸/蘇胺酸激酶活性; • 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; • 血漿蛋白結合; • 激酶活性; • actin binding; • magnesium ion binding;
細胞組分	• cytoplasmic vesicle; • 核內體; • 外排體; • Wnt signalosome; • neuronal cell body; • 反式高基網狀結構; • mitochondrial membranes; • 突觸; • 細胞質; • mitochondrial outer membrane; • synaptic vesicle membrane; • 細胞本體; • 內質網; • 細胞膜; • 微絨毛; • 粒線體基質; • dendrite cytoplasm; • 生長錐; • cell projection; • 樹突; • 溶體; • neuron projection; • Golgi-associated vesicle; • 粒線體; • mitochondrial inner membrane; • autolysosome; • 末梢神經; • 胞內; • 膜; • 脂筏模型; • 軸突; • amphisome; • multivesicular body, internal vesicle; • 突觸小泡; • 包涵體; • 細胞連接; • cytoplasmic side of mitochondrial outer membrane; • 細胞質基質; • 高基氏體; • postsynapse; • 細胞外空間; • 細胞核; • 細胞內膜結合胞器; • 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; • 探究行為; • 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; • 細胞分化; • 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; • 精子發生; • 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
	維基資料
檢視/編輯人類	檢視/編輯小鼠

LRRK2，（多白胺酸重複激酶2（英語：Leucine-rich repeat kinase 2），又叫震顫素（英語：dardarin）），在人類是由PARK8基因編碼的一個酶。LRRK2是多白胺酸重複激酶家族的一個成員。這個基因的變異與帕金森氏症和克隆氏症危險性增高相關。

功能編輯

LRRK2基因編碼的蛋白擁有一個犰狳重複（英語：Armadillo repeat）區域、一個錨蛋白重複（英語：Ankyrin repeat）區域、一個多白胺酸重複結構域、一個激酶結構域、一個RAS結構域、一個鳥苷三磷酸酶（英語：GTPase）結構域和一個WD40重複（英語：WD40 repeat）結構域。此蛋白大部分存在於細胞質中，但也與粒線體外膜結合。

LRRK2與Parkin連接酶C端RING(Really Interesting New Gene)指結構域有相互作用，而Parkin與LRRK2的COR結構域有相互作用。突變型LRRK2的表現誘導成神經細胞瘤（英語：Neuroblastoma）和小鼠大腦皮質神經元的細胞凋亡。

參考文獻編輯

^ 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.

外部連結編輯

[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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LRRK2

功能 編輯

參考文獻 編輯

外部連結 編輯

功能編輯

參考文獻編輯

外部連結編輯