MITF |
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![](//upload.wikimedia.org/wikipedia/commons/thumb/1/1d/MITF_protein.png/250px-MITF_protein.png) |
Наявні структури |
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PDB | Пошук ортологів: PDBe RCSB | | |
Ідентифікатори |
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Символи | MITF, CMM8, MI, WS2, WS2A, bHLHe32, microphthalmia-associated transcription factor, melanogenesis associated transcription factor, COMMAD, melanocyte inducing transcription factor, MITF-A |
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Зовнішні ІД | OMIM: 156845 MGI: 104554 HomoloGene: 4892 GeneCards: MITF |
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Пов'язані генетичні захворювання |
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Waardenburg 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] |
Онтологія гена |
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Молекулярна функція | • 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-specific |
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Клітинна компонента | • нуклеоплазма • клітинне ядро • GO:0009327 protein-containing complex |
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Біологічний процес | • 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 • регуляція експресії генів • Wnt signaling pathway • диференціація клітин • 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 migration |
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Джерела:Amigo / QuickGO | |
Шаблон експресії |
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![](//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/PBB_GE_MITF_207233_s_at_fs.png/250px-PBB_GE_MITF_207233_s_at_fs.png) |
Більше даних |
Ортологи |
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Види | Людина | Миша |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (мРНК) | NM_000248 NM_001184967 NM_001184968 NM_006722 NM_198158
| NM_198159 NM_198177 NM_198178 NM_001354604 NM_001354605 NM_001354606 NM_001354607 NM_001354608 |
| | NM_001113198 NM_001178049 NM_008601 |
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RefSeq (білок) | NP_000239 NP_001171896 NP_001171897 NP_006713 NP_937801
| NP_937802 NP_937820 NP_937821 NP_001341533 NP_001341534 NP_001341535 NP_001341536 NP_001341537 |
| | NP_001106669 NP_001171520 NP_032627 |
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Локус (UCSC) | Хр. 3: 69.74 – 69.97 Mb | Хр. 6: 97.78 – 98 Mb |
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PubMed search | [2] | [3] |
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Вікідані |
Див./Ред. для людей | Див./Ред. для мишей |
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