MEF2C

MEF2C
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
Онтологія гена Молекулярна функція • 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-specific Клітинна компонента • клітинне ядро • nuclear speck • внутрішньоклітинна мембранна органела • нуклеоплазма • цитоплазма • postsynapse • Саркоплазма • GO:0009327 protein-containing complex Біологічний процес • 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 апоптоз • 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 • Тромбоцитопоез • 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 • диференціація клітин • 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 • осифікація ендохондральна • regulation of neurotransmitter secretion • cellular response to fluid shear stress • нейробіологія розвитку • 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 proliferation Джерела:Amigo / QuickGO
Шаблон експресії
Більше даних
Ортологи
Види	Людина	Миша
Entrez	4208	17260
Ensembl	ENSG00000081189	ENSMUSG00000005583
UniProt	Q06413	Q8CFN5
RefSeq (мРНК)	NM_001131005 NM_001193347 NM_001193348 NM_001193349 NM_001193350 NM_001308002 NM_002397 NM_001363581	NM_001170537 NM_025282
RefSeq (білок)	NP_001124477 NP_001180276 NP_001180277 NP_001180278 NP_001180279 NP_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_001294931.1	NP_001164008 NP_001334493 NP_001334495 NP_001334496 NP_001334497 NP_001334498 NP_001334500 NP_001334501 NP_001334502 NP_001334503 NP_001334504 NP_001334505 NP_001334506 NP_001334507 NP_001334508 NP_001334509 NP_001334510 NP_079558
Локус (UCSC)	Хр. 5: 88.72 – 88.9 Mb	н/д
PubMed search
Вікідані
Див./Ред. для людей Див./Ред. для мишей

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.

Послідовність амінокислот

10		20		30		40		50
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

A: Аланін
C: Цистеїн
D: Аспарагінова кислота
E: Глутамінова кислота
F: Фенілаланін
G: Гліцин
H: Гістидин
I: Ізолейцин
K: Лізин
L: Лейцин
M: Метіонін
N: Аспарагін
P: Пролін
Q: Глутамін
R: Аргінін
S: Серин
T: Треонін
V: Валін
W: Триптофан

Y: Тирозин

Кодований геном білок за функціями належить до активаторів, білків розвитку, 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

Див. також

• Хромосома 5