TFE3

Last updated
TFE3
Identifiers
Aliases TFE3 , RCCP2, RCCX1, TFEA, bHLHe33, transcription factor binding to IGHM enhancer 3, MRXSPF
External IDs OMIM: 314310; MGI: 98511; HomoloGene: 4755; GeneCards: TFE3; OMA:TFE3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001282142
NM_006521

RefSeq (protein)

NP_001269071
NP_006512

Location (UCSC) Chr X: 49.03 – 49.04 Mb Chr X: 7.63 – 7.64 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transcription factor E3 is a protein that in humans is encoded by the TFE3 gene. [5] [6] [7]

Contents

Function

TFE3, a member of the helix-loop-helix family of transcription factors, binds to the mu-E3 motif of the immunoglobulin heavy-chain enhancer and is expressed in many cell types (Henthorn et al., 1991).[supplied by OMIM] [7]

Interactions

TFE3 has been shown to interact with:

Translocations

A proportion of renal carcinomas (RCC) that occur in young patients are associated with translocations involving the TFE3 gene at chromosome Xp11.2 PRCC [ citation needed ]

Related Research Articles

<span class="mw-page-title-main">Basic helix–loop–helix</span> Protein structural motif

A basic helix–loop–helix (bHLH) is a protein structural motif that characterizes one of the largest families of dimerizing transcription factors. The word "basic" does not refer to complexity but to the chemistry of the motif because transcription factors in general contain basic amino acid residues in order to facilitate DNA binding.

<span class="mw-page-title-main">Mothers against decapentaplegic homolog 2</span> Protein found in humans

Mothers against decapentaplegic homolog 2, also known as SMAD family member 2 or SMAD2, is a protein that in humans is encoded by the SMAD2 gene. MAD homolog 2 belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways.

<span class="mw-page-title-main">Mothers against decapentaplegic homolog 3</span> Protein-coding gene in humans

Mothers against decapentaplegic homolog 3 also known as SMAD family member 3 or SMAD3 is a protein that in humans is encoded by the SMAD3 gene.

<span class="mw-page-title-main">Mothers against decapentaplegic homolog 4</span> Mammalian protein found in Homo sapiens

SMAD4, also called SMAD family member 4, Mothers against decapentaplegic homolog 4, or DPC4 is a highly conserved protein present in all metazoans. It belongs to the SMAD family of transcription factor proteins, which act as mediators of TGF-β signal transduction. The TGFβ family of cytokines regulates critical processes during the lifecycle of metazoans, with important roles during embryo development, tissue homeostasis, regeneration, and immune regulation.

<span class="mw-page-title-main">Mothers against decapentaplegic homolog 6</span> Protein-coding gene in the species Homo sapiens

SMAD family member 6, also known as SMAD6, is a protein that in humans is encoded by the SMAD6 gene.

<span class="mw-page-title-main">Microphthalmia-associated transcription factor</span> Mammalian protein found in humans

Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the MITF gene.

<span class="mw-page-title-main">SKI protein</span> Protein-coding gene in the species Homo sapiens

The SKI protein is a nuclear proto-oncogene that is associated with tumors at high cellular concentrations. SKI has been shown to interfere with normal cellular functioning by both directly impeding expression of certain genes inside the nucleus of the cell as well as disrupting signaling proteins that activate genes.

An E-box is a DNA response element found in some eukaryotes that acts as a protein-binding site and has been found to regulate gene expression in neurons, muscles, and other tissues. Its specific DNA sequence, CANNTG, with a palindromic canonical sequence of CACGTG, is recognized and bound by transcription factors to initiate gene transcription. Once the transcription factors bind to the promoters through the E-box, other enzymes can bind to the promoter and facilitate transcription from DNA to mRNA.

<span class="mw-page-title-main">Myocyte-specific enhancer factor 2A</span> Protein-coding gene in the species Homo sapiens

Myocyte-specific enhancer factor 2A is a protein that in humans is encoded by the MEF2A gene. MEF2A is a transcription factor in the Mef2 family. In humans it is located on chromosome 15q26. Certain mutations in MEF2A cause an autosomal dominant form of coronary artery disease and myocardial infarction.

<span class="mw-page-title-main">USF1</span> Protein-coding gene in the species Homo sapiens

Upstream stimulatory factor 1 is a protein that in humans is encoded by the USF1 gene.

<span class="mw-page-title-main">PAX8</span> Mammalian protein found in humans

Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.

<span class="mw-page-title-main">NFAT5</span> Mammalian protein found in Homo sapiens

Nuclear factor of activated T-cells 5, also known as NFAT5 and sometimes TonEBP, is a human gene that encodes a transcription factor that regulates the expression of genes involved in the osmotic stress.

