MITF

Isoform C2 of Microphthalmia-associated transcription factor; Isoform A2 of Microphthalmia-associated transcription factor; Isoform C1 of Microphthalmia-associated transcription factor; Isoform B1 of Microphthalmia-associated transcription factor; Isoform M2 of Microphthalmia-associated transcription factor; Isoform B2 of Microphthalmia-associated transcription factor; Isoform Mdel of Microphthalmia-associated transcription factor;Microphthalmia-associated transcription factor; Isoform H2 of Microphthalmia-associated transcription factor; Isoform H1 of Microphthalmia-associated transcription factor; Isoform M1 of Microphthalmia-associated transcription factor; Isoform 12 of Microphthalmia-associated transcription factor

Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). 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) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). 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 (PubMed:36608670). Upon starvation or lysosomal stress, inhibition of MTOR induces MITF dephosphorylation, resulting in transcription factor activity (PubMed:36608670). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). 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 (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758).

    Matrix Type

    • Tissue/Cells

    Gene Symbol

    • MITF

    UniProt ID

    • O75030
    • O75030-11
    • O75030-12
    • O75030-2
    • O75030-3
    • O75030-4
    • O75030-5
    • O75030-6
    • O75030-7
    • O75030-8
    • O75030-9

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