MITF 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.
Protein type: DNA-binding; Oncoprotein; Transcription factor
Chromosomal Location of Human Ortholog: 3p13
Cellular Component:  nucleoplasm; nucleus; protein-containing complex
Molecular Function:  chromatin binding; DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription repressor activity, RNA polymerase II-specific; E-box binding; protein binding; protein dimerization activity; RNA polymerase II proximal promoter sequence-specific DNA binding
Biological Process:  bone remodeling; camera-type eye development; canonical Wnt signaling pathway involved in negative regulation of apoptotic process; cell fate commitment; melanocyte differentiation; negative regulation of cell migration; negative regulation of transcription by RNA polymerase II; osteoclast differentiation; 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 osteoclast differentiation; regulation of RNA biosynthetic process; regulation of transcription, DNA-templated; transcription, DNA-templated
Disease: 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; CMM8; COMMAD; homolog of mouse microphthalmia; melanocyte inducing transcription factor; melanogenesis associated transcription factor; MI; microphtalmia-associated transcription factor; Microphthalmia-associated transcription factor; microphthalmia-associated transcription factor-M transcript; MITF; WS2; 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, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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MITF

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein