{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P19532","secondaryAccessions":["A8MZL6","Q5JU74","Q92757","Q92758","Q99964"],"uniProtkbId":"TFE3_HUMAN","entryAudit":{"firstPublicDate":"1991-02-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2007-11-13","entryVersion":237,"sequenceVersion":4},"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":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9393982"}],"value":"Transcription factor E3"}},"alternativeNames":[{"fullName":{"value":"Class E basic helix-loop-helix protein 33"},"shortNames":[{"value":"bHLHe33"}]}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9393982"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:11752"}],"value":"TFE3"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:11752"}],"value":"BHLHE33"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q64092"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2338243"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24448649"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29146937"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30733432"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31672913"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37079666"}],"value":"Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response (PubMed:2338243, PubMed:24448649, PubMed:29146937, PubMed:30733432, PubMed:31672913, PubMed:37079666). Specifically recognizes and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF (PubMed:24448649). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFE3 phosphorylation by MTOR promotes its inactivation (PubMed:24448649, PubMed:31672913, PubMed:36608670). Upon starvation or lysosomal stress, inhibition of MTOR induces TFE3 dephosphorylation, resulting in transcription factor activity (PubMed:24448649, PubMed:31672913, PubMed:36608670). Specifically recognizes and binds the CLEAR-box sequence (5'-GTCACGTGAC-3') present in the regulatory region of many lysosomal genes, leading to activate their expression, thereby playing a central role in expression of lysosomal genes (PubMed:24448649). Maintains the pluripotent state of embryonic stem cells by promoting the expression of genes such as ESRRB; mTOR-dependent TFE3 cytosolic retention and inactivation promotes exit from pluripotency (By similarity). Required to maintain the naive pluripotent state of hematopoietic stem cell; mTOR-dependent cytoplasmic retention of TFE3 promotes the exit of hematopoietic stem cell from pluripotency (PubMed:30733432). TFE3 activity is also involved in the inhibition of neuronal progenitor differentiation (By similarity). Acts as a positive regulator of browning of adipose tissue by promoting expression of target genes; mTOR-dependent phosphorylation promotes cytoplasmic retention of TFE3 and inhibits browning of adipose tissue (By similarity). In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity (By similarity). Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer (PubMed:2338243). It also binds very well to a USF/MLTF site (PubMed:2338243). Promotes TGF-beta-induced transcription of COL1A2; via its interaction with TSC22D1 at E-boxes in the gene proximal promoter (By similarity). May regulate lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 (PubMed:29146937)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q64092"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15507434"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1748288"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24448649"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}],"value":"Homodimer and heterodimer; with TFEB or MITF (PubMed:15507434, PubMed:1748288). Interacts with RRAGC/RagC GDP-bound and RRAGD/RagD GDP-bound; promoting its recruitment to lysosomal membrane in the presence of nutrients (PubMed:24448649, PubMed:36608670). Interacts with TSC22D1; the interaction is enhanced in the presence of TGF-beta (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P19532","intActId":"EBI-1048957"},"interactantTwo":{"uniProtKBAccession":"O15397","geneName":"IPO8","intActId":"EBI-358808"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P19532","intActId":"EBI-1048957"},"interactantTwo":{"uniProtKBAccession":"Q9UHA4","geneName":"LAMTOR3","intActId":"EBI-1038192"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P19532","intActId":"EBI-1048957"},"interactantTwo":{"uniProtKBAccession":"O75030","geneName":"MITF","intActId":"EBI-3910192"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P19532","intActId":"EBI-1048957"},"interactantTwo":{"uniProtKBAccession":"P63165","geneName":"SUMO1","intActId":"EBI-80140"},"numberOfExperiments":2,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22692423"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24448649"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30733432"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37079666"}],"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:24448649, PubMed:37079666). Phosphorylation by MTOR prevents nuclear translocation and promotes ubiquitination and degradation (PubMed:22692423, PubMed:30733432, PubMed:36608670, PubMed:37079666). Conversely, inhibition of mTORC1, starvation and lysosomal disruption, promotes dephosphorylation and translocation to the nucleus (PubMed:22692423, PubMed:30733432, PubMed:37079666)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21209915"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22692423"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24448649"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30733432"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37079666"}],"value":"Cytoplasm, cytosol","id":"SL-0091"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21209915"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22692423"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24448649"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30733432"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37079666"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24448649"}],"value":"Lysosome membrane","id":"SL-0157"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["P19532-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["P19532-2"],"sequenceIds":["VSP_056882","VSP_056883"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8986805"}],"value":"Ubiquitous in fetal and adult tissues"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15507434"}],"value":"Sumoylated; does not affect dimerization with MITF"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21209915"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24448649"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30733432"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}],"value":"Phosphorylation ar Ser-47 and Ser-321 by MTOR via non-canonical mTORC1 pathway regulates its stability and subcellular location, respectively (PubMed:21209915, PubMed:24448649, PubMed:30733432, PubMed:36608670). When nutrients are present, phosphorylation by MTOR at Ser-47 promotes ubiquitination by the SCF(BTRC) complex, followed by degradation (PubMed:36608670). When nutrients are present, phosphorylation by MTOR at Ser-321 also promotes association with 14-3-3/YWHA adapters and retention in the cytosol (PubMed:24448649, PubMed:30733432). Phosphorylation at Ser-47 plays a more critical role than phosphorylation at Ser-321 for TFE3 inactivation (PubMed:36608670). Inhibition of mTORC1, starvation and lysosomal disruption, promotes dephosphorylation and transcription factor activity (PubMed:30733432, PubMed:36608670)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}],"value":"Ubiquitinated by the SCF(BTRC) and SCF(FBXW11) complexes following phosphorylation at Ser-47 by MTOR, leading to its degradation by the proteasome"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies","diseaseAccession":"DI-06258","acronym":"MRXSPF","description":"A disorder characterized by severe developmental delay with impaired intellectual development and poor speech, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females.","diseaseCrossReference":{"database":"MIM","id":"301066"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30595499"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31833172"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32409512"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11358836"}],"value":"A chromosomal aberration involving TFE3 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with ASPSCR1 forms a ASPSCR1-TFE3 fusion protein"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Renal cell carcinoma Xp11-associated","diseaseAccession":"DI-03249","acronym":"RCCX1","description":"Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. RCCX1 histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed.","diseaseCrossReference":{"database":"MIM","id":"300854"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8872474"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8986805"}]},"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8872474"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8986805"}],"value":"Disease susceptibility is associated with variants affecting the gene represented in this entry. Chromosomal aberrations involving TFE3 are found in patients with papillary renal cell carcinoma. Translocation t(X;1)(p11.2;q21.2) with PRCC; translocation t(X;1)(p11.2;p34) with PSF; inversion inv(X)(p11.2;q12) that fuses NONO to TFE3"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the MiT/TFE family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Frameshift","sequence":"CAA35714.1","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous gene model prediction","sequence":"CAA65800.1","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"WEB RESOURCE","resourceName":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","resourceUrl":"https://atlasgeneticsoncology.org/gene/86/TFE3","ftp":false}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":575,"modifier":"EXACT"}},"description":"Transcription factor E3","featureId":"PRO_0000127471"},{"type":"Domain","location":{"start":{"value":346,"modifier":"EXACT"},"end":{"value":399,"modifier":"EXACT"}},"description":"bHLH","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00981"}]},{"type":"Region","location":{"start":{"value":90,"modifier":"EXACT"},"end":{"value":153,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":211,"modifier":"EXACT"},"end":{"value":246,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":260,"modifier":"EXACT"},"end":{"value":271,"modifier":"EXACT"}},"description":"Strong