Gene Symbol: USP6
Description: ubiquitin specific peptidase 6
Alias: HRP1, TRE17, TRE2, TRESMCR, Tre-2, USP6-short, ubiquitin carboxyl-terminal hydrolase 6, TBC1D3 and USP32 fusion, deubiquitinating enzyme 6, hyperpolymorphic gene 1, proto-oncogene TRE-2, ubiquitin specific peptidase 6 (Tre-2 oncogene), ubiquitin specific protease 6 (Tre-2 oncogene), ubiquitin thioesterase 6, ubiquitin thiolesterase 6, ubiquitin-specific protease USP6, ubiquitin-specific-processing protease 6
Species: human
Products:     USP6

Top Publications

  1. Akhavantabasi S, Akman H, Sapmaz A, Keller J, Petty E, Erson A. USP32 is an active, membrane-bound ubiquitin protease overexpressed in breast cancers. Mamm Genome. 2010;21:388-97 pubmed publisher
    ..but uncharacterized gene that gave rise during evolution to a well-known hominoid-specific proto-oncogene, USP6. We investigated the expression profile of USP32 in human tissues and examined its functions to gain insight into ..
  2. Papa F, Hochstrasser M. The yeast DOA4 gene encodes a deubiquitinating enzyme related to a product of the human tre-2 oncogene. Nature. 1993;366:313-9 pubmed
    ..The human tre-2 oncogene encodes a deubiquitinating enzyme similar to Doa4, indicating a role for the ubiquitin system in mammalian growth control. ..
  3. Oliveira A, Perez Atayde A, Inwards C, Medeiros F, Derr V, Hsi B, et al. USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cysts. Am J Pathol. 2004;165:1773-80 pubmed
    ..ABC was evidenced by demonstration of clonal chromosome band 17p13 translocations that place the USP6 (TRE2 or TRE17) oncogene under the regulatory influence of the highly active CDH11 promoter...
  4. Nakamura T, Hillova J, Mariage Samson R, Onno M, Huebner K, Cannizzaro L, et al. A novel transcriptional unit of the tre oncogene widely expressed in human cancer cells. Oncogene. 1992;7:733-41 pubmed
    ..When used as probe, the cloned sequence detected RNA transcripts in a wide variety of human cancer cells regardless of their lineage of origin from different tissues, but not in human cells from normal tissue. ..
  5. Oliveira A, Hsi B, Weremowicz S, Rosenberg A, Dal Cin P, Joseph N, et al. USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst. Cancer Res. 2004;64:1920-3 pubmed
    ..cadherin 11 gene (CDH11) promoter region on 16q22 is juxtaposed to the entire ubiquitin-specific protease USP6 (Tre2) coding sequence on 17p13...
  6. Martinu L, Masuda Robens J, Robertson S, Santy L, Casanova J, Chou M. The TBC (Tre-2/Bub2/Cdc16) domain protein TRE17 regulates plasma membrane-endosomal trafficking through activation of Arf6. Mol Cell Biol. 2004;24:9752-62 pubmed
    ..Here we show that TRE17 (also called Tre-2 and USP6), a founding member of the TBC family, targets the Arf family GTPase Arf6, which ..
  7. Bizimungu C, Thomas A, Brasseur R, Vandenbol M. Mutational analysis of the TRE2 oncogene encoding an inactive RabGAP. Biotechnol Lett. 2007;29:1927-37 pubmed
    The TRE2 oncoprotein is structurally related to the RabGAP (GTPase-activating protein) family. However, TRE2 seems enzymatically inactive. Two regions are important for its lack of GAP activity...
  8. Sukov W, Franco M, Erickson Johnson M, Chou M, Unni K, Wenger D, et al. Frequency of USP6 rearrangements in myositis ossificans, brown tumor, and cherubism: molecular cytogenetic evidence that a subset of "myositis ossificans-like lesions" are the early phases in the formation of soft-tissue aneurysmal bone cys. Skeletal Radiol. 2008;37:321-7 pubmed publisher
    b>USP6 rearrangements with several partner genes have been identified recently in primary but not in secondary aneurysmal bone cysts (ABCs)...
