Seroatlas · Human Serome Atlas

TFE3

Transcription factor E3

Also known as: bHLHe33, TFE3_HUMAN, TFEA

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P19532
Gene
TFE3
Ensembl
ENSG00000068323
Chromosome
X
Canonical length
575 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

575 residues, UniProt reviewed canonical sequence.

>P19532|TFE3
     1  MSHAAEPARD GVEASAEGPR AVFVLLEERR PADSAQLLSL NSLLPESGIV ADIELENVLD
    61  PDSFYELKSQ PLPLRSSLPI SLQATPATPA TLSASSSAGG SRTPAMSSSS SSRVLLRQQL
   121  MRAQAQEQER RERREQAAAA PFPSPAPASP AISVVGVSAG GHTLSRPPPA QVPREVLKVQ
   181  THLENPTRYH LQQARRQQVK QYLSTTLGPK LASQALTPPP GPASAQPLPA PEAAHTTGPT
   241  GSAPNSPMAL LTIGSSSEKE IDDVIDEIIS LESSYNDEML SYLPGGTTGL QLPSTLPVSG
   301  NLLDVYSSQG VATPAITVSN SCPAELPNIK REISETEAKA LLKERQKKDN HNLIERRRRF
   361  NINDRIKELG TLIPKSSDPE MRWNKGTILK ASVDYIRKLQ KEQQRSKDLE SRQRSLEQAN
   421  RSLQLRIQEL ELQAQIHGLP VPPTPGLLSL ATTSASDSLK PEQLDIEEEG RPGAATFHVG
   481  GGPAQNAPHQ QPPAPPSDAL LDLHFPSDHL GDLGDPFHLG LEDILMEEEE GVVGGLSGGA
   541  LSPLRAASDP LLSSVSPAVS KASSRRSSFS MEEES

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TFE3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.66
Highest tissue expression
39 nTPM

Expression across tissuesHPA

Tissue

  • adipose tissue: 39 nTPM
  • lung: 39 nTPM
  • adrenal gland: 37 nTPM
  • blood vessel: 37 nTPM
  • ovary: 36 nTPM
  • fallopian tube: 35 nTPM

Single-cell type

  • neutrophils: 188 nCPM
  • hepatic stellate cells: 58 nCPM
  • syncytiotrophoblasts: 56 nCPM
  • epididymal basal cells: 50 nCPM
  • neutrophil progenitors: 49 nCPM
  • monocytes: 47 nCPM

Immune cell

  • neutrophil: 13 nTPM
  • non-classical monocyte: 6.3 nTPM
  • classical monocyte: 4.8 nTPM
  • intermediate monocyte: 4.7 nTPM
  • total PBMC: 2.6 nTPM
  • myeloid DC: 2.2 nTPM

Brain region

  • medulla oblongata: 64 nTPM
  • thalamus: 54 nTPM
  • midbrain: 51 nTPM
  • hypothalamus: 48 nTPM
  • pons: 46 nTPM
  • cerebral cortex: 44 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TFE3.

Disease | AllUniProt

Conditions TFE3 is implicated in, by any mechanism.

  • Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies (MRXSPF) MIM:301066
  • Renal cell carcinoma Xp11-associated (RCCX1) MIM:300854

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 166 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.29
gnomAD pLI
0.98
gnomAD missense Z
2.15
DepMap mean gene effect
-0.03
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TFE3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TFE3 as an antibody target. Whether an autoantibody or antibody against TFE3 could matter depends on whether native TFE3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TFE3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TFE3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TFE3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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