Матеріал з Вікіпедії — вільної енциклопедії.
PRKN
Ідентифікатори
Символи PRKN Зовнішні ІД
OMIM : 602544 MGI: 1355296 HomoloGene: 3355 GeneCards: PRKN
Пов'язані генетичні захворювання
рак підшлункової залози , autosomal recessive juvenile Parkinson disease 2 , young-onset Parkinson disease [ 1]
Онтологія гена Молекулярна функція
• phospholipase binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • SH3 domain binding • histone deacetylase binding • tubulin binding • cullin family protein binding • PDZ domain binding • heat shock protein binding • зв'язування з іоном металу • Hsp70 protein binding • kinase binding • enzyme binding • beta-catenin binding • zinc ion binding • GO:0001948, GO:0016582 protein binding • ubiquitin conjugating enzyme binding • protein kinase binding • chaperone binding • GO:0000975 transcription cis-regulatory region binding • GO:0050372 ubiquitin-protein transferase activity • F-box domain binding • ubiquitin binding • identical protein binding • actin binding • ubiquitin-specific protease binding • G protein-coupled receptor binding • ubiquitin protein ligase binding • transferase activity • GO:1904264, GO:1904822, GO:0090622, GO:0090302 ubiquitin protein ligase activity • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • GO:0032403 protein-containing complex binding
Клітинна компонента
• цитоплазма • гіалоплазма • мітохондрія • perinuclear region of cytoplasm • клітинне ядро • Тільця Леві • SCF ubiquitin ligase complex • aggresome • ендоплазматичний ретикулум • комплекс Ґольджі • Parkin-FBXW7-Cul1 ubiquitin ligase complex • ubiquitin ligase complex • LUBAC complex • presynapse • neuron projection • mitochondrion-derived vesicle • nuclear speck • GO:0009327 protein-containing complex
Біологічний процес
• GO:1904089 negative regulation of neuron apoptotic process • protein K29-linked ubiquitination • negative regulation of insulin secretion • ERAD pathway • positive regulation of mitochondrial fission • positive regulation of mitophagy in response to mitochondrial depolarization • GO:1903364 positive regulation of protein catabolic process • synaptic transmission, glutamatergic • positive regulation of tumor necrosis factor-mediated signaling pathway • neuron cellular homeostasis • regulation of protein ubiquitination • cellular response to toxic substance • modulation of chemical synaptic transmission • regulation of synaptic vesicle transport • навчення • protein monoubiquitination • synaptic transmission, dopaminergic • positive regulation of neurotransmitter uptake • regulation of glucose metabolic process • protein K6-linked ubiquitination • negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator • negative regulation of spontaneous neurotransmitter secretion • negative regulation by host of viral genome replication • positive regulation of DNA binding • macroautophagy • negative regulation of canonical Wnt signaling pathway • Unfolded Protein Response • aggresome assembly • proteasome-mediated ubiquitin-dependent protein catabolic process • regulation of dopamine secretion • zinc ion homeostasis • free ubiquitin chain polymerization • GO:0009373 regulation of transcription, DNA-templated • locomotory behavior • norepinephrine metabolic process • negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway • adult locomotory behavior • GO:0044267 protein metabolic process • negative regulation of cell death • GO:0001306 response to oxidative stress • protein K27-linked ubiquitination • negative regulation of gene expression • transcription, DNA-templated • response to endoplasmic reticulum stress • protein K11-linked ubiquitination • central nervous system development • negative regulation of oxidative stress-induced cell death • positive regulation of mitochondrial fusion • protein localization to mitochondrion • proteasomal protein catabolic process • cellular response to manganese ion • negative regulation of mitochondrial fusion • protein autoubiquitination • negative regulation of neuron death • GO:0033128 negative regulation of protein phosphorylation • negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway • negative regulation of primary amine oxidase activity • переляк • mitochondrial fission • regulation of mitochondrion organization • regulation of canonical Wnt signaling pathway • negative regulation of release of cytochrome c from mitochondria • protein stabilization • mitochondrion organization • protein