  9. Ye Y, Pringle L, Lau A, Riquelme D, Wang H, Jiang T, et al. TRE17/USP6 oncogene translocated in aneurysmal bone cyst induces matrix metalloproteinase production via activation of NF-kappaB. Oncogene. 2010;29:3619-29 pubmed publisher
    ..Recent work revealed that ABCs harbor translocation of TRE17/USP6, leading to its transcriptional upregulation...

More Information

Publications105 found, 100 shown here

  1. Oliveira A, Perez Atayde A, Dal Cin P, Gebhardt M, Chen C, Neff J, et al. Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes. Oncogene. 2005;24:3419-26 pubmed
    ..ABC 17p13 rearrangements--t(16;17)(q22;p13)--was recently shown to create a CDH11-USP6 fusion in which the USP6/TRE17 oncogene is overexpressed through juxtaposition with the CDH11 promoter...
  2. Bizimungu C, Vandenbol M. At least two regions of the oncoprotein Tre2 are involved in its lack of GAP activity. Biochem Biophys Res Commun. 2005;335:883-90 pubmed
    The product of the human Tre2 oncogene is structurally related to the Ypt/Rab GTPase-activating proteins (Ypt/Rab GAPs)...
  3. Shen C, Ye Y, Robertson S, Lau A, Mak D, Chou M. Calcium/calmodulin regulates ubiquitination of the ubiquitin-specific protease TRE17/USP6. J Biol Chem. 2005;280:35967-73 pubmed
    The TRE17 (USP6/TRE-2) oncogene induces tumorigenesis in both humans and mice. However, little is known regarding its regulation or mechanism of transformation...
  4. Paulding C, Ruvolo M, Haber D. The Tre2 (USP6) oncogene is a hominoid-specific gene. Proc Natl Acad Sci U S A. 2003;100:2507-11 pubmed
    ..We report here that the Tre2 (USP6) oncogene is derived from the chimeric fusion of two genes, USP32 (NY-REN-60), and TBC1D3...
  5. Masuda Robens J, Kutney S, Qi H, Chou M. The TRE17 oncogene encodes a component of a novel effector pathway for Rho GTPases Cdc42 and Rac1 and stimulates actin remodeling. Mol Cell Biol. 2003;23:2151-61 pubmed
    ..Here, we demonstrate that the TRE17 oncogene encodes a component of a novel effector pathway for these GTPases...
  6. Jin Y, Lin G, Chen Y, Ge Y, Liang R, Wu J, et al. A fragment activity assay reveals the key residues of TBC1D15 GTPase-activating protein (GAP) in Chiloscyllium plagiosum. BMC Mol Biol. 2019;20:5 pubmed publisher
    ..Collectively, the data support a different mechanism of Shark TBC1D15-GAP in substrate selection, which provides a new idea for the development of Marine drugs. ..
  7. Geiersbach K, Rector L, Sederberg M, Hooker A, Randall R, Schiffman J, et al. Unknown partner for USP6 and unusual SS18 rearrangement detected by fluorescence in situ hybridization in a solid aneurysmal bone cyst. Cancer Genet. 2011;204:195-202 pubmed publisher
    b>USP6 rearrangement is the most common genetic abnormality in primary aneurysmal bone cyst, and SS18 rearrangement has not been previously described in any type of tumor where synovial sarcoma was excluded from the differential diagnosis...
  8. Erickson Johnson M, Chou M, Evers B, Roth C, Seys A, Jin L, et al. Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion. Lab Invest. 2011;91:1427-33 pubmed publisher
    ..Due to its rapid growth and high mitotic activity, NF is often misdiagnosed as a sarcoma. While studying the USP6 biology in aneurysmal bone cyst and other mesenchymal tumors, we identified high expression levels of USP6 mRNA in ..
  9. Pauli C, Fuchs B, Pfirrmann C, Bridge J, Hofer S, Bode B. Response of an aggressive periosteal aneurysmal bone cyst (ABC) of the radius to denosumab therapy. World J Surg Oncol. 2014;12:17 pubmed publisher
    ..ABC), once considered a reactive lesion, has been proven to be a neoplasia characterized by rearrangements of the USP6-gene...
  10. Finelli M, Aprile D, Castroflorio E, Jeans A, Moschetta M, Chessum L, et al. The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons. Hum Mol Genet. 2019;28:584-597 pubmed publisher
    Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (deafness, ..
  11. Gao C, Devarajan K, Zhou Y, Slater C, Daly M, Chen X. Identifying breast cancer risk loci by global differential allele-specific expression (DASE) analysis in mammary epithelial transcriptome. BMC Genomics. 2012;13:570 pubmed publisher
    ..31, P = 0.0018, FDR = 0.040) and USP6 (DASE = 4.80, P = 0.0013, FDR = 0.013), and a breast cancer causative gene, DMBT1 (DASE=2.03, P = 0.0017, FDR = 0...
  12. Carter R, Nickson C, Thompson J, Kacperek A, Hill M, Parsons J. Characterisation of Deubiquitylating Enzymes in the Cellular Response to High-LET Ionizing Radiation and Complex DNA Damage. Int J Radiat Oncol Biol Phys. 2019;: pubmed publisher
    ..Depletion of USP6 decreased cell survival specifically after high-LET α-particles and protons, but not low-LET protons or x-rays...
  13. Castorena C, MacKrell J, Bogan J, Kanzaki M, Cartee G. Clustering of GLUT4, TUG, and RUVBL2 protein levels correlate with myosin heavy chain isoform pattern in skeletal muscles, but AS160 and TBC1D1 levels do not. J Appl Physiol (1985). 2011;111:1106-17 pubmed publisher
    ..Our working hypothesis is that some of the mechanisms that regulate GLUT4 abundance in rat skeletal muscle also influence TUG and RUVBL2 abundance. ..
  14. Miyama A, Kuratsu S, Takenaka S, Yoshimura M, Yoneda G, Yamada Y, et al. Two case reports of intra-articular nodular fasciitis of the knee confirmed by MYH9-USP6 gene fusion expression. J Orthop Sci. 2019;: pubmed publisher
    ..nodular fasciitis (NF) which developed within the knee joint and were associated with the expression of the MYH9-USP6 gene fusion...
  15. Fujimoto T, Sugimoto K, Takahashi T, Yasunobe Y, Xie K, Tanaka M, et al. Overexpression of Interleukin-15 exhibits improved glucose tolerance and promotes GLUT4 translocation via AMP-Activated protein kinase pathway in skeletal muscle. Biochem Biophys Res Commun. 2019;509:994-1000 pubmed publisher
    ..Phosphorylation of AMP-activated protein kinase (AMPK), Akt substrate of 160 kDa (AS160), tre-2/USP6, BUB2, and cdc16 domain family member 1 (TBC1D1), and translocation of Glucose transporter type 4 (GLUT4) were ..
  16. Salib C, Edelman M, Lilly J, Fantasia J, Yancoskie A. USP6 Gene Rearrangement by FISH Analysis in Cranial Fasciitis: A Report of Three Cases. Head Neck Pathol. 2019;: pubmed publisher
    ..Erickson-Johnson et al. identified rearrangements of the ubiquitin-specific protease 6 (USP6) gene in 44 of 48 cases of NF. MYH9 was the fusion partner in 12 of these cases...
  17. Song W, Suurmeijer A, Bollen S, Cleton Jansen A, Bovee J, Kroon H. Soft tissue aneurysmal bone cyst: six new cases with imaging details, molecular pathology, and review of the literature. Skeletal Radiol. 2019;: pubmed publisher
    ..Follow-up was recorded with respect to local recurrence. FISH for USP6 rearrangement and/or anchored multiplex PCR-based targeted NGS using Archer FusionPlex Sarcoma Panel were attempted...
  18. Šekoranja D, Bostjancic E, Salapura V, Mavcic B, Pizem J. Primary aneurysmal bone cyst with a novel SPARC-USP6 translocation identified by next-generation sequencing. Cancer Genet. 2018;228-229:12-16 pubmed publisher
    Aneurysmal bone cyst (ABC) is a benign but locally aggressive, mostly pediatric neoplasm, with characteristic USP6 gene rearrangement that distinguishes it from a secondary ABC and other primary bone tumors...
  19. Jørgensen N, Wojtaszewski J, Kjøbsted R. Serum Is Not Necessary for Prior Pharmacological Activation of AMPK to Increase Insulin Sensitivity of Mouse Skeletal Muscle. Int J Mol Sci. 2018;19: pubmed publisher
    ..These results imply that the presence of a serum factor is not necessary for prior AMPK activation by AICAR to enhance insulin sensitivity of mouse skeletal muscle. ..
