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: Transcription factor; DNA binding protein
Chromosomal Location of Human Ortholog: 3p14.2-p14.1
Cellular Component: protein complex; nucleus
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein dimerization activity; protein binding; chromatin binding
Biological Process: transcription from RNA polymerase II promoter; camera-type eye development; regulation of osteoclast differentiation; cell fate commitment; regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; melanocyte differentiation; protein complex assembly; positive regulation of transcription from RNA polymerase II promoter; osteoclast differentiation; negative regulation of transcription from RNA polymerase II promoter; bone remodeling; regulation of cell proliferation
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.