polyubiquitination • GO:1901227 negative regulation of transcription by RNA polymerase II • GO:1904489 regulation of reactive oxygen species metabolic process • regulation of neurotransmitter secretion • positive regulation of protein linear polyubiquitination • protein K48-linked ubiquitination • dopamine uptake involved in synaptic transmission • regulation of autophagy • regulation of protein targeting to mitochondrion • protein destabilization • negative regulation of glucokinase activity • positive regulation of proteasomal protein catabolic process • protein K63-linked ubiquitination • cellular response to dopamine • regulation of lipid transport • negative regulation of actin filament bundle assembly • regulation of dopamine metabolic process • regulation of mitochondrial membrane potential • автофагія • negative regulation of JNK cascade • dopamine metabolic process • GO:1901313 positive regulation of gene expression • positive regulation of I-kappaB kinase/NF-kappaB signaling • positive regulation of dendrite extension • negative regulation of reactive oxygen species metabolic process • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • mitophagy • Убіквітин-залежний протеоліз • parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization • positive regulation of proteasomal ubiquitin-dependent protein catabolic process • protein deubiquitination • regulation of protein stability • positive regulation of protein binding • mitochondrion to lysosome transport • regulation of cellular response to oxidative stress • negative regulation of exosomal secretion • positive regulation of retrograde transport, endosome to Golgi • negative regulation of intralumenal vesicle formation • positive regulation of protein localization to membrane • autophagy of mitochondrion • negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway • positive regulation of autophagy of mitochondrion • ubiquitin-dependent protein catabolic process • regulation of apoptotic process
Джерела:Amigo / QuickGO
Шаблон експресії
Більше даних Ортологи
Види
Людина Миша Entrez Ensembl UniProt RefSeq (мРНК)
RefSeq (білок)
Локус (UCSC)
Хр. 6: 161.35 – 162.73 Mb Хр. 17: 11.06 – 12.28 Mb PubMed search[ 2] [ 3] Вікідані
PRKN (англ. Parkin RBR E3 ubiquitin protein ligase ) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 6-ї хромосоми.[ 4] амінокислот , а молекулярна маса — 51 641[ 5]
Послідовність амінокислот
10 20 30 40 50 MIVFVRFNSS HGFPVEVDSD TSIFQLKEVV AKRQGVPADQ LRVIFAGKEL RNDWTVQNCD LDQQSIVHIV QRPWRKGQEM NATGGDDPRN AAGGCEREPQ SLTRVDLSSS VLPGDSVGLA VILHTDSRKD SPPAGSPAGR SIYNSFYVYC KGPCQRVQPG KLRVQCSTCR QATLTLTQGP SCWDDVLIPN RMSGECQSPH CPGTSAEFFF KCGAHPTSDK ETSVALHLIA TNSRNITCIT CTDVRSPVLV FQCNSRHVIC LDCFHLYCVT RLNDRQFVHD PQLGYSLPCV AGCPNSLIKE LHHFRILGEE QYNRYQQYGA EECVLQMGGV LCPRPGCGAG LLPEPDQRKV TCEGGNGLGC GFAFCRECKE AYHEGECSAV FEASGTTTQA YRVDERAAEQ ARWEAASKET IKKTTKPCPR CHVPVEKNGG CMHMKCPQPQ CRLEWCWNCG CEWNRVCMGD HWFDV
Кодований геном білок за функціями належить до трансфераз , фосфопротеїнів .
Задіяний у таких біологічних процесах, як транскрипція , регуляція транскрипції , убіквітинування білків, автофагія , альтернативний сплайсинг .
Білок має сайт для зв'язування з іонами металів, іоном цинку .
Локалізований у цитоплазмі , ядрі , мітохондрії , ендоплазматичному ретикулумі .
Kasap M., Akpinar G., Sazci A., Idrisoglu H.A., Vahaboglu H. (2009). Evidence for the presence of full-length PARK2 mRNA and Parkin protein in human blood. Neurosci. Lett . 460 : 196—200. PMID 19501131 DOI :10.1016/j.neulet.2009.05.079 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res . 14 : 2121—2127. 2004. PMID 15489334 DOI :10.1101/gr.2596504 Imai Y., Soda M., Takahashi R. (2000). Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity. J. Biol. Chem . 275 : 35661—35664. PMID 10973942 DOI :10.1074/jbc.C000447200 Marin I., Ferrus A. (2002). Comparative genomics of the RBR family, including the Parkinson's disease-related gene parkin and the genes of the ariadne subfamily . Mol. Biol. Evol . 19 : 2039—2050. PMID 12446796 DOI :10.1093/oxfordjournals.molbev.a004029 Huynh D.P., Scoles D.R., Nguyen D., Pulst S.M. (2003). The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. Hum. Mol. Genet . 12 : 2587—2597. PMID 12925569 DOI :10.1093/hmg/ddg269 Kahle P.J., Haass C. (2004). How does parkin ligate ubiquitin to Parkinson's disease?. EMBO Rep . 5 : 681—685. PMID 15229644 DOI :10.1038/sj.embor.7400188
