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PSEN1 (англ. Presenilin 1) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 14-ї хромосоми. Довжина поліпептидного ланцюга білка становить 467 амінокислот, а молекулярна маса — 52 668.
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| Ідентифікатори | |||||||||||||||||
| Символи | PSEN1, Psen1, Ad3h, PS-1, PS1, S182, AD3, FAD, presenilin 1, ACNINV3 | ||||||||||||||||
| Зовнішні ІД | OMIM: 104311 MGI: 1202717 HomoloGene: 7186 GeneCards: PSEN1 | ||||||||||||||||
| Пов'язані генетичні захворювання | |||||||||||||||||
| Alzheimer disease 3, dilated cardiomyopathy 1U, Хвороба Піка | |||||||||||||||||
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| RefSeq (білок) |
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| Локус (UCSC) | Хр. 14: 73.14 – 73.22 Mb | Хр. 12: 83.73 – 83.78 Mb | |||||||||||||||
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| MTELPAPLSY | FQNAQMSEDN | HLSNTVRSQN | DNRERQEHND | RRSLGHPEPL | ||||
| SNGRPQGNSR | QVVEQDEEED | EELTLKYGAK | HVIMLFVPVT | LCMVVVVATI | ||||
| KSVSFYTRKD | GQLIYTPFTE | DTETVGQRAL | HSILNAAIMI | SVIVVMTILL | ||||
| VVLYKYRCYK | VIHAWLIISS | LLLLFFFSFI | YLGEVFKTYN | VAVDYITVAL | ||||
| LIWNFGVVGM | ISIHWKGPLR | LQQAYLIMIS | ALMALVFIKY | LPEWTAWLIL | ||||
| AVISVYDLVA | VLCPKGPLRM | LVETAQERNE | TLFPALIYSS | TMVWLVNMAE | ||||
| GDPEAQRRVS | KNSKYNAEST | ERESQDTVAE | NDDGGFSEEW | EAQRDSHLGP | ||||
| HRSTPESRAA | VQELSSSILA | GEDPEERGVK | LGLGDFIFYS | VLVGKASATA | ||||
| SGDWNTTIAC | FVAILIGLCL | TLLLLAIFKK | ALPALPISIT | FGLVFYFATD | ||||
| YLVQPFMDQL | AFHQFYI |
Кодований геном білок за функціями належить до гідролаз, протеаз, фосфопротеїнів. Задіяний у таких біологічних процесах, як апоптоз, клітинна адгезія, альтернативний сплайсинг. Локалізований у клітинній мембрані та мембрані ендоплазматичного ретикулума і апараті Ґольджі.
Патологія
Мутації у гені PSEN1 асоційовані з сімейними формами хвороби Альцгеймара, що успадковуються аутосомно домінантно .
Література
- 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
- Tsujimura A., Yasojima K., Hashimoto-Gotoh T. (1997). Cloning of Xenopus presenilin-alpha and -beta cDNAs and their differential expression in oogenesis and embryogenesis. Biochem. Biophys. Res. Commun. 231: 392—396. PMID 9070286 DOI:10.1006/bbrc.1996.6043
- Vidal R., Ghiso J., Wisniewski T., Frangione B. (1996). Alzheimer's presenilin 1 gene expression in platelets and megakaryocytes. Identification of a novel splice variant. FEBS Lett. 393: 19—23. PMID 8804415 DOI:10.1016/0014-5793(96)00845-9
- Hillman R.T., Green R.E., Brenner S.E. (2004). An unappreciated role for RNA surveillance. Genome Biol. 5: R8.1—R8.16. PMID 14759258 DOI:10.1186/gb-2004-5-2-r8
- Fluhrer R., Friedlein A., Haass C., Walter J. (2004). Phosphorylation of presenilin 1 at the caspase recognition site regulates its proteolytic processing and the progression of apoptosis. J. Biol. Chem. 279: 1585—1593. PMID 14576165 DOI:10.1074/jbc.M306653200
- Cruts M., van Broeckhoven C. (1998). Presenilin mutations in Alzheimer's disease. Hum. Mutat. 11: 183—190. PMID 9521418 DOI:10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J
Примітки
- Захворювання, генетично пов'язані з PSEN1 переглянути/редагувати посилання на ВікіДаних.
- Сполуки, які фізично взаємодіють з Presenilin 1 переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- (англ.) . Архів оригіналу за 5 квітня 2016. Процитовано 11 вересня 2017.
- (англ.) . Архів оригіналу за 8 серпня 2017. Процитовано 11 вересня 2017.
