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MEF2C (англ. Myocyte enhancer factor 2C) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 5-ї хромосоми. Довжина поліпептидного ланцюга білка становить 473 амінокислот, а молекулярна маса — 51 221.
| MEF2C | |||||||||||||||||
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| Ідентифікатори | |||||||||||||||||
| Символи | MEF2C, C5DELq14.3, DEL5q14.3, myocyte enhancer factor 2C | ||||||||||||||||
| Зовнішні ІД | OMIM: 600662 MGI: 99458 HomoloGene: 31087 GeneCards: MEF2C | ||||||||||||||||
| Пов'язані генетичні захворювання | |||||||||||||||||
| mental retardation, autosomal dominant 20 | |||||||||||||||||
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| Види | Людина | Миша | |||||||||||||||
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| RefSeq (білок) |
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| Локус (UCSC) | Хр. 5: 88.72 – 88.9 Mb | н/д | |||||||||||||||
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| Вікідані | |||||||||||||||||
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| 10 | 20 | 30 | 40 | 50 | ||||
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| MGRKKIQITR | IMDERNRQVT | FTKRKFGLMK | KAYELSVLCD | CEIALIIFNS | ||||
| TNKLFQYAST | DMDKVLLKYT | EYNEPHESRT | NSDIVETLRK | KGLNGCDSPD | ||||
| PDADDSVGHS | PESEDKYRKI | NEDIDLMISR | QRLCAVPPPN | FEMPVSIPVS | ||||
| SHNSLVYSNP | VSSLGNPNLL | PLAHPSLQRN | SMSPGVTHRP | PSAGNTGGLM | ||||
| GGDLTSGAGT | SAGNGYGNPR | NSPGLLVSPG | NLNKNMQAKS | PPPMNLGMNN | ||||
| RKPDLRVLIP | PGSKNTMPSV | SEDVDLLLNQ | RINNSQSAQS | LATPVVSVAT | ||||
| PTLPGQGMGG | YPSAISTTYG | TEYSLSSADL | SSLSGFNTAS | ALHLGSVTGW | ||||
| QQQHLHNMPP | SALSQLGACT | STHLSQSSNL | SLPSTQSLNI | KSEPVSPPRD | ||||
| RTTTPSRYPQ | HTRHEAGRSP | VDSLSSCSSS | YDGSDREDHR | NEFHSPIGLT | ||||
| RPSPDERESP | SVKRMRLSEG | WAT |
Кодований геном білок за функціями належить до активаторів, , фосфопротеїнів. Задіяний у таких біологічних процесах як апоптоз, транскрипція, регуляція транскрипції, диференціація, нейрогенез, ацетилювання, альтернативний сплайсинг. Білок має сайт для зв'язування з ДНК. Локалізований у ядрі.
Література
- Han J., Jiang Y., Li Z., Kravchenko V.V., Ulevitch R.J. (1997). Activation of the transcription factor MEF2C by the MAP kinase p38 in inflammation. Nature. 386: 296—299. PMID 9069290 DOI:10.1038/386296a0
- Swanson B.J., Jaeck H.-M., Lyons G.E. (1998). Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes. Mol. Immunol. 35: 445—458. PMID 9798649 DOI:10.1016/S0161-5890(98)00058-3
- Zhou X., Marks P.A., Rifkind R.A., Richon V.M. (2001). Cloning and characterization of a histone deacetylase, HDAC9. Proc. Natl. Acad. Sci. U.S.A. 98: 10572—10577. PMID 11535832 DOI:10.1073/pnas.191375098
- Zhu B., Gulick T. (2004). Phosphorylation and alternative pre-mRNA splicing converge to regulate myocyte enhancer factor 2C activity. Mol. Cell. Biol. 24: 8264—8275. PMID 15340086 DOI:10.1128/MCB.24.18.8264-8275.2004
- Gocke C.B., Yu H., Kang J. (2005). Systematic identification and analysis of mammalian small ubiquitin-like modifier substrates. J. Biol. Chem. 280: 5004—5012. PMID 15561718 DOI:10.1074/jbc.M411718200
- Zhu B., Ramachandran B., Gulick T. (2005). Alternative pre-mRNA splicing governs expression of a conserved acidic transactivation domain in myocyte enhancer factor 2 factors of striated muscle and brain. J. Biol. Chem. 280: 28749—28760. PMID 15834131 DOI:10.1074/jbc.M502491200
Примітки
- Захворювання, генетично пов'язані з MEF2C переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- HUGO Gene Nomenclature Commitee, HGNC:6996 (англ.) . Процитовано 31 серпня 2017.