transcription activation domain","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Region","location":{"start":{"value":409,"modifier":"EXACT"},"end":{"value":430,"modifier":"EXACT"}},"description":"Leucine-zipper"},{"type":"Region","location":{"start":{"value":473,"modifier":"EXACT"},"end":{"value":498,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":534,"modifier":"EXACT"},"end":{"value":575,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Motif","location":{"start":{"value":356,"modifier":"EXACT"},"end":{"value":359,"modifier":"EXACT"}},"description":"Nuclear localization signal","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}]},{"type":"Compositional bias","location":{"start":{"value":90,"modifier":"EXACT"},"end":{"value":126,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":127,"modifier":"EXACT"},"end":{"value":136,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":539,"modifier":"EXACT"},"end":{"value":575,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Site","location":{"start":{"value":178,"modifier":"EXACT"},"end":{"value":179,"modifier":"EXACT"}},"description":"Breakpoint for translocation to form PRCC-TFE3 oncogene"},{"type":"Site","location":{"start":{"value":260,"modifier":"EXACT"},"end":{"value":261,"modifier":"EXACT"}},"description":"Breakpoint for translocation to form ASPSCR1-TFE3 oncogene"},{"type":"Site","location":{"start":{"value":295,"modifier":"EXACT"},"end":{"value":296,"modifier":"EXACT"}},"description":"Breakpoint for translocation to form NONO-TFE3, PSF-TFE3 and ASPSCR1-TFE3 oncogenes"},{"type":"Modified residue","location":{"start":{"value":47,"modifier":"EXACT"},"end":{"value":47,"modifier":"EXACT"}},"description":"Phosphoserine; by MTOR","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}]},{"type":"Modified residue","location":{"start":{"value":188,"modifier":"EXACT"},"end":{"value":188,"modifier":"EXACT"}},"description":"Asymmetric dimethylarginine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q64092"}]},{"type":"Modified residue","location":{"start":{"value":321,"modifier":"EXACT"},"end":{"value":321,"modifier":"EXACT"}},"description":"Phosphoserine; by MTOR","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24448649"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36608670"}]},{"type":"Modified residue","location":{"start":{"value":542,"modifier":"EXACT"},"end":{"value":542,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Modified residue","location":{"start":{"value":548,"modifier":"EXACT"},"end":{"value":548,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Modified residue","location":{"start":{"value":554,"modifier":"EXACT"},"end":{"value":554,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q64092"}]},{"type":"Modified residue","location":{"start":{"value":556,"modifier":"EXACT"},"end":{"value":556,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":560,"modifier":"EXACT"},"end":{"value":560,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"17081983"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":568,"modifier":"EXACT"},"end":{"value":568,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"}]},{"type":"Cross-link","location":{"start":{"value":339,"modifier":"EXACT"},"end":{"value":339,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"28112733"}]},{"type":"Alternative sequence","location":{"start":{"value":77,"modifier":"EXACT"},"end":{"value":109,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17974005"}],"featureId":"VSP_056882","alternativeSequence":{"originalSequence":"SLPISLQATPATPATLSASSSAGGSRTPAMSSS","alternativeSequences":["RGLQDPCHVVIFFIEGLAAAAANAGPGAGAGEA"]}},{"type":"Alternative sequence","location":{"start":{"value":110,"modifier":"EXACT"},"end":{"value":575,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17974005"}],"featureId":"VSP_056883","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":96,"modifier":"EXACT"},"end":{"value":96,"modifier":"EXACT"}},"description":"in dbSNP:rs5953258","featureCrossReferences":[{"database":"dbSNP","id":"rs5953258"}],"featureId":"VAR_027501","alternativeSequence":{"originalSequence":"S","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":117,"modifier":"EXACT"},"end":{"value":117,"modifier":"EXACT"}},"description":"in MRXSPF","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31833172"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32409512"}],"featureId":"VAR_086338","alternativeSequence":{"originalSequence":"R","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":119,"modifier":"EXACT"},"end":{"value":119,"modifier":"EXACT"}},"description":"in MRXSPF","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30595499"}],"featureId":"VAR_086339","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":184,"modifier":"EXACT"},"end":{"value":184,"modifier":"EXACT"}},"description":"in MRXSPF; 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