- Natalie S Ryan et al. "Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series" / Natalie S Ryan et al.// Lancet Neurol. — 2016. — Vol.15 — P.1326-1335
Див. також
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PSEN1 angl Presenilin 1 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 14 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 467 aminokislot a molekulyarna masa 52 668 PSEN1Nayavni strukturiPDBPoshuk ortologiv PDBe RCSB Spisok kodiv PDB2KR6 5A63 4UIS 5FN3 5FN4 5FN5 5FN2IdentifikatoriSimvoliPSEN1 Psen1 Ad3h PS 1 PS1 S182 AD3 FAD presenilin 1 ACNINV3Zovnishni ID OMIM 104311 MGI 1202717 HomoloGene 7186 GeneCards PSEN1Pov yazani genetichni zahvoryuvannyaAlzheimer disease 3 dilated cardiomyopathy 1U Hvoroba Pika Reaguye na spolukusemagacestat Ontologiya genaMolekulyarna funkciya PDZ domain binding cadherin binding GO 0070122 peptidase activity beta catenin binding GO 0001948 GO 0016582 protein binding calcium channel activity aspartic type endopeptidase activity endopeptidase activity hydrolase activity aspartic endopeptidase activity intramembrane cleavingKlitinna komponenta yaderna membrana membrana mitohondriya ciliary rootlet neuron projection gamma secretase complex klitinne yadro kinetohor centrosoma rough endoplasmic reticulum dendritic shaft aggresome cell surface membranna organela endoplazmatichnij retikulum membrane raft kompleks Goldzhi growth cone neuromuscular junction vnutrishnoklitinnij akson nuclear outer membrane endoplasmic reticulum membrane Golgi membrane integral component of plasma membrane smooth endoplasmic reticulum lysosomal membrane mizhklitinni kontakti dendrit nejrobiologiya presynapse mitohondrialna vnutrishnya membrana GO 0016023 cytoplasmic vesicle citoplazma klitinna membrana cell cortex integral component of membrane azurophil granule membrane Z disc neuronal cell body perinuclear region of cytoplasm early endosome Sinaptichni bulbashki GO 0009327 protein containing complex Sarkolema sinaps synaptic membrane integral component of presynaptic membrane endosoma early endosome membrane cell projectionBiologichnij proces GO 1904089 negative regulation of neuron apoptotic process somitogenesis positive regulation of protein phosphorylation positive regulation of MAP kinase activity GO 0048554 positive regulation of catalytic activity mitochondrial transport post embryonic development positive regulation of dendritic spine development cellular response to DNA damage stimulus heart looping blood vessel development membrane protein ectodomain proteolysis regulation of epidermal growth factor activated receptor activity regulation of resting membrane potential regulation of synaptic transmission glutamatergic amyloid precursor protein catabolic process GO 0097285 apoptoz thymus development positive regulation of coagulation negative regulation of apoptotic signaling pathway neuron development pam yat endoplasmic reticulum calcium ion homeostasis GO 0001306 response to oxidative stress autophagosome assembly GO 0060469 GO 0009371 positive regulation of transcription DNA templated heart development negative regulation of axonogenesis embryonic limb morphogenesis locomotion learning or memory protein transport cerebral cortex cell migration positive regulation of proteasomal ubiquitin dependent protein catabolic process L glutamate transmembrane transport brain morphogenesis Signalnij shlyah Notch GO 0033128 negative regulation of protein phosphorylation myeloid leukocyte differentiation neuron apoptotic process smooth endoplasmic reticulum calcium ion homeostasis synaptic vesicle targeting Cajal Retzius cell differentiation skin morphogenesis negative regulation of protein kinase activity cell fate specification skeletal system morphogenesis regulation of phosphorylation cellular calcium ion homeostasis epithelial cell proliferation neuron migration negative regulation of apoptotic process GO 1901227 negative regulation of transcription by RNA polymerase II proteoliz regulation of synaptic plasticity negative regulation of epidermal growth factor activated receptor activity adgeziya klitin hematopoietic progenitor cell differentiation neuron differentiation cerebral cortex development canonical Wnt signaling pathway dorsal ventral neural tube patterning neural retina development positive regulation of protein kinase activity T cell activation involved in immune response Nejrogenez GO 0007243 intracellular signal transduction protein processing protein maturation myeloid dendritic cell differentiation avtofagiya GO 0033578 GO 0033577 GO 0033575 GO 0033576 protein glycosylation brain development negative regulation of ubiquitin protein transferase activity choline transport positive regulation of apoptotic process Notch receptor processing negative regulation of ubiquitin dependent protein catabolic process forebrain development regulation of protein binding T cell receptor signaling pathway segmentation positive regulation of receptor recycling calcium ion transmembrane transport amyloid beta formation amyloid precursor protein metabolic process neutrophil degranulation regulation of canonical Wnt signaling pathway amyloid beta metabolic process positive regulation of L glutamate import across plasma membrane astrocyte activation involved in immune response regulation of neuron projection development cerebellum development positive regulation of protein binding Notch receptor processing ligand dependent positive regulation of phosphorylation astrocyte activation synapse organization cell cell adhesion cellular response to amyloid beta negative regulation of core promoter binding negative regulation of low density lipoprotein receptor activity positive regulation of amyloid fibril formation neuron projection maintenance membrane protein intracellular domain proteolysis positive regulation of protein import into nucleus ephrin receptor signaling pathway GO 1901313 positive regulation of gene expression negative regulation of gene expression positive regulation of glycolytic processDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez5663 19164Ensembl ENSG00000080815 ENSMUSG00000019969UniProt P49768 P49769RefSeq mRNK NM 000021 NM 007318 NM 007319NM 008943 NM 001362271RefSeq bilok NP 000012 NP 015557NP 001349200Lokus UCSC Hr 14 73 14 73 22 MbHr 12 83 73 83 78 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPL SNGRPQGNSRQVVEQDEEEDEELTLKYGAKHVIMLFVPVTLCMVVVVATI KSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILL VVLYKYRCYKVIHAWLIISSLLLLFFFSFIYLGEVFKTYNVAVDYITVAL LIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKYLPEWTAWLIL AVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAE GDPEAQRRVSKNSKYNAESTERESQDTVAENDDGGFSEEWEAQRDSHLGP HRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATA SGDWNTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATD YLVQPFMDQLAFHQFYI A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyami nalezhit do gidrolaz proteaz fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak apoptoz klitinna adgeziya alternativnij splajsing Lokalizovanij u klitinnij membrani ta membrani endoplazmatichnogo retikuluma i aparati Goldzhi Kultura nejroniv perednogo mozku pislya 40 dniv diferenciaciyi indukovanih lyudskih plyuripotentnih stovburovih klitin iPSCs iPSCs vid paciyentki z simejnoyu formoyu hvorobi Alcgejmera mutaciya u geni PSEN1 TUJ 1 pozitivni klitini ekspresuyut marker b3 tubulin zrilih nejroniv chervonij kolir GABA pozitivni klitini zelenij kolir ekspresuyut marker GABA ergichnih nejroniv receptor gamma aminomaslyanoyi kisloti GAMK A alfa 1 Yadra klitin pofarbovani DAPI sinij kolir PatologiyaMutaciyi u geni PSEN1 asocijovani z simejnimi formami hvorobi Alcgejmara sho uspadkovuyutsya autosomno dominantno LiteraturaThe 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 Tsujimura A Yasojima K Hashimoto Gotoh T 1997 Cloning of Xenopus presenilin alpha and beta cDNAs and their differential expression in oogenesis and embryogenesis Biochem Biophys Res Commun 231 392 396 PMID 9070286 DOI 10 1006 bbrc 1996 6043 Vidal R Ghiso J Wisniewski T Frangione B 1996 Alzheimer s presenilin 1 gene expression in platelets and megakaryocytes Identification of a novel splice variant FEBS Lett 393 19 23 PMID 8804415 DOI 10 1016 0014 5793 96 00845 9 Hillman R T Green R E Brenner S E 2004 An unappreciated role for RNA surveillance Genome Biol 5 R8 1 R8 16 PMID 14759258 DOI 10 1186 gb 2004 5 2 r8 Fluhrer R Friedlein A Haass C Walter J 2004 Phosphorylation of presenilin 1 at the caspase recognition site regulates its proteolytic processing and the progression of apoptosis J Biol Chem 279 1585 1593 PMID 14576165 DOI 10 1074 jbc M306653200 Cruts M van Broeckhoven C 1998 Presenilin mutations in Alzheimer s disease Hum Mutat 11 183 190 PMID 9521418 DOI 10 1002 SICI 1098 1004 1998 11 3 lt 183 AID HUMU1 gt 3 0 CO 2 JPrimitkiZahvoryuvannya genetichno pov yazani z PSEN1 pereglyanuti redaguvati posilannya na VikiDanih Spoluki yaki fizichno vzayemodiyut z Presenilin 1 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference angl Arhiv originalu za 5 kvitnya 2016 Procitovano 11 veresnya 2017 angl Arhiv originalu za 8 serpnya 2017 Procitovano 11 veresnya 2017 Natalie S Ryan et al Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer s disease a case series Natalie S Ryan et al Lancet Neurol 2016 Vol 15 P 1326 1335Div takozhHromosoma 14 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi