Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
Home | Login
About PhosphoSiteUsing PhosphoSiteprivacy & cookiesCuration ProcessContact
logos LINCs Logo Mt Sinai Logo NIH Logo NCI Logo
Search / Browse Functions
Protein Page:

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: 3p13
Cellular Component: nucleoplasm; nucleus; protein complex
Molecular Function: protein binding
Biological Process: melanocyte differentiation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; protein complex assembly; protein sumoylation; regulation of transcription, DNA-dependent
Disease: Albinism, Ocular, With Sensorineural Deafness; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness; Melanoma, Cutaneous Malignant, Susceptibility To, 8; Tietz Syndrome; Waardenburg Syndrome, Type 2a
Reference #:  O75030 (UniProtKB)
Alt. Names/Synonyms: BHLHE32; Class E basic helix-loop-helix protein 32; homolog of mouse microphthalmia; MI; Microphthalmia-associated transcription factor; microphthalmia-associated transcription factor-M transcript; MITF; WS2A
Gene Symbols: MITF
Molecular weight: 58,795 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
Select Structure to View Below


Protein Structure Not Found.
Download PyMol Script
Download ChimeraX Script

STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Scansite  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein