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Entry version 204 (16 Oct 2019)
Sequence version 4 (13 Nov 2007)
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Protein

Transcription factor E3

Gene

TFE3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3') (By similarity). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF (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). May regulate lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 (PubMed:29146937).By similarity2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding
Biological processAdaptive immunity, Immunity, Transcription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

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SIGNORi
P19532

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transcription factor E3
Alternative name(s):
Class E basic helix-loop-helix protein 33
Short name:
bHLHe33
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TFE3
Synonyms:BHLHE33
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:11752 TFE3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
314310 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P19532

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

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.1 Publication
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 TFE3.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei178 – 179Breakpoint for translocation to form PRCC-TFE3 oncogene2
Sitei260 – 261Breakpoint for translocation to form ASPSCR1-TFE3 oncogene2
Sitei295 – 296Breakpoint for translocation to form NONO-TFE3, PSF-TFE3 and ASPSCR1-TFE3 oncogenes2

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNET

More...
DisGeNETi
7030

MalaCards human disease database

More...
MalaCardsi
TFE3

Open Targets

More...
OpenTargetsi
ENSG00000068323

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
163699 Alveolar soft tissue sarcoma
157791 Epithelioid hemangioendothelioma
319308 MiT family translocation renal cell carcinoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36467

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P19532

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TFE3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
160113240

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001274711 – 575Transcription factor E3Add BLAST575

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei188Asymmetric dimethylarginineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki339Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei542PhosphoserineCombined sources1
Modified residuei548PhosphoserineCombined sources1
Modified residuei554PhosphoserineBy similarity1
Modified residuei556PhosphoserineCombined sources1
Modified residuei560PhosphoserineCombined sources1
Modified residuei568PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylated; does not affect dimerization with MITF.1 Publication

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P19532

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P19532

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P19532

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P19532

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P19532

PeptideAtlas

More...
PeptideAtlasi
P19532

PRoteomics IDEntifications database

More...
PRIDEi
P19532

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
53672 [P19532-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P19532

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P19532

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous in fetal and adult tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000068323 Expressed in 230 organ(s), highest expression level in vagina

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P19532 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P19532 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA023881

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer and heterodimer; with TFEB or MITF.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
O153972EBI-1048957,EBI-358808

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112888, 25 interactors

Database of interacting proteins

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DIPi
DIP-50187N

Protein interaction database and analysis system

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IntActi
P19532, 10 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000314129

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P19532

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini346 – 399bHLHPROSITE-ProRule annotationAdd BLAST54

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni260 – 271Strong transcription activation domainSequence analysisAdd BLAST12
Regioni409 – 430Leucine-zipperAdd BLAST22

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the MiT/TFE family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1318 Eukaryota
ENOG410ZYYV LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157503

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231368

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P19532

KEGG Orthology (KO)

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KOi
K09105

Identification of Orthologs from Complete Genome Data

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OMAi
PGTATFH

Database of Orthologous Groups

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OrthoDBi
1211990at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P19532

TreeFam database of animal gene trees

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TreeFami
TF317174

Family and domain databases

Conserved Domains Database

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CDDi
cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR021802 MiT/TFE_C
IPR031867 MiT/TFE_N
IPR024100 TFE3

The PANTHER Classification System

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PANTHERi
PTHR45776:SF3 PTHR45776:SF3, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF11851 DUF3371, 1 hit
PF00010 HLH, 1 hit
PF15951 MITF_TFEB_C_3_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50888 BHLH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P19532-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSHAAEPARD GVEASAEGPR AVFVLLEERR PADSAQLLSL NSLLPESGIV
60 70 80 90 100
ADIELENVLD PDSFYELKSQ PLPLRSSLPI SLQATPATPA TLSASSSAGG
110 120 130 140 150
SRTPAMSSSS SSRVLLRQQL MRAQAQEQER RERREQAAAA PFPSPAPASP
160 170 180 190 200
AISVVGVSAG GHTLSRPPPA QVPREVLKVQ THLENPTRYH LQQARRQQVK
210 220 230 240 250
QYLSTTLGPK LASQALTPPP GPASAQPLPA PEAAHTTGPT GSAPNSPMAL
260 270 280 290 300
LTIGSSSEKE IDDVIDEIIS LESSYNDEML SYLPGGTTGL QLPSTLPVSG
310 320 330 340 350
NLLDVYSSQG VATPAITVSN SCPAELPNIK REISETEAKA LLKERQKKDN
360 370 380 390 400
HNLIERRRRF NINDRIKELG TLIPKSSDPE MRWNKGTILK ASVDYIRKLQ
410 420 430 440 450
KEQQRSKDLE SRQRSLEQAN RSLQLRIQEL ELQAQIHGLP VPPTPGLLSL
460 470 480 490 500
ATTSASDSLK PEQLDIEEEG RPGAATFHVG GGPAQNAPHQ QPPAPPSDAL
510 520 530 540 550
LDLHFPSDHL GDLGDPFHLG LEDILMEEEE GVVGGLSGGA LSPLRAASDP
560 570
LLSSVSPAVS KASSRRSSFS MEEES
Length:575
Mass (Da):61,521
Last modified:November 13, 2007 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iEF1F11AB624C6BE1
GO
Isoform 2 (identifier: P19532-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     77-109: SLPISLQATPATPATLSASSSAGGSRTPAMSSS → RGLQDPCHVVIFFIEGLAAAAANAGPGAGAGEA
     110-575: Missing.

