{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"O75030","secondaryAccessions":["B4DJL2","D3K197","E9PFN0","Q14841","Q9P2V0","Q9P2V1","Q9P2V2","Q9P2Y8"],"uniProtkbId":"MITF_HUMAN","entryAudit":{"firstPublicDate":"2001-02-21","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2001-02-21","entryVersion":234,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Microphthalmia-associated transcription factor"}},"alternativeNames":[{"fullName":{"value":"Class E basic helix-loop-helix protein 32"},"shortNames":[{"value":"bHLHe32"}]}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8069297"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:7105"}],"value":"MITF"},"synonyms":[{"value":"BHLHE32"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10587587"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22647378"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27889061"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9647758"}],"value":"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)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q08874"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14975237"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15507434"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22647378"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23401004"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24631970"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}],"value":"Homodimer or heterodimer; dimerization is mediated via the coiled coil region (PubMed:24631970). Efficient DNA binding requires dimerization with another bHLH protein (PubMed:14975237). Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC (PubMed:15507434). Interacts with small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD); promoting its recruitment to lysosomal membrane in the presence of nutrients (PubMed:23401004, PubMed:36608670). Interacts with KARS1 (PubMed:14975237). Identified in a complex with HINT1 and CTNNB1 (PubMed:22647378). Interacts with VSX2 (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"O75030","intActId":"EBI-3910192"},"interactantTwo":{"uniProtKBAccession":"P63165","geneName":"SUMO1","intActId":"EBI-80140"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O75030","intActId":"EBI-3910192"},"interactantTwo":{"uniProtKBAccession":"P19532","geneName":"TFE3","intActId":"EBI-1048957"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O75030","intActId":"EBI-3910192"},"interactantTwo":{"uniProtKBAccession":"P19484","geneName":"TFEB","intActId":"EBI-2814208"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16822840"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23401004"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}],"value":"When nutrients are present, recruited to the lysosomal membrane via association with GDP-bound RagC/RRAGC (or RagD/RRAGD): it is then phosphorylated by MTOR (PubMed:23401004, PubMed:36608670). Phosphorylation by MTOR promotes ubiquitination and degradation (PubMed:36608670). Conversely, inhibition of mTORC1, starvation and lysosomal disruption, promotes dephosphorylation and translocation to the nucleus (PubMed:36608670). Phosphorylation by MARK3/cTAK1 promotes association with 14-3-3/YWHA adapters and retention in the cytosol (PubMed:16822840)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16822840"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27889061"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28842328"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16822840"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28842328"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23401004"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}],"value":"Lysosome membrane","id":"SL-0157"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"A1"},"isoformIds":["O75030-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"A2"},"isoformIds":["O75030-2"],"sequenceIds":["VSP_002128"],"isoformSequenceStatus":"Described"},{"name":{"value":"B1"},"isoformIds":["O75030-3"],"sequenceIds":["VSP_002124"],"isoformSequenceStatus":"Described"},{"name":{"value":"B2"},"isoformIds":["O75030-4"],"sequenceIds":["VSP_002124","VSP_002128"],"isoformSequenceStatus":"Described"},{"name":{"value":"C1"},"isoformIds":["O75030-5"],"sequenceIds":["VSP_002125"],"isoformSequenceStatus":"Described"},{"name":{"value":"C2"},"isoformIds":["O75030-6"],"sequenceIds":["VSP_002125","VSP_002128"],"isoformSequenceStatus":"Described"},{"name":{"value":"H1"},"isoformIds":["O75030-7"],"sequenceIds":["VSP_002126"],"isoformSequenceStatus":"Described"},{"name":{"value":"H2"},"isoformIds":["O75030-8"],"sequenceIds":["VSP_002126","VSP_002128"],"isoformSequenceStatus":"Described"},{"name":{"value":"M1"},"isoformIds":["O75030-9"],"sequenceIds":["VSP_002127"],"isoformSequenceStatus":"Described"},{"name":{"value":"M2"},"isoformIds":["O75030-10"],"sequenceIds":["VSP_002127","VSP_002128"],"isoformSequenceStatus":"Described"},{"name":{"value":"Mdel"},"isoformIds":["O75030-11"],"sequenceIds":["VSP_002127","VSP_045178","VSP_045179"],"isoformSequenceStatus":"Described"},{"name":{"value":"12"},"isoformIds":["O75030-12"],"sequenceIds":["VSP_046438","VSP_045179"],"isoformSequenceStatus":"Described"}],"note":{"texts":[{"value":"The X2-type isoforms differ from the X1-type isoforms by the absence of a 6 residue insert."}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28842328"}],"value":"Expressed in melanocytes (at protein level)"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10578055"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9647758"}],"value":"Expressed in the retinal pigment epithelium, brain, and placenta (PubMed:9647758). Expressed in the kidney (PubMed:10578055, PubMed:9647758)"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform A2"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10578055"}],"value":"Expressed in the kidney and retinal pigment epithelium"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform C2"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10578055"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9647758"}],"value":"Expressed in the kidney"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform H1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10578055"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9647758"}],"value":"Expressed in the kidney"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform H2"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20163701"}],"value":"Expressed in melanocytes"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform M1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20163701"}],"value":"Expressed in melanocytes"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform Mdel"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"24631970"}],"value":"The leucine zipper region is part of a larger coiled coil"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10587587"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10673502"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16822840"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28842328"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}],"value":"When nutrients are present, phosphorylation by MTOR at Ser-5 via non-canonical mTORC1 pathway promotes ubiquitination by the SCF(BTRC) complex, followed by degradation (PubMed:36608670). Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter (PubMed:10587587). Phosphorylation by MARK3/cTAK1 at Ser-280 promotes association with 14-3-3/YWHA adapters and retention in the cytosol (PubMed:16822840). Phosphorylated at Ser-180 and Ser-516 following KIT signaling, triggering a short live activation: Phosphorylation at Ser-180 and Ser-516 by MAPK and RPS6KA1, respectively, activate the transcription factor activity but also promote ubiquitination and subsequent degradation by the proteasome (PubMed:10673502). Phosphorylated in response to blue light (415nm) (PubMed:28842328)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10673502"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}],"value":"Ubiquitinated by the SCF(BTRC) and SCF(FBXW11) complexes following phosphorylation ar Ser-5 by MTOR, leading to its degradation by the proteasome (PubMed:36608670). Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome (PubMed:10673502). Deubiquitinated by USP13, preventing its degradation (PubMed:10673502)"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Waardenburg syndrome 2A","diseaseAccession":"DI-01135","acronym":"WS2A","description":"WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.","diseaseCrossReference":{"database":"MIM","id":"193510"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28236341"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8589691"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9647758"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Tietz albinism-deafness syndrome","diseaseAccession":"DI-02369","acronym":"TADS","description":"An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness.","diseaseCrossReference":{"database":"MIM","id":"103500"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10851256"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Melanoma, cutaneous malignant 8","diseaseAccession":"DI-03341","acronym":"CMM8","description":"A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but may also involve other sites.","diseaseCrossReference":{"database":"MIM","id":"614456"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22012259"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22080950"}]},"note":{"texts":[{"value":"Disease susceptibility is associated with variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness","diseaseAccession":"DI-04925","acronym":"COMMAD","description":"An autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis.","diseaseCrossReference":{"database":"MIM","id":"617306"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27889061"}]},"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27889061"}],"value":"The disease is caused by variants affecting the gene represented in this entry. An allelic combination involving at least one dominant-negative mutation, inherited in a recessive manner, represents the underlying molecular mechanism leading to COMMAD syndrome"}]}},{"commentType":"DISEASE","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27680874"}],"value":"Variations affecting this gene are associated with susceptibility to pheochromocytomas and paragangliomas, rare neural crest-derived tumors with an approximate incidence of 1:300,000/year"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the MiT/TFE family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":526,"modifier":"EXACT"}},"description":"Microphthalmia-associated transcription factor","featureId":"PRO_0000127276"},{"type":"Domain","location":{"start":{"value":311,"modifier":"EXACT"},"end":{"value":364,"modifier":"EXACT"}},"description":"bHLH","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00981"}]},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":54,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":224,"modifier":"EXACT"},"end":{"value":295,"modifier":"EXACT"}},"description":"Transactivation"},{"type":"Region","location":{"start":{"value":374,"modifier":"EXACT"},"end":{"value":395,"modifier":"EXACT"}},"description":"Leucine-zipper","evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"24631970"}]},{"type":"Region","location":{"start":{"value":401,"modifier":"EXACT"},"end":{"value":431,"modifier":"EXACT"}},"description":"DNA-binding regulation"},{"type":"Region","location":{"start":{"value":496,"modifier":"EXACT"},"end":{"value":526,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":355,"modifier":"EXACT"},"end":{"value":402,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"24631970"}]},{"type":"Compositional bias","location":{"start":{"value":15,"modifier":"EXACT"},"end":{"value":25,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":41,"modifier":"EXACT"},"end":{"value":54,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":499,"modifier":"EXACT"},"end":{"value":509,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":5,"modifier":"EXACT"},"end":{"value":5,"modifier":"EXACT"}},"description":"Phosphoserine; 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uncertain significance; dbSNP:rs1559742541","featureCrossReferences":[{"database":"dbSNP","id":"rs1559742541"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28236341"}],"featureId":"VAR_078311","alternativeSequence":{"originalSequence":"A","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":310,"modifier":"EXACT"},"end":{"value":310,"modifier":"EXACT"}},"description":"in WS2A; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8589691"}],"featureId":"VAR_010297","alternativeSequence":{"originalSequence":"R","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":313,"modifier":"EXACT"},"end":{"value":313,"modifier":"EXACT"}},"description":"in COMMAD; has both cytoplasmic and nuclear localization; decreased binding to M-box or E-box DNA sequences; dbSNP:rs1057519325","featureCrossReferences":[{"database":"dbSNP","id":"rs1057519325"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27889061"}],"featureId":"VAR_077922","alternativeSequence":{"originalSequence":"K","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":317,"modifier":"EXACT"},"end":{"value":317,"modifier":"EXACT"}},"description":"in TADS; 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