  20. Brooks P, Chadwick J, Caminiti M, Dickson B, Leong I. Primary aneurysmal bone cyst of the mandibular condyle with USP6-CDH11 fusion. Pathol Res Pract. 2019;215:607-610 pubmed publisher
    ..aneurysmal bone cyst (ABC) is a cystic bone neoplasm characterized by disease-defining gene fusions involving the USP6/Tre2 gene. The literature describing gnathic ABC is limited...
  21. Jebastin J, Smith S, Perry K, Gupta N, Alanee S, Carskadon S, et al. Pseudosarcomatous myofibroblastic proliferations of the genitourinary tract are genetically different from nodular fasciitis and lack USP6, ROS1 and ETV6 gene rearrangements. Histopathology. 2018;73:321-326 pubmed publisher
    ..As rearrangement of the USP6 gene has been recently recognised as a recurrent alteration in soft tissue nodular fasciitis, and several other ..
  22. Rodríguez Romero J, Franceschetti M, Bueno E, Sesma A. Multilayer regulatory mechanisms control cleavage factor I proteins in filamentous fungi. Nucleic Acids Res. 2015;43:179-95 pubmed publisher
    ..regulatory mechanisms that control two fungal CFI protein classes in Magnaporthe oryzae: Rbp35/CfI25 complex and Hrp1. Using mutational, genetic and biochemical studies we demonstrate that cellular concentration of CFI mRNAs is a ..
  23. Zeng H, Yuan F, Mi Y, Xian G, Qin C, Zhang D. As an independent prognostic factor, USP6 promotes the invasion and metastasis of colon cancer. Biochem Biophys Res Commun. 2018;505:816-822 pubmed publisher
    ..Aberrant expression of ubiquitin-specific protease 6 (USP6) was involved in several diseases including cancer, while its role in the progression of colon cancer was still ..
  24. Yan Q, Lin M, Huang W, Teymournejad O, Johnson J, Hays F, et al. Ehrlichia type IV secretion system effector Etf-2 binds to active RAB5 and delays endosome maturation. Proc Natl Acad Sci U S A. 2018;115:E8977-E8986 pubmed publisher
    ..Etf-2, although lacking a RAB GTPase-activating protein (GAP) Tre2-Bub2-Cdc16 (TBC) domain, contains two conserved TBC domain motifs, namely an Arg finger and a Gln finger, and site-..
  25. Kobayashi Y, Iwata H, Yoshida J, Ogihara J, Kato J, Kasumi T. Metabolic correlation between polyol and energy-storing carbohydrate under osmotic and oxidative stress condition in Moniliella megachiliensis. J Biosci Bioeng. 2015;120:405-10 pubmed publisher
    ..Expression of tre (tre1/tre2) encoding trehalose hydrolase (trehalase) increased with time associated with depletion of trehalose during ..
  26. Li Y, Wang W, Cheng D, Wang T, Lu C, Chen J, et al. A New Member of the TBC1D15 Family from Chiloscyllium plagiosum: Rab GTPase-Activating Protein Based on Rab7 as a Substrate. Mar Drugs. 2015;13:2955-66 pubmed publisher
    ..The current findings pave the way for further functional and clinical studies of these proteins from marine sources. ..
  27. Yamada Y, Kinoshita I, Kohashi K, Yamamoto H, Kuma Y, Ito T, et al. HIF-1?, MDM2, CDK4, and p16 expression in ischemic fasciitis, focusing on its ischemic condition. Virchows Arch. 2017;471:117-122 pubmed publisher
    ..Neither MDM2 gene amplification nor USP6 gene split signal was detected in any case...
  28. Erber R, Agaimy A. Misses and near misses in diagnosing nodular fasciitis and morphologically related reactive myofibroblastic proliferations: experience of a referral center with emphasis on frequency of USP6 gene rearrangements. Virchows Arch. 2018;473:351-360 pubmed publisher
    ..b>USP6 translocation was reported recently as the molecular driver and potential diagnostic marker of NF...
  29. McMullen P, Bridge J, Blair E, Yang C, Collins J, Cipriani N. Aneurysmal Bone Cyst of the Maxillary Sinus with USP6 Rearrangement: Case Report of a Rare Entity and Review of the Literature. Head Neck Pathol. 2018;: pubmed publisher
    ..recent molecular advances have demonstrated that the majority of primary ABCs harbor rearrangements of the USP6 gene, confirming their neoplastic nature...
