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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.
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).
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.
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.
Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis.
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.
Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA MITF: RNA low tissue specificity; blood lineage group enriched (dendritic cells 7 nTPM, granulocytes 6 nTPM, monocytes 10 nTPM); high antibody staining in 1 normal tissue; highest cancer staining melanoma (5 of 9 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Breast cancer (all types), Ovarian cancer, Prostate cancer); Open Targets associates it with 3 specific cancer types at or above 0.5 (melanoma, cutaneous malignant, susceptibility to, 8, cutaneous melanoma, melanoma). (Rule 7 of scripts/fetch-target-specificity.ts.)
Sources: Human Protein Atlas MITF tissue; Open Targets ENSG00000187098 associations
First described 1994. Earliest sequence paper UniProt cites for the protein: Tachibana et al, Hum. Mol. Genet, 1994, "Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3". Source.
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))
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).
RNA: low tissue specificity, detected in all normal tissues. Blood: group enriched (dendritic cells 7 nTPM, granulocytes 6 nTPM, monocytes 10 nTPM).
Medium: Appendix, Colon, Endometrium, Heart muscle, Kidney, Lung, Rectum.
RNA cancer enhanced: Skin Cutaneous Melanoma 99 pTPM.
Medium only: breast cancer, cervical cancer, endometrial cancer, glioma.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query 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.
Shares Melanoma (KEGG map), Skin cancer (all types), CIViC, Ovarian cancer.
Shares Melanoma (KEGG map), Melanoma.
Shares Melanoma (KEGG map), Skin cancer (all types), Melanoma.
Shares Melanoma (KEGG map), Melanoma.
Shares Melanoma (KEGG map), Skin cancer (all types), Melanoma.
Shares Melanoma (KEGG map), Skin cancer (all types), Melanoma.