- (англ.) . Архів оригіналу за 30 липня 2017. Процитовано 31 серпня 2017.
Див. також
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MEF2C angl Myocyte enhancer factor 2C bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 5 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 473 aminokislot a molekulyarna masa 51 221 MEF2CIdentifikatoriSimvoliMEF2C C5DELq14 3 DEL5q14 3 myocyte enhancer factor 2CZovnishni ID OMIM 600662 MGI 99458 HomoloGene 31087 GeneCards MEF2CPov yazani genetichni zahvoryuvannyamental retardation autosomal dominant 20 Ontologiya genaMolekulyarna funkciya protein dimerization activity GO 0001131 GO 0001151 GO 0001130 GO 0001204 DNA binding transcription factor activity GO 0001077 GO 0001212 GO 0001213 GO 0001211 GO 0001205 DNA binding transcription activator activity RNA polymerase II specific histone deacetylase binding GO 0000983 RNA polymerase II general transcription initiation factor activity core promoter sequence specific DNA binding RNA polymerase II transcription regulatory region sequence specific DNA binding HMG box domain binding GO 0000980 RNA polymerase II cis regulatory region sequence specific DNA binding minor groove of adenine thymine rich DNA binding chromatin binding GO 0001158 cis regulatory region sequence specific DNA binding GO 0001948 GO 0016582 protein binding DNA binding sequence specific DNA binding protein heterodimerization activity transcription factor activity RNA polymerase II distal enhancer sequence specific binding GO 0001200 GO 0001133 GO 0001201 DNA binding transcription factor activity RNA polymerase II specificKlitinna komponenta klitinne yadro nuclear speck vnutrishnoklitinna membranna organela nukleoplazma citoplazma postsynapse Sarkoplazma GO 0009327 protein containing complexBiologichnij proces GO 1904089 negative regulation of neuron apoptotic process embryonic skeletal system morphogenesis myotube differentiation positive regulation of skeletal muscle tissue development cell morphogenesis involved in neuron differentiation positive regulation of muscle cell differentiation regulation of synapse assembly muscle organ development outflow tract morphogenesis monocyte differentiation sinoatrial valve morphogenesis negative regulation of ossification heart looping positive regulation of skeletal muscle cell differentiation blood vessel remodeling blood vessel development positive regulation of cardiac muscle cell proliferation humoral immune response positive regulation of alkaline phosphatase activity negative regulation of epithelial cell proliferation regulation of synaptic transmission glutamatergic melanocyte differentiation GO 0097285 apoptoz B cell receptor signaling pathway cellular response to calcium ion cellular response to transforming growth factor beta stimulus renal tubule morphogenesis nephron tubule epithelial cell differentiation cell fate commitment cardiac ventricle formation GO 0009373 regulation of transcription DNA templated cardiac muscle cell differentiation regulation of neuron apoptotic process Trombocitopoez neuron development smooth muscle cell differentiation positive regulation of protein homodimerization activity negative regulation of gene expression transcription DNA templated cellular response to trichostatin A GO 0060469 GO 0009371 positive regulation of transcription DNA templated heart development epithelial cell proliferation involved in renal tubule morphogenesis cardiac muscle hypertrophy in response to stress positive regulation of B cell proliferation positive regulation of neuron differentiation excitatory postsynaptic potential learning or memory positive regulation of macrophage apoptotic process positive regulation of cardiac muscle cell differentiation cellular response to parathyroid hormone stimulus primary heart field specification secondary heart field specification regulation of dendritic spine development regulation of germinal center formation roof of mouth development diferenciaciya klitin chondrocyte differentiation positive regulation of bone mineralization neural crest cell differentiation neuron migration B cell homeostasis GO 1901227 negative regulation of transcription by RNA polymerase II osifikaciya endohondralna regulation of neurotransmitter secretion cellular response to fluid shear stress nejrobiologiya rozvitku regulation of synaptic plasticity regulation of NMDA receptor activity muscle cell fate determination positive regulation of osteoblast differentiation regulation of synaptic activity osteoblast differentiation neuron differentiation regulation of sarcomere organization skeletal muscle cell differentiation positive regulation of behavioral fear response glomerulus morphogenesis germinal center formation positive regulation of cell proliferation in bone marrow MAPK cascade regulation of AMPA receptor activity multicellular organism development B cell proliferation GO 1901313 positive regulation of gene expression positive regulation of myoblast differentiation cartilage morphogenesis embryonic viscerocranium morphogenesis ventricular cardiac muscle cell differentiation cellular response to lipopolysaccharide skeletal muscle tissue development regulation of megakaryocyte differentiation GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II negative regulation of blood vessel endothelial cell migration negative regulation of vascular associated smooth muscle cell proliferation negative regulation of vascular associated smooth muscle cell migration negative regulation of vascular endothelial cell proliferationDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez4208 17260Ensembl ENSG00000081189 ENSMUSG00000005583UniProt Q06413 Q8CFN5RefSeq mRNK NM 001131005 NM 001193347 NM 001193348 NM 001193349 NM 001193350NM 001308002 NM 002397 NM 001363581NM 001170537 NM 025282RefSeq bilok NP 001124477 NP 001180276 NP 001180277 NP 001180278 NP 001180279NP 001294931 NP 002388 NP 001350510 NP 001351258 NP 001351259 NP 001351260 NP 001351261 NP 001351262 NP 001351263 NP 001351264 NP 001351265 NP 001351266 NP 001351267 NP 001351268 NP 001351269 NP 001351270 NP 001351271 NP 001351272 NP 001351273 NP 001351274 NP 001351275 NP 001351276 NP 001351277 NP 001351278 NP 001351279 NP 001351281 NP 001351282 NP 001351283 NP 001351284 NP 001351285 NP 001351286 NP 001294931 1NP 001164008 NP 001334493 NP 001334495 NP 001334496 NP 001334497NP 001334498 NP 001334500 NP 001334501 NP 001334502 NP 001334503 NP 001334504 NP 001334505 NP 001334506 NP 001334507 NP 001334508 NP 001334509 NP 001334510 NP 079558Lokus UCSC Hr 5 88 72 88 9 Mbn dPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNS TNKLFQYASTDMDKVLLKYTEYNEPHESRTNSDIVETLRKKGLNGCDSPD PDADDSVGHSPESEDKYRKINEDIDLMISRQRLCAVPPPNFEMPVSIPVS SHNSLVYSNPVSSLGNPNLLPLAHPSLQRNSMSPGVTHRPPSAGNTGGLM GGDLTSGAGTSAGNGYGNPRNSPGLLVSPGNLNKNMQAKSPPPMNLGMNN RKPDLRVLIPPGSKNTMPSVSEDVDLLLNQRINNSQSAQSLATPVVSVAT PTLPGQGMGGYPSAISTTYGTEYSLSSADLSSLSGFNTASALHLGSVTGW QQQHLHNMPPSALSQLGACTSTHLSQSSNLSLPSTQSLNIKSEPVSPPRD RTTTPSRYPQHTRHEAGRSPVDSLSSCSSSYDGSDREDHRNEFHSPIGLT RPSPDERESPSVKRMRLSEGWAT 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 aktivatoriv fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak apoptoz transkripciya regulyaciya transkripciyi diferenciaciya nejrogenez acetilyuvannya alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z DNK Lokalizovanij u yadri LiteraturaHan J Jiang Y Li Z Kravchenko V V Ulevitch R J 1997 Activation of the transcription factor MEF2C by the MAP kinase p38 in inflammation Nature 386 296 299 PMID 9069290 DOI 10 1038 386296a0 Swanson B J Jaeck H M Lyons G E 1998 Characterization of myocyte enhancer factor 2 MEF2 expression in B and T cells MEF2C is a B cell restricted transcription factor in lymphocytes Mol Immunol 35 445 458 PMID 9798649 DOI 10 1016 S0161 5890 98 00058 3 Zhou X Marks P A Rifkind R A Richon V M 2001 Cloning and characterization of a histone deacetylase HDAC9 Proc Natl Acad Sci U S A 98 10572 10577 PMID 11535832 DOI 10 1073 pnas 191375098 Zhu B Gulick T 2004 Phosphorylation and alternative pre mRNA splicing converge to regulate myocyte enhancer factor 2C activity Mol Cell Biol 24 8264 8275 PMID 15340086 DOI 10 1128 MCB 24 18 8264 8275 2004 Gocke C B Yu H Kang J 2005 Systematic identification and analysis of mammalian small ubiquitin like modifier substrates J Biol Chem 280 5004 5012 PMID 15561718 DOI 10 1074 jbc M411718200 Zhu B Ramachandran B Gulick T 2005 Alternative pre mRNA splicing governs expression of a conserved acidic transactivation domain in myocyte enhancer factor 2 factors of striated muscle and brain J Biol Chem 280 28749 28760 PMID 15834131 DOI 10 1074 jbc M502491200PrimitkiZahvoryuvannya genetichno pov yazani z MEF2C pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 6996 angl Procitovano 31 serpnya 2017 angl Arhiv originalu za 30 lipnya 2017 Procitovano 31 serpnya 2017 Div takozhHromosoma 5 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi