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MITF angl Melanogenesis associated transcription factor bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 3 yi hromosomi 4 Dovzhina polipeptidnogo lancyuga bilka stanovit 526 aminokislot a molekulyarna masa 58 795 5 MITFNayavni strukturiPDBPoshuk ortologiv PDBe RCSBSpisok kodiv PDB4C7NIdentifikatoriSimvoliMITF CMM8 MI WS2 WS2A bHLHe32 microphthalmia associated transcription factor melanogenesis associated transcription factor COMMAD melanocyte inducing transcription factor MITF AZovnishni ID OMIM 156845 MGI 104554 HomoloGene 4892 GeneCards MITFPov yazani genetichni zahvoryuvannyaWaardenburg syndrome type 2A Tietz syndrome mucosal melanoma MITF related melanoma and renal cell carcinoma predisposition syndrome coloboma osteopetrosis microphthalmia macrocephaly albinism and deafness COMMAD 1 Ontologiya genaMolekulyarna funkciya DNA binding protein dimerization activity GO 0001131 GO 0001151 GO 0001130 GO 0001204 DNA binding transcription factor activity GO 0001948 GO 0016582 protein binding GO 0001078 GO 0001214 GO 0001206 DNA binding transcription repressor activity RNA polymerase II specific GO 0000980 RNA polymerase II cis regulatory region sequence specific DNA binding GO 0001077 GO 0001212 GO 0001213 GO 0001211 GO 0001205 DNA binding transcription activator activity RNA polymerase II specific chromatin binding transcription factor activity RNA polymerase II distal enhancer sequence specific binding E box binding GO 0001200 GO 0001133 GO 0001201 DNA binding transcription factor activity RNA polymerase II specificKlitinna komponenta Nukleoplazma klitinne yadro GO 0009327 protein containing complexBiologichnij proces regulation of RNA biosynthetic process GO 0044324 GO 0003256 GO 1901213 GO 0046019 GO 0046020 GO 1900094 GO 0061216 GO 0060994 GO 1902064 GO 0003258 GO 0072212 regulation of transcription by RNA polymerase II GO 1901227 negative regulation of transcription by RNA polymerase II positive regulation of DNA templated transcription initiation transcription DNA templated multicellular organism development GO 1901313 positive regulation of gene expression transcription by RNA polymerase II GO 0009373 regulation of transcription DNA templated Regulyaciya ekspresiyi geniv Wnt signaling pathway Diferenciaciya klitin osteoclast differentiation melanocyte differentiation regulation of cell population proliferation camera type eye development negative regulation of apoptotic process pigmentation canonical Wnt signaling pathway involved in negative regulation of apoptotic process cell fate commitment regulation of osteoclast differentiation GO 0060469 GO 0009371 positive regulation of transcription DNA templated GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II bone remodeling GO 0034622 protein containing complex assembly negative regulation of cell migrationDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez4286 17342Ensembl ENSG00000187098 ENSMUSG00000035158UniProt O75030 Q08874RefSeq mRNK NM 000248NM 001184967NM 001184968NM 006722NM 198158NM 198159NM 198177NM 198178NM 001354604NM 001354605NM 001354606NM 001354607NM 001354608NM 001113198NM 001178049NM 008601RefSeq bilok NP 000239NP 001171896NP 001171897NP 006713NP 937801NP 937802NP 937820NP 937821NP 001341533NP 001341534NP 001341535NP 001341536NP 001341537NP 001106669NP 001171520NP 032627Lokus UCSC Hr 3 69 74 69 97 MbHr 6 97 78 98 MbPubMed search 2 3 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTCA 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 bilkiv rozvitku fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak transkripciya regulyaciya transkripciyi polimorfizm alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z DNK Lokalizovanij u yadri Literatura red Wang Y Radfar S Liu S Riker A I Khong H T 2010 Mitf Mdel a novel melanocyte melanoma specific isoform of microphthalmia associated transcription factor M as a candidate biomarker for melanoma BMC Med 8 14 14 PubMed DOI 10 1186 1741 7015 8 14 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PubMed DOI 10 1101 gr 2596504 Lee Y N Nechushtan H Figov N Razin E 2004 The function of lysyl tRNA synthetase and Ap4A as signaling regulators of MITF activity in FcepsilonRI activated mast cells Immunity 20 145 151 PubMed DOI 10 1016 S1074 7613 04 00020 2 Miller A J Levy C Davis I J Razin E Fisher D E 2005 Sumoylation of MITF and its related family members TFE3 and TFEB J Biol Chem 280 146 155 PubMed DOI 10 1074 jbc M411757200 Smith S D Kelley P M Kenyon J B Hoover D 2000 Tietz syndrome hypopigmentation deafness caused by mutation of MITF J Med Genet 37 446 448 PubMed DOI 10 1136 jmg 37 6 446Primitki red Zahvoryuvannya genetichno pov yazani z MITF pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 7105 angl Arhiv originalu za 30 bereznya 2016 Procitovano 30 serpnya 2017 UniProt O75030 angl Arhiv originalu za 26 serpnya 2017 Procitovano 30 serpnya 2017 Div takozh red Hromosoma 3 nbsp Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi Otrimano z https uk wikipedia org w index php title MITF amp oldid 38963504