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MITF iso8
Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. Belongs to the MiT/TFE family. Isoform M is exclusively expressed in melanocytes and melanoma cells. Isoform A and isoform H are widely expressed in many cell types including melanocytes and retinal pigment epithelium (RPE). Isoform C is expressed in many cell types including RPE but not in melanocyte-lineage cells. Isoform Mdel is widely expressed in melanocytes, melanoma cell lines and tissues, but almost undetectable in non-melanoma cell lines. 12 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: DNA-binding; Oncoprotein; Transcription factor |
| Chromosomal Location of mouse Ortholog: 6 D3|6 45.05 cM |
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Cellular Component:
cytoplasm; nucleus; protein-containing complex
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Molecular Function:
chromatin binding; DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor activity; DNA-binding transcription factor activity, RNA polymerase II-specific; E-box binding; protein binding; protein dimerization activity; RNA polymerase II cis-regulatory region sequence-specific DNA binding; sequence-specific DNA binding
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Biological Process:
bone remodeling; camera-type eye development; cell differentiation; cell fate commitment; DNA-templated transcription; melanocyte apoptotic process; melanocyte differentiation; multicellular organism development; negative regulation of apoptotic process; negative regulation of cell migration; negative regulation of transcription by RNA polymerase II; osteoclast differentiation; pigmentation; positive regulation of DNA-templated transcription; positive regulation of DNA-templated transcription initiation; positive regulation of gene expression; positive regulation of transcription by RNA polymerase II; protein-containing complex assembly; regulation of cell population proliferation; regulation of DNA-templated transcription; regulation of gene expression; regulation of osteoclast differentiation; regulation of RNA biosynthetic process; regulation of transcription by RNA polymerase II; Wnt signaling pathway
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Reference #:
Q08874-8
(UniProtKB)
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Alt. Names/Synonyms: BCC2; bHLHe3; bHLHe32; black eyed white; Bw; Gsfbcc; Gsfbcc2; melanogenesis associated transcription factor; MGC124309; MGC124310; Mi; microphtalmia-associated transcription factor; Microphthalmia-associated transcription factor; Mitf; MITF iso8; OTTMUSP00000027092; Vit; vitiligo; wh
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Gene Symbols: Mitf
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Molecular weight:
46,769 Da
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Basal Isoelectric point:
5.84
Predict pI for various phosphorylation states
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CST Pathways:
Growth And Differentiation Control by MAPKs
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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