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Protein

Transcription factor E3

Gene

TFE3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor that 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. 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. Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer. It also binds very well to a USF/MLTF site.

GO - Molecular functioni

GO - Biological processi

  • adaptive immune response Source: UniProtKB-KW
  • humoral immune response Source: UniProtKB
  • positive regulation of cell adhesion Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • regulation of osteoclast differentiation Source: InterPro
  • transcription from RNA polymerase II promoter Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Adaptive immunity, Immunity, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000068323-MONOMER.
SIGNORiP19532.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor E3
Alternative name(s):
Class E basic helix-loop-helix protein 33
Short name:
bHLHe33
Gene namesi
Name:TFE3
Synonyms:BHLHE33
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:11752. TFE3.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

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.

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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi7030.
MalaCardsiTFE3.
OpenTargetsiENSG00000068323.
Orphaneti163699. Alveolar soft-tissue sarcoma.
319308. Translocation renal cell carcinoma.
PharmGKBiPA36467.

Polymorphism and mutation databases

DMDMi160113240.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001274711 – 575Transcription factor E3Add BLAST575

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei188Asymmetric dimethylarginineBy similarity1
Modified residuei542PhosphoserineCombined sources1
Modified residuei548PhosphoserineCombined sources1
Modified residuei554PhosphoserineBy similarity1
Modified residuei556PhosphoserineCombined sources1
Modified residuei560PhosphoserineCombined sources1
Modified residuei568PhosphoserineCombined sources1

Post-translational modificationi

Sumoylated; does not affect dimerization with MITF.1 Publication

Keywords - PTMi

Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP19532.
MaxQBiP19532.
PaxDbiP19532.
PeptideAtlasiP19532.
PRIDEiP19532.

PTM databases

iPTMnetiP19532.
PhosphoSitePlusiP19532.

Expressioni

Tissue specificityi

Ubiquitous in fetal and adult tissues.

Gene expression databases

BgeeiENSG00000068323.
CleanExiHS_TFE3.
ExpressionAtlasiP19532. baseline and differential.
GenevisibleiP19532. HS.

Organism-specific databases

HPAiHPA023881.

Interactioni

Subunit structurei

Homodimer and heterodimer; with TFEB or MITF.

Protein-protein interaction databases

BioGridi112888. 24 interactors.
DIPiDIP-50187N.
IntActiP19532. 4 interactors.
STRINGi9606.ENSP00000314129.

Structurei

3D structure databases

ProteinModelPortaliP19532.
SMRiP19532.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini346 – 399bHLHPROSITE-ProRule annotationAdd BLAST54

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni260 – 271Strong transcription activation domainSequence analysisAdd BLAST12
Regioni409 – 430Leucine-zipperAdd BLAST22

Sequence similaritiesi

Belongs to the MiT/TFE family.Curated
Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1318. Eukaryota.
ENOG410ZYYV. LUCA.
GeneTreeiENSGT00390000004402.
HOGENOMiHOG000231368.
HOVERGENiHBG006768.
InParanoidiP19532.
KOiK09105.
OMAiPGTATFH.
OrthoDBiEOG091G0QCO.
PhylomeDBiP19532.
TreeFamiTF317174.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR021802. MiT/TFE_C.
IPR031867. MiT/TFE_N.
IPR024100. TFE3.
[Graphical view]
PANTHERiPTHR12565:SF163. PTHR12565:SF163. 2 hits.
PfamiPF11851. DUF3371. 1 hit.
PF00010. HLH. 1 hit.
PF15951. MITF_TFEB_C_3_N. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P19532-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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

Sequence cautioni

The sequence CAA35714 differs from that shown. Reason: Frameshift at position 557.Curated
The sequence CAA65800 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_02750196S → C.Corresponds to variant rs5953258dbSNPEnsembl.1
Natural variantiVAR_027502313T → A.Corresponds to variant rs3027470dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.730740.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

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]
UniGeneiHs.730740.

3D structure databases

ProteinModelPortaliP19532.
SMRiP19532.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112888. 24 interactors.
DIPiDIP-50187N.
IntActiP19532. 4 interactors.
STRINGi9606.ENSP00000314129.

PTM databases

iPTMnetiP19532.
PhosphoSitePlusiP19532.

Polymorphism and mutation databases

DMDMi160113240.

Proteomic databases

EPDiP19532.
MaxQBiP19532.
PaxDbiP19532.
PeptideAtlasiP19532.
PRIDEiP19532.

Protocols and materials databases

DNASUi7030.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi7030.
DisGeNETi7030.
GeneCardsiTFE3.
HGNCiHGNC:11752. TFE3.
HPAiHPA023881.
MalaCardsiTFE3.
MIMi314310. gene.
neXtProtiNX_P19532.
OpenTargetsiENSG00000068323.
Orphaneti163699. Alveolar soft-tissue sarcoma.
319308. Translocation renal cell carcinoma.
PharmGKBiPA36467.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1318. Eukaryota.
ENOG410ZYYV. LUCA.
GeneTreeiENSGT00390000004402.
HOGENOMiHOG000231368.
HOVERGENiHBG006768.
InParanoidiP19532.
KOiK09105.
OMAiPGTATFH.
OrthoDBiEOG091G0QCO.
PhylomeDBiP19532.
TreeFamiTF317174.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000068323-MONOMER.
SIGNORiP19532.

Miscellaneous databases

ChiTaRSiTFE3. human.
GeneWikiiTFE3.
GenomeRNAii7030.
PROiP19532.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000068323.
CleanExiHS_TFE3.
ExpressionAtlasiP19532. baseline and differential.
GenevisibleiP19532. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR021802. MiT/TFE_C.
IPR031867. MiT/TFE_N.
IPR024100. TFE3.
[Graphical view]
PANTHERiPTHR12565:SF163. PTHR12565:SF163. 2 hits.
PfamiPF11851. DUF3371. 1 hit.
PF00010. HLH. 1 hit.
PF15951. MITF_TFEB_C_3_N. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTFE3_HUMAN
AccessioniPrimary (citable) accession number: P19532
Secondary accession number(s): A8MZL6
, Q5JU74, Q92757, Q92758, Q99964
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: November 13, 2007
Last modified: November 30, 2016
This is version 181 of the entry and version 4 of the sequence. [Complete history]
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.

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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.