<span class="mw-page-title-main">PIAS3</span> Protein-coding gene in the species Homo sapiens

E3 SUMO-protein ligase PIAS3 is an enzyme that in humans is encoded by the PIAS3 gene.

<span class="mw-page-title-main">FOXG1</span> Protein-coding gene in the species Homo sapiens

Forkhead box protein G1 is a protein that in humans is encoded by the FOXG1 gene.

<span class="mw-page-title-main">HLTF</span> Protein-coding gene in the species Homo sapiens

Helicase-like transcription factor is an enzyme that in humans is encoded by the HLTF gene.

<span class="mw-page-title-main">PRCC (gene)</span> Protein-coding gene in the species Homo sapiens

Proline-rich protein PRCC is a protein that, in humans, is encoded by the PRCC gene.

<span class="mw-page-title-main">TFEB</span> Protein-coding gene in the species Homo sapiens

Transcription factor EB is a protein that in humans is encoded by the TFEB gene.

<span class="mw-page-title-main">TFEC</span> Protein-coding gene in the species Homo sapiens

Transcription factor EC is a protein that in humans is encoded by the TFEC gene.

<span class="mw-page-title-main">Clear cell papillary renal cell carcinoma</span> Medical condition

Clear cell papillary renal cell carcinoma (CCPRCC) is a rare subtype of renal cell carcinoma (RCC) that has microscopic morphologic features of papillary renal cell carcinoma and clear cell renal cell carcinoma, yet is pathologically distinct based on molecular changes and immunohistochemistry.

<span class="mw-page-title-main">Papillary renal cell carcinoma</span> Medical condition

Papillary renal cell carcinoma (PRCC) is a malignant, heterogeneous tumor originating from renal tubular epithelial cells of the kidney, which comprises approximately 10-15% of all kidney neoplasms. Based on its morphological features, PRCC can be classified into two main subtypes, which are type 1 (basophilic) and type 2 (eosinophilic).

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000068323 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000000134 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Puck JM, Stewart CC, Henthorn PS (May 1991). "A high-frequency RFLP at the human TFE3 locus on the X chromosome". Nucleic Acids Res. 19 (3): 684. doi:10.1093/nar/19.3.684-a. PMC   333678 . PMID   1672758.
  6. Henthorn PS, Stewart CC, Kadesch T, Puck JM (Feb 1992). "The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22". Genomics. 11 (2): 374–8. doi:10.1016/0888-7543(91)90145-5. PMID   1685140.
  7. 1 2 "Entrez Gene: TFE3 transcription factor binding to IGHM enhancer 3".
  8. Giangrande PH, Hallstrom TC, Tunyaplin C, Calame K, Nevins JR (Jun 2003). "Identification of E-box factor TFE3 as a functional partner for the E2F3 transcription factor". Mol. Cell. Biol. 23 (11): 3707–20. doi:10.1128/mcb.23.11.3707-3720.2003. PMC   155231 . PMID   12748276.
  9. Steingrimsson E, Tessarollo L, Pathak B, Hou L, Arnheiter H, Copeland NG, Jenkins NA (Apr 2002). "Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development". Proc. Natl. Acad. Sci. U.S.A. 99 (7): 4477–82. Bibcode:2002PNAS...99.4477S. doi: 10.1073/pnas.072071099 . PMC   123673 . PMID   11930005.
  10. Mansky KC, Sulzbacher S, Purdom G, Nelsen L, Hume DA, Rehli M, Ostrowski MC (Feb 2002). "The microphthalmia transcription factor and the related helix-loop-helix zipper factors TFE-3 and TFE-C collaborate to activate the tartrate-resistant acid phosphatase promoter". J. Leukoc. Biol. 71 (2): 304–10. doi: 10.1189/jlb.71.2.304 . PMID   11818452. S2CID   22801820.
  11. Grinberg AV, Kerppola T (Mar 2003). "Both Max and TFE3 cooperate with Smad proteins to bind the plasminogen activator inhibitor-1 promoter, but they have opposite effects on transcriptional activity". J. Biol. Chem. 278 (13): 11227–36. doi: 10.1074/jbc.M211734200 . PMID   12551947.
  12. Hua X, Miller ZA, Wu G, Shi Y, Lodish HF (Nov 1999). "Specificity in transforming growth factor beta-induced transcription of the plasminogen activator inhibitor-1 gene: interactions of promoter DNA, transcription factor muE3, and Smad proteins". Proc. Natl. Acad. Sci. U.S.A. 96 (23): 13130–5. Bibcode:1999PNAS...9613130H. doi: 10.1073/pnas.96.23.13130 . PMC   23912 . PMID   10557285.

Further reading