TFEB

Transcription factor EB

Identifiers

TFEB; ALPHATFEB; BHLHE35; TCFEB

External IDs

OMIM: 600744 MGI: 103270 HomoloGene: 5182 GeneCards: TFEB Gene

Gene Ontology
Molecular function	• DNA binding • sequence-specific DNA binding transcription factor activity • sequence-specific DNA binding transcription factor activity • transcription regulatory region DNA binding • protein heterodimerization activity
Cellular component	• nucleus • nucleus • transcription factor complex • cytoplasm
Biological process	• embryonic placenta development • transcription, DNA-dependent • transcription, DNA-dependent • regulation of transcription, DNA-dependent • humoral immune response • positive regulation of transcription from RNA polymerase II promoter
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 6:
41.65 – 41.7 Mb

Chr 17:
47.87 – 47.93 Mb

PubMed search

[1]

[2]

Transcription factor EB is a protein that in humans is encoded by the TFEB gene.^[1]^[2]

Function

TFEB is a master gene for lysosomal biogenesis. This transcription factor coordinates expression of lysosomal genes and genes involved in autophagy. Nuclear localization and activity of TFEB are regulated by serine phosphorylation and extracellular signal–regulated kinase 2 (ERK2) is the enzyme that phosphorylates TFEB. In turn, ERK2 is tuned to the levels of extracellular nutrients suggesting a coordination in regulation of autophagy and lysomal biogenesis and partnership of two distinct cellular organelles.^[3]

References

^ Carr CS, Sharp PA (Aug 1990). "A helix-loop-helix protein related to the immunoglobulin E box-binding proteins". Mol Cell Biol 10 (8): 4384–8. PMC 360994. PMID 2115126. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=360994.
^ "Entrez Gene: TFEB transcription factor EB". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7942.
^ Settembre C, Di Malta C, Polito VA, Arencibia MG, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A (May 2011). "TFEB Links Autophagy to Lysosomal Biogenesis". Science 332 (6036): 1429–33. doi:10.1126/science.1204592. PMID 21617040.

Steingrímsson E, Sawadogo M, Gilbert DJ, et al. (1996). "Murine chromosomal location of five bHLH-Zip transcription factor genes". Genomics 28 (2): 179–83. doi:10.1006/geno.1995.1129. PMID 8530024.
Steingrímsson E, Tessarollo L, Reid SW, et al. (1999). "The bHLH-Zip transcription factor Tfeb is essential for placental vascularization". Development 125 (23): 4607–16. PMID 9806910.
Verastegui C, Bertolotto C, Bille K, et al. (2000). "TFE3, a transcription factor homologous to microphthalmia, is a potential transcriptional activator of tyrosinase and TyrpI genes". Mol. Endocrinol. 14 (3): 449–56. doi:10.1210/me.14.3.449. PMID 10707962.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
Davis IJ, Hsi BL, Arroyo JD, et al. (2003). "Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation". Proc. Natl. Acad. Sci. U.S.A. 100 (10): 6051–6. doi:10.1073/pnas.0931430100. PMC 156324. PMID 12719541. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=156324.
Kuiper RP, Schepens M, Thijssen J, et al. (2003). "Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution". Hum. Mol. Genet. 12 (14): 1661–9. doi:10.1093/hmg/ddg178. PMID 12837690.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Kuiper RP, Schepens M, Thijssen J, et al. (2004). "Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains". Nucleic Acids Res. 32 (8): 2315–22. doi:10.1093/nar/gkh571. PMC 419459. PMID 15118077. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=419459.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
Argani P, Laé M, Hutchinson B, et al. (2005). "Renal carcinomas with the t(6;11)(p21;q12): clinicopathologic features and demonstration of the specific alpha-TFEB gene fusion by immunohistochemistry, RT-PCR, and DNA PCR". Am. J. Surg. Pathol. 29 (2): 230–40. doi:10.1097/01.pas.0000146007.54092.37. PMID 15644781.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Pecciarini L, Cangi MG, Lo Cunsolo C, et al. (2007). "Characterization of t(6;11)(p21;q12) in a renal-cell carcinoma of an adult patient". Genes Chromosomes Cancer 46 (5): 419–26. doi:10.1002/gcc.20422. PMID 17285572.

TFEB

Function

References

Further reading