MITF — Melanocyte inducing transcription factor
MITF belongs to a gene co-expression module in 2 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
MITF's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| Hematopoietic progenitor cells | Mast Cell Differentiation Granulocyte development | ACSL4, ALOX5AP, BACE2, CDK15, CNKSR3, FAM81B, FAM83F, FOXJ1 +6 more | |
| Macrophages | MITF Lysosomal Program Lysosomal & pahgocytosis | ABHD3, ANKRD44, ARSB, C2CD5, CERS6, CHST11, CNST, DCTN4 +25 more | View in SCUBA |
About the gene
| Synonyms | bHLHe32, MI, WS2, WS2A |
|---|---|
| Chromosome | 3: 69739456-69968336 |
| Predicted location | Intracellular |
| Essential gene | No |
| Protein class | Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors |
| Molecular function | Activator, Developmental protein, DNA-binding |
| Biological process | Transcription, Transcription regulation |
Function
Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, MITF phosphorylation by MTOR promotes its inactivation. Upon starvation or lysosomal stress, inhibition of MTOR induces MITF dephosphorylation, resulting in transcription factor activity. 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.
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.