  30. Whalen C, Tuohy C, Tallo T, Kaufman J, Moore C, Kuehner J. RNA Polymerase II Transcription Attenuation at the Yeast DNA Repair Gene, DEF1, Involves Sen1-Dependent and Polyadenylation Site-Dependent Termination. G3 (Bethesda). 2018;8:2043-2058 pubmed publisher
    ..including a polyadenylation site efficiency element that genetically interacts with its cognate binding-protein Hrp1. Outside of the reporter gene context, a DEF1 attenuator mutant increased mRNA and protein expression, ..
  31. Chen J, Ye X, Li Y, Wei C, Zheng Q, Zhong P, et al. [Chromosomal translocation involving USP6 gene in nodular fasciitis]. Zhonghua Bing Li Xue Za Zhi. 2014;43:533-6 pubmed
    To investigate the frequency of USP6 gene rearrangement in nodular fasciitis (NF) and to evaluate its clinical application...
  32. Mazurier S, Merieau A, Bergeau D, Decoin V, Sperandio D, Crépin A, et al. Type III secretion system and virulence markers highlight similarities and differences between human- and plant-associated pseudomonads related to Pseudomonas fluorescens and P. putida. Appl Environ Microbiol. 2015;81:2579-90 pubmed publisher
    ..The second group encompassed isolates from patients suffering from cystic fibrosis; these isolates belonged to P. fluorescens and harbored T3SS genes belonging to the Hrp1-T3SS family found commonly in plant-associated P. fluorescens.
  33. Shukla E, Thorat L, Nath B, Gaikwad S. Insect trehalase: physiological significance and potential applications. Glycobiology. 2015;25:357-67 pubmed publisher
    ..Due to its crucial role in carbon metabolism in insects, application of inhibitors against trehalose can form a promising area towards formulating strategies for insect pest control. ..
  34. Spang N, Feldmann A, Huesmann H, Bekbulat F, Schmitt V, Hiebel C, et al. RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy. Autophagy. 2014;10:2297-309 pubmed publisher
    ..RABGAPs) are important factors for the coordination of cellular vesicle transport systems, and several TBC (TRE2-BUB2-CDC16) domain-containing RABGAPs are associated with autophagy. Employing C...
  35. Henrich I, Young R, Quick L, Oliveira A, Chou M. USP6 Confers Sensitivity to IFN-Mediated Apoptosis through Modulation of TRAIL Signaling in Ewing Sarcoma. Mol Cancer Res. 2018;16:1834-1843 pubmed publisher
    ..Ubiquitin-specific protease 6 (USP6/TRE17) has been implicated as the key etiologic factor in several benign mesenchymal tumors, including nodular fasciitis ..
  36. Gallo L, Liao Y, Ruiz W, Clayton D, Li M, Liu Y, et al. TBC1D9B functions as a GTPase-activating protein for Rab11a in polarized MDCK cells. Mol Biol Cell. 2014;25:3779-97 pubmed publisher
    ..We observed that in the presence of Mg(2+) (2.5 mM), TBC1D9B interacted via its Tre2-Bub2-Cdc16 (TBC) domain with Rab11a, Rab11b, and Rab4a in a nucleotide-dependent manner...
  37. Zhou Q, Deng C, Li Z, Chen J, Yao K, Huang K, et al. Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines. Cell Death Dis. 2018;9:684 pubmed publisher
    ..most common substitution types in these cell lines, whereas ERCC5, TP53, PTH1, CLTCL1, NOTCH2, MAP2K3, CDK11A/B, USP6, ADCH5, BCLAF1, CDKN2A, FANCD2, HRAS, and NOTCH1 were the most frequently altered genes...
  38. Matcuk G, Chopra S, Menendez L. Solid aneurysmal bone cyst of the humerus mimics metastasis or brown tumor. Clin Imaging. 2018;52:117-122 pubmed publisher
    ..imaging, and histopathological findings and differential diagnosis of solid ABC, and highlight the usefulness of identifying the USP6 gene rearrangement on FISH to distinguish this lesion from other lesions with secondary ABC formation.
  39. Cartee G. Roles of TBC1D1 and TBC1D4 in insulin- and exercise-stimulated glucose transport of skeletal muscle. Diabetologia. 2015;58:19-30 pubmed publisher
    ..In summary, TBC1D1 and TBC1D4 have important, but distinct roles in regulating muscle glucose transport in response to insulin and exercise. ..
  40. Lam S, Cleton Jansen A, Cleven A, Ruano D, van Wezel T, Szuhai K, et al. Molecular Analysis of Gene Fusions in Bone and Soft Tissue Tumors by Anchored Multiplex PCR-Based Targeted Next-Generation Sequencing. J Mol Diagn. 2018;20:653-663 pubmed publisher
    ..Indeed, it revealed COL1A1 and SEC31A as novel fusion partners for USP6 in nodular fasciitis...
  41. Fentz J, Kjøbsted R, Birk J, Jordy A, Jeppesen J, Thorsen K, et al. AMPKα is critical for enhancing skeletal muscle fatty acid utilization during in vivo exercise in mice. FASEB J. 2015;29:1725-38 pubmed publisher
    ..FABPpm (plasma membrane fatty acid binding protein) (by ∼17-40%), together with fully abolished TBC1D1 (tre-2/USP6, BUB2, cdc16 domain family member 1) Ser(237) phosphorylation during contraction/exercise in AMPKα mdKO mice, ..
  42. Bekers E, Eijkelenboom A, Grunberg K, Roverts R, de Rooy J, van der Geest I, et al. Myositis ossificans - Another condition with USP6 rearrangement, providing evidence of a relationship with nodular fasciitis and aneurysmal bone cyst. Ann Diagn Pathol. 2018;34:56-59 pubmed publisher
    ..b>USP6 rearrangements have been identified as a consistent genetic driving event in aneurysmal bone cyst and nodular ..
  43. Flucke U, Shepard S, Bekers E, Tirabosco R, van Diest P, Creytens D, et al. Fibro-osseous pseudotumor of digits - Expanding the spectrum of clonal transient neoplasms harboring USP6 rearrangement. Ann Diagn Pathol. 2018;35:53-55 pubmed publisher
    ..b>USP6 rearrangement is a consistent genetic finding in aneurysmal bone cyst, nodular fasciitis, myositis ossificans and ..
  44. Zeltzer S, Zeltzer C, Igarashi S, Wilson J, Donaldson J, Goodrum F. Virus Control of Trafficking from Sorting Endosomes. MBio. 2018;9: pubmed publisher
    ..Expression of ubiquitin-specific protease 6 (USP6), also known as TRE17, was sufficient to restore ARF6 and some ARF6 cargo trafficking to the cell surface in infected cells...
  45. Warren M, Xu D, Li X. Gene fusions PAFAH1B1-USP6 and RUNX2-USP6 in aneurysmal bone cysts identified by next generation sequencing. Cancer Genet. 2017;212-213:13-18 pubmed publisher
    ..features recurrent chromosomal translocations resulting in gene fusions between ubiquitin specific peptidase 6 (USP6) and multiple partners, including COL1A1, CDH11, TRAP150, ZNF90 and OMD...
  46. Jacquot C, Szymanska J, Nemana L, Steinbach L, Horvai A. Soft-tissue aneurysmal bone cyst with translocation t(17;17)(p13;q21) corresponding to COL1A1 and USP6 loci. Skeletal Radiol. 2015;44:1695-9 pubmed publisher
    ..diagnosis was supported by cytogenetic analysis revealing a t(17;17)(p13;q21) translocation corresponding to the USP6 and COL1A1 loci. Soft-tissue aneurysmal bone cyst is a rare entity, with fewer than 25 reports in the literature...
  47. Romano J, Alkar A, Amstalden M. Onset of luteolytic action of exogenous prostaglandinF-2? during estrous cycle in goats. Theriogenology. 2017;92:45-50 pubmed publisher
    ..64). It was concluded that luteolytic action of PGF-2? begins at day 3 of the estrous cycle by inducing an ovulatory and fertile estrus in goats. ..
  48. Tang B, Yang M, Shen Q, Xu Y, Wang H, Wang S. Suppressing the activity of trehalase with validamycin disrupts the trehalose and chitin biosynthesis pathways in the rice brown planthopper, Nilaparvata lugens. Pestic Biochem Physiol. 2017;137:81-90 pubmed publisher
    ..TRE1 and TRE2 activities and glucose and glycogen contents decreased significantly after the injection of different doses of ..