Note: No experimental confirmation available.
Show »
Length:109
Mass (Da):11,363
Checksum:i619001F248C9F76E
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAA35714 differs from that shown. Reason: Frameshift.Curated
The sequence CAA65800 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti172V → M in CAA65800 (PubMed:8872474).Curated1
Sequence conflicti219P → S in CAA65800 (PubMed:8872474).Curated1
Sequence conflicti222P → K in CAA35714 (PubMed:2338243).Curated1
Sequence conflicti229P → L in CAA65800 (PubMed:8872474).Curated1
Sequence conflicti443P → G in CAA35714 (PubMed:2338243).Curated1
Sequence conflicti455A → T in CAA65800 (PubMed:8872474).Curated1
Sequence conflicti455A → T in CAA35714 (PubMed:2338243).Curated1
Sequence conflicti475A → R in CAA35714 (PubMed:2338243).Curated1
Sequence conflicti575S → M in CAA65800 (PubMed:8872474).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02750196S → C. Corresponds to variant dbSNP:rs5953258Ensembl.1
Natural variantiVAR_027502313T → A. Corresponds to variant dbSNP:rs3027470Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05688277 – 109SLPIS…AMSSS → RGLQDPCHVVIFFIEGLAAA AANAGPGAGAGEA in isoform 2. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_056883110 – 575Missing in isoform 2. 1 PublicationAdd BLAST466

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X96717 mRNA Translation: CAA65478.1
AL161985 mRNA Translation: CAI46207.1
AC146820 Genomic DNA No translation available.
AF196779 Genomic DNA No translation available.
BX572102 Genomic DNA No translation available.
X99721 Genomic DNA Translation: CAA68061.1
X97160, X97161, X97162 Genomic DNA Translation: CAA65800.1 Sequence problems.
X51330 mRNA Translation: CAA35714.1 Sequence problems.

The Consensus CDS (CCDS) project

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CCDSi
CCDS14315.3 [P19532-1]

Protein sequence database of the Protein Information Resource

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PIRi
A34596

NCBI Reference Sequences

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RefSeqi
NP_001269071.1, NM_001282142.1
NP_006512.2, NM_006521.5 [P19532-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000315869; ENSP00000314129; ENSG00000068323 [P19532-1]
ENST00000493583; ENSP00000476976; ENSG00000068323 [P19532-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
7030

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:7030

UCSC genome browser

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UCSCi
uc004dmb.5 human [P19532-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X96717 mRNA Translation: CAA65478.1
AL161985 mRNA Translation: CAI46207.1
AC146820 Genomic DNA No translation available.
AF196779 Genomic DNA No translation available.
BX572102 Genomic DNA No translation available.
X99721 Genomic DNA Translation: CAA68061.1
X97160, X97161, X97162 Genomic DNA Translation: CAA65800.1 Sequence problems.
X51330 mRNA Translation: CAA35714.1 Sequence problems.
CCDSiCCDS14315.3 [P19532-1]
PIRiA34596
RefSeqiNP_001269071.1, NM_001282142.1
NP_006512.2, NM_006521.5 [P19532-1]

3D structure databases

SMRiP19532
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112888, 25 interactors
DIPiDIP-50187N
IntActiP19532, 10 interactors
STRINGi9606.ENSP00000314129

PTM databases

iPTMnetiP19532
PhosphoSitePlusiP19532

Polymorphism and mutation databases

BioMutaiTFE3
DMDMi160113240

Proteomic databases

EPDiP19532
jPOSTiP19532
MassIVEiP19532
MaxQBiP19532
PaxDbiP19532
PeptideAtlasiP19532
PRIDEiP19532
ProteomicsDBi53672 [P19532-1]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
7030

Genome annotation databases

EnsembliENST00000315869; ENSP00000314129; ENSG00000068323 [P19532-1]
ENST00000493583; ENSP00000476976; ENSG00000068323 [P19532-2]
GeneIDi7030
KEGGihsa:7030
UCSCiuc004dmb.5 human [P19532-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
7030
DisGeNETi7030

GeneCards: human genes, protein and diseases

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GeneCardsi
TFE3
HGNCiHGNC:11752 TFE3
HPAiHPA023881
MalaCardsiTFE3
MIMi314310 gene
neXtProtiNX_P19532
OpenTargetsiENSG00000068323
Orphaneti163699 Alveolar soft tissue sarcoma
157791 Epithelioid hemangioendothelioma
319308 MiT family translocation renal cell carcinoma
PharmGKBiPA36467

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1318 Eukaryota
ENOG410ZYYV LUCA
GeneTreeiENSGT00940000157503
HOGENOMiHOG000231368
InParanoidiP19532
KOiK09105
OMAiPGTATFH
OrthoDBi1211990at2759
PhylomeDBiP19532
TreeFamiTF317174

Enzyme and pathway databases

SIGNORiP19532

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TFE3 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TFE3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
7030
PharosiP19532

Protein Ontology

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PROi
PR:P19532

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000068323 Expressed in 230 organ(s), highest expression level in vagina
ExpressionAtlasiP19532 baseline and differential
GenevisibleiP19532 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR021802 MiT/TFE_C
IPR031867 MiT/TFE_N
IPR024100 TFE3
PANTHERiPTHR45776:SF3 PTHR45776:SF3, 1 hit
PfamiView protein in Pfam
PF11851 DUF3371, 1 hit
PF00010 HLH, 1 hit
PF15951 MITF_TFEB_C_3_N, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTFE3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P19532
Secondary accession number(s): A8MZL6
, Q5JU74, Q92757, Q92758, Q99964
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: November 13, 2007
Last modified: October 16, 2019
This is version 204 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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