TFE3

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
Gene location (Human)
Chr.	X chromosome (human)
End	49,043,410 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	7,641,441 bp
RNA expression pattern
	Top expressed in
	inferior olivary nucleus; ; olfactory bulb; ; seminal vesicula; ; stromal cell of endometrium; ; secondary oocyte; ; left uterine tube; ; external globus pallidus; ; saphenous vein; ; blood; ; left adrenal gland;
	Top expressed in
	secondary oocyte; ; thin ascending limb of loop of Henle; ; molar; ; cumulus cell; ; ankle; ; yolk sac; ; lacrimal gland; ; submandibular gland; ; lip; ; ascending aorta;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	RNA polymerase II cis-regulatory region sequence-specific DNA binding ; DNA-binding transcription factor activity ; protein dimerization activity ; DNA binding ; DNA-binding transcription activator activity, RNA polymerase II-specific ; protein binding ; DNA-binding transcription factor activity, RNA polymerase II-specific ;
Cellular component	nucleoplasm ; nucleus ; cytosol ;
Biological process	positive regulation of cell adhesion ; transcription, DNA-templated ; transcription by RNA polymerase II ; regulation of transcription, DNA-templated ; adaptive immune response ; regulation of osteoclast differentiation ; immune system process ; positive regulation of transcription, DNA-templated ; positive regulation of transcription by RNA polymerase II ; humoral immune response ; negative regulation of cold-induced thermogenesis ;
	Sources:Amigo / QuickGO
Orthologs
	7030
	209446
	ENSG00000068323
	ENSMUSG00000000134
	P19532
	Q64092
	NM_001282142 ; NM_006521
NM_001105196 ; NM_001105197 ; NM_001271489 ; NM_001271490 ; NM_001271491 ;
	NM_172472
	NP_001269071 ; NP_006512
NP_001098666 ; NP_001098667 ; NP_001258418 ; NP_001258419 ; NP_001258420 ;
	NP_766060
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated January 06, 2024

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

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

Related Research Articles

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.

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.

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.

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

Smads comprise a family of structurally similar proteins that are the main signal transducers for receptors of the transforming growth factor beta (TGF-B) superfamily, which are critically important for regulating cell development and growth. The abbreviation refers to the homologies to the Caenorhabditis elegans SMA and MAD family of genes in Drosophila.

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.

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.

HNF1 homeobox B, also known as HNF1B or transcription factor 2 (TCF2), is a human gene.

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.

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

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

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

Mitotic spindle assembly checkpoint protein MAD2B is a protein that in humans is encoded by the MAD2L2 gene.

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

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

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

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

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

Tether containing UBX domain for GLUT4 (TUG) is a protein that in humans is encoded by the ASPSCR1 gene.

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000068323 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000000134 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 "Entrez Gene: TFE3 transcription factor binding to IGHM enhancer 3".
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.

