MITF a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. Plays a critical role in the differentiation of various cell types including neural crest- derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. Two isoforms are known: the M-isoform is expressed exclusively in melanocytes, while the A-isoform has a much broader range of expression. Mutations in MITF can lead to Waardenburg syndrome. Ten alternatively spliced isoforms have been described. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Oncoprotein; Transcription factor
Chromosomal Location of Human Ortholog: 6 D3|6 45.05 cM
Cellular Component:  nucleus; protein-containing complex
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 proximal promoter sequence-specific DNA binding; sequence-specific DNA binding
Biological Process:  bone remodeling; camera-type eye development; canonical Wnt signaling pathway involved in negative regulation of apoptotic process; cell differentiation; cell fate commitment; 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, initiation; positive regulation of gene expression; positive regulation of transcription by RNA polymerase II; positive regulation of transcription, DNA-templated; protein-containing complex assembly; regulation of cell proliferation; regulation of gene expression; regulation of osteoclast differentiation; regulation of RNA biosynthetic process; regulation of transcription by RNA polymerase II; regulation of transcription, DNA-templated; transcription, DNA-templated; Wnt signaling pathway
Reference #:  Q08874 (UniProtKB)
Alt. Names/Synonyms: bHLHe32; black eyed white; MGC124309; MGC124310; Microphthalmia-associated transcription factor; Mitf; OTTMUSP00000027092; Vit; vitiligo
Gene Symbols: Mitf
Molecular weight: 58,605 Da
Basal Isoelectric point: 5.93  Predict pI for various phosphorylation states
CST Pathways:  Growth And Differentiation Control by MAPKs
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene