MITF
MITF (Microphthalmia-associated transcription factor) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Breast cancer, Ovarian cancer and 2 more.
Overview
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.
CIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Vemurafenib, Dabrafenib, PLX4720 and Selumetinib. Open Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.24, affected pathway 0.61, literature 0.98, genetic association 0.84, somatic mutation 0.98, animal model 0.65).
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · MITF (Microphthalmia-associated transcription factor) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Breast cancer, Ovarian cancer and 2 more.
- 1 · What it is
MITF (Microphthalmia-associated transcription factor) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Breast cancer, Ovarian cancer and 2 more.
- 2 · What goes wrong in cancer
Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis.
- 3 · How drugs use it
No product in this corpus aims at MITF yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
External identifiers
Sources: HGNC HGNC:7105 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt O75030 (protein name, function text, keywords and locations (REST API)); CIViC gene MITF (2 evidence items, 0 assertions, 2 variants; diseases: Melanoma (GraphQL API, CC0)); Open Targets ENSG00000187098 (association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: prostate cancer 0.51, ovarian cancer 0.56, melanoma 0.75, skin cancer 0.73, breast cancer 0.59 (GraphQL API, CC0))
Biology
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. Location: Nucleus; Cytoplasm; Lysosome membrane (UniProt). Locus 3p13 (HGNC).
- Skin cancer: Open Targets association 0.73 with skin cancer (MONDO_0002898)
- Breast cancer: Open Targets association 0.59 with breast cancer (MONDO_0007254)
- Ovarian cancer: Open Targets association 0.56 with ovarian cancer (MONDO_0008170)
- Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315)
- Melanoma: Open Targets association 0.75 with melanoma (MONDO_0005105); CIViC evidence names this disease
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"MITF" OR ABSTRACT:"MITF" OR TITLE:"melanocyte inducing transcription factor" OR ABSTRACT:"melanocyte inducing transcription factor" OR TITLE:"Microphthalmia-associated transcription factor" OR ABSTRACT:"Microphthalmia-associated transcription factor" OR TITLE:"bHLHe32" OR ABSTRACT:"bHLHe32" OR TITLE:"WS2A" OR ABSTRACT:"WS2A" OR TITLE:"WS2" OR ABSTRACT:"WS2") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about MITF, not a curated reading list.
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