Beckmann H, Kadesch T (1991). "The leucine zipper of TFE3 dictates helix-loop-helix dimerization specificity". Genes Dev. 5 (6): 1057–66. doi: 10.1101/gad.5.6.1057 . PMID 2044953.
Beckmann H, Su LK, Kadesch T (1990). "TFE3: a helix-loop-helix protein that activates transcription through the immunoglobulin enhancer muE3 motif". Genes Dev. 4 (2): 167–79. doi: 10.1101/gad.4.2.167 . PMID 2338243.
Zhao GQ, Zhao Q, Zhou X, Mattei MG, de Crombrugghe B (1993). "TFEC, a basic helix-loop-helix protein, forms heterodimers with TFE3 and inhibits TFE3-dependent transcription activation". Mol. Cell. Biol. 13 (8): 4505–12. doi:10.1128/mcb.13.8.4505. PMC 360062 . PMID 8336698.
Sidhar SK, Clark J, Gill S, Hamoudi R, Crew AJ, Gwilliam R, Ross M, Linehan WM, Birdsall S, Shipley J, Cooper CS (1997). "The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene". Hum. Mol. Genet. 5 (9): 1333–8. doi: 10.1093/hmg/5.9.1333 . PMID 8872474.
Weterman MA, Wilbrink M, Geurts van Kessel A (1997). "Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas". Proc. Natl. Acad. Sci. U.S.A. 93 (26): 15294–8. doi: 10.1073/pnas.93.26.15294 . PMC 26398 . PMID 8986805.
Clark J, Lu YJ, Sidhar SK, Parker C, Gill S, Smedley D, Hamoudi R, Linehan WM, Shipley J, Cooper CS (1997). "Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma". Oncogene. 15 (18): 2233–9. doi: 10.1038/sj.onc.1201394 . PMID 9393982.
Hua X, Liu X, Ansari DO, Lodish HF (1998). "Synergistic cooperation of TFE3 and smad proteins in TGF-beta-induced transcription of the plasminogen activator inhibitor-1 gene". Genes Dev. 12 (19): 3084–95. doi:10.1101/gad.12.19.3084. PMC 317197 . PMID 9765209.
Steingrímsson E, Tessarollo L, Reid SW, Jenkins NA, Copeland NG (1999). "The bHLH-Zip transcription factor Tfeb is essential for placental vascularization". Development. 125 (23): 4607–16. doi: 10.1242/dev.125.23.4607 . PMID 9806910.
Hua X, Miller ZA, Wu G, Shi Y, Lodish HF (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.
Weterman MJ, van Groningen JJ, Jansen A, van Kessel AG (2000). "Nuclear localization and transactivating capacities of the papillary renal cell carcinoma-associated TFE3 and PRCC (fusion) proteins". Oncogene. 19 (1): 69–74. doi: 10.1038/sj.onc.1203255 . PMID 10644981.
Hua X, Miller ZA, Benchabane H, Wrana JL, Lodish HF (2000). "Synergism between transcription factors TFE3 and Smad3 in transforming growth factor-beta-induced transcription of the Smad7 gene". J. Biol. Chem. 275 (43): 33205–8. doi: 10.1074/jbc.C000568200 . PMID 10973944.
Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Dal Cin P, Bridge J (2001). "The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25". Oncogene. 20 (1): 48–57. doi: 10.1038/sj.onc.1204074 . PMID 11244503.
Weterman MA, van Groningen JJ, den Hartog A, Geurts van Kessel A (2001). "Transformation capacities of the papillary renal cell carcinoma-associated PRCCTFE3 and TFE3PRCC fusion genes". Oncogene. 20 (12): 1414–24. doi:10.1038/sj.onc.1204213. PMID 11313885. S2CID 2671248.
Heimann P, El Housni H, Ogur G, Weterman MA, Petty EM, Vassart G (2001). "Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas". Cancer Res. 61 (10): 4130–5. PMID 11358836.
Chung MC, Kim HK, Kawamoto S (2001). "TFEC can function as a transcriptional activator of the nonmuscle myosin II heavy chain-A gene in transfected cells". Biochemistry. 40 (30): 8887–97. doi:10.1021/bi002847d. PMID 11467950.
Dintilhac A, Bernués J (2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". J. Biol. Chem. 277 (9): 7021–8. doi: 10.1074/jbc.M108417200 . hdl: 10261/112516 . PMID 11748221.
Kawata Y, Suzuki H, Higaki Y, Denisenko O, Schullery D, Abrass C, Bomsztyk K (2002). "bcn-1 Element-dependent activation of the laminin gamma 1 chain gene by the cooperative action of transcription factor E3 (TFE3) and Smad proteins". J. Biol. Chem. 277 (13): 11375–84. doi: 10.1074/jbc.M111284200 . PMID 11801598.
Steingrimsson E, Tessarollo L, Pathak B, Hou L, Arnheiter H, Copeland NG, Jenkins NA (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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000068323 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid1672758-5] 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.

[pmid1685140-6] 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.

[entrez-7] 1 2 "Entrez Gene: TFE3 transcription factor binding to IGHM enhancer 3".

[pmid12748276-8] 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.

[pmid11930005-9] 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.

[pmid11818452-10] 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.

[pmid12551947-11] 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.

[pmid10557285-12] 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.

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