| Gene |
MITF
|
| Protein Name |
MITF_HUMAN |
| Organism |
Homo sapiens (Human) |
| Alternative name(s) |
Microphthalmia-associated transcription factor (Class E basic helix-loop-helix protein 32) (bHLHe32) |
| Protein Family |
MiT/TFE family |
| NCBI Gene ID |
4286
|
| UniProt ID |
O75030
|
| Enzyme Class |
- |
| Molecular Weight |
58795 |
| Protein Length |
526 |
| Protein Domain |
InterPro |
Pfam
|
| 3D Structure |
PDBe |
PDBj |
RCSB PDB |
DrugPort
ModBase |
SwissModel
|
| Gene Expression |
Gene Expression Atlas
|
| Function and Disease |
OMIM |
| Protein-protein Interaction Database |
STRING |
IntAct |
MINT
|
| Kinase Database |
Phospho.ELM
|
PhosphoSite
| NetworKIN
|
| Catalytic Activity (UniProt annotation) |
- |
| Localization |
Nucleus |
| Function (UniProt annotation) |
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. |
| Gene Ontology |
GO:0000122; GO:0000978; GO:0000981; GO:0001077; GO:0001227; GO:0003682; GO:0003705; GO:0005634; GO:0005654; GO:0006351; GO:0006355; GO:0010628; GO:0030316; GO:0030318; GO:0030336; GO:0032991; GO:0042127; GO:0043010; GO:0044336; GO:0045165; GO:0045670; GO:0045893; GO:0045944; GO:0046849; GO:0046983; GO:0065003; GO:0070888; GO:2000144; GO:2001141 |
