LRRK2

LRRK2(Leucine-rich repeat kinase 2)는 인간에서 암호화되는 대규모 다기능 키나제 효소이다. LRRK2 유전자에 의해. LRRK2는 류신이 풍부한 반복 키나제 계열에 속한다. 이 유전자의 변종은 파킨슨병 및 크론병의 위험 증가와 관련이 있다.

LRRK2
사용 가능한 구조 PDB 동원체 검색: PDBe RCSB PDB ID 코드 목록 2ZEJ, 3D6T
식별자
다른 이름	LRRK2, AURA17, DARDARIN, PARK8, RIPK7, ROCO2, leucine-rich repeat kinase 2, leucine rich repeat kinase 2
외부 ID	OMIM: 609007 MGI: 1913975 HomoloGene: 18982 GeneCards: LRRK2
EC 번호	2.7.11.1
유전자 위치 (인간) 염색체 12번 염색체 자리 12q12 시작 40,196,744 bp 끝 40,369,285 bp
유전자 위치 (쥐) 염색체 15번 염색체 (쥐) 자리 15|15 E3 시작 91,557,378 bp 끝 91,700,323 bp
RNA 발현 패턴 Bgee 인간 쥐(동원체) 최상위 발현 buccal mucosa cell 단핵구 lower lobe of lung 혈액 upper lobe of lung upper lobe of left lung 오른허파 아킬레스건 과립구 내장가슴막 최상위 발현 과립구 human kidney 근위 세뇨관 left lung left lung lobe right kidney superior frontal gyrus lumbar spinal ganglion 비장 오른허파 추가 참조 발현 데이터 BioGPS 추가 참조 발현 데이터
유전자 온톨로지 분자 함수 protein homodimerization activity signaling receptor complex adaptor activity clathrin binding co-receptor binding transferase activity GTPase activator activity protein kinase activity protein kinase A binding peroxidase inhibitor activity SNARE binding nucleotide binding identical protein binding GTPase activity syntaxin-1 binding protein serine/threonine kinase activity tubulin binding transmembrane transporter binding microtubule binding MAP kinase kinase activity GTP binding ATP binding GTP-dependent protein kinase activity beta-catenin destruction complex binding 단백질 결합 kinase activity actin binding magnesium ion binding 세포 성분 cytoplasmic vesicle 엔도솜 엑소좀 Wnt signalosome neuronal cell body trans-Golgi network mitochondrial membranes 연접 세포질 mitochondrial outer membrane synaptic vesicle membrane 세포체 소포체 세포막 microvillus 미토콘드리아 기질 dendrite cytoplasm growth cone cell projection 수상돌기 리소좀 neuron projection Golgi-associated vesicle 미토콘드리아 mitochondrial inner membrane autolysosome terminal bouton intracellular anatomical structure 세포막 지질뗏목 축삭 amphisome multivesicular body, internal vesicle 시냅스 소포 inclusion body 세포연접 cytoplasmic side of mitochondrial outer membrane 세포액 골지체 postsynapse 세포 바깥쪽 세포핵 intracellular membrane-bounded organelle caveola neck endoplasmic reticulum exit site glutamatergic synapse presynaptic cytosol ribonucleoprotein complex 생물학적 과정 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 오토파지 neuromuscular junction development 인산화 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 단백질 인산화 regulation of synaptic transmission, glutamatergic 흥분성 시냅스후 전위 negative regulation of hydrogen peroxide-induced cell death regulation of dopamine receptor signaling pathway regulation of membrane potential protein autophosphorylation 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 세포 분화 세포내이입 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 spermatogenesis 유전자 발현의 조절 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 출처: Amigo / QuickGO
동원체 종 인간 쥐 앙트레 120892 66725 앙상블 ENSG00000188906 ENSMUSG00000036273 유니프롯 Q5S007 Q5S006 RefSeq (mRNA) NM_198578 NM_025730 RefSeq(단백질) NP_940980 NP_080006 위치(UCSC) Chr 12: 40.2 – 40.37 Mb Chr 15: 91.56 – 91.7 Mb PubMed 검색
위키데이터
인간 보기/편집 쥐 보기/편집

기능

LRRK2 유전자는 아르마딜로 반복(ARM) 영역, 안키린 반복(ANK) 영역, 류신 풍부 반복(LRR) 도메인, 키나제 도메인, RAS 도메인, GTPase 도메인 및 WD40 도메인을 갖는 단백질을 코딩한다. 이 단백질은 주로 세포질에 존재하지만 미토콘드리아 외막과도 결합한다.

LRRK2는 파킨의 C-말단 R2 RING 핑거 도메인과 상호작용하고, 파킨은 LRRK2의 COR 도메인과 상호작용한다. 돌연변이 LRRK2의 발현은 신경모세포종 세포와 마우스 피질 뉴런에서 세포사멸 세포 사멸을 유도했다.

상염색체 우성 파킨슨병과 관련된 LRRK2 돌연변이의 발현은 생체 내 및 배양된 뉴런에서 수지상 나무의 단축 및 단순화를 유발한다. 이는 부분적으로 거대자가포식의 변화에 ​​의해 매개되며, 자가포식 단백질 LC3의 단백질 키나제 A 조절에 의해 예방될 수 있다. G2019S 및 R1441C 돌연변이는 시냅스 후 칼슘 불균형을 유발하여 미토파지에 의해 수상돌기에서 과도한 미토콘드리아 제거를 초래한다. LRRK2는 또한 샤페론 매개 자가포식의 기질이기도 하다.

외부 링크

• GeneReviews/NCBI/NIH/UW entry on LRRK2-Related Parkinson Disease
• 의학주제표목 (MeSH)의 LRRK2+protein,+human