  49. Oguchi M, Noguchi K, Fukuda M. TBC1D12 is a novel Rab11-binding protein that modulates neurite outgrowth of PC12 cells. PLoS ONE. 2017;12:e0174883 pubmed publisher
    ..These findings indicated that TBC1D12 is a novel Rab11-binding protein that modulates neurite outgrowth of PC12 cells. ..
  50. Jeong S, Oh J, Oh K, Kim I. Differentially expressed miR-3680-5p is associated with parathyroid hormone regulation in peritoneal dialysis patients. PLoS ONE. 2017;12:e0170535 pubmed publisher
    ..05). The predicted target genes of miR-3680-5p were USP6, USP32, USP46, and DLT, which are involved in the ubiquitin proteolysis pathway...
  51. Jeremian R, Chen Y, De Luca V, Vincent J, Kennedy J, Zai C, et al. Investigation of correlations between DNA methylation, suicidal behavior and aging. Bipolar Disord. 2017;19:32-40 pubmed publisher
    ..42×10-7 ) and in intron 3 of TRE2/BUB2/CDC16 domain family member 16 (TBC1D16) (P=6...
  52. Chen X, Poorey K, Carver M, Müller U, Bekiranov S, Auble D, et al. Transcriptomes of six mutants in the Sen1 pathway reveal combinatorial control of transcription termination across the Saccharomyces cerevisiae genome. PLoS Genet. 2017;13:e1006863 pubmed publisher
    ..six different essential proteins that influence Sen1-dependent termination: Sen1, Nrd1, Nab3, Ssu72, Rpb11, and Hrp1. We observe surprisingly diverse effects on transcript abundance for the different proteins that cannot be ..
  53. Dibble C, Cantley L. Regulation of mTORC1 by PI3K signaling. Trends Cell Biol. 2015;25:545-55 pubmed publisher
    ..and spatial regulation of the tuberous sclerosis complex (TSC) complex (TSC complex) [composed of TSC1, TSC2, and Tre2-Bub2-Cdc16-1 domain family member 7 (TBC1D7)] switches on Rheb at the lysosome, where mTORC1 is activated...
  54. Yamamoto M, Urakawa H, Nishida Y, Hirata H. Secondary aneurysmal bone cyst in the distal humerus after resection of intra-articular nodular fasciitis of the elbow. BMC Res Notes. 2015;8:311 pubmed publisher
    ..The findings of this case suggest that these two tumors reside in the same biologic spectrum defined as USP6-induced tumors.
  55. Panagopoulos I, Gorunova L, Viset T, Heim S. Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma. Oncol Rep. 2016;36:2455-2462 pubmed publisher
    ..Our findings indicate that, in spite of the recurrence of AHRR?NCOA2 in angiofibroma of soft tissue, additional genetic events (or fusion genes) might be required for the development of this tumor. ..
  56. Lin Y, Ke C, Wang Y, Chen M, Chen T, Ku W, et al. RAB10 Interacts with the Male Germ Cell-Specific GTPase-Activating Protein during Mammalian Spermiogenesis. Int J Mol Sci. 2017;18: pubmed publisher
    ..MGCRABGAP contains a conserved RABGAP catalytic domain, TBC (Tre2/Bub2/Cdc16). RABGAP family proteins regulate cellular function (e.g...
  57. Tuck A, Tollervey D. A transcriptome-wide atlas of RNP composition reveals diverse classes of mRNAs and lncRNAs. Cell. 2013;154:996-1009 pubmed publisher
    ..The Hrp1 and Nab2 proteins act at this decision point, with dual roles in mRNA cleavage/polyadenylation and lncRNA ..
  58. Kristensen T, Fredholm M, Cirera S. Expression study of GLUT4 translocation-related genes in a porcine pre-diabetic model. Mamm Genome. 2015;26:650-7 pubmed publisher
    ..The expression level of this novel isoform was further verified by qPCR in all tissues, showing the highest expression in the pancreas. ..
  59. Tang B, Wei P, Zhao L, Shi Z, Shen Q, Yang M, et al. Knockdown of five trehalase genes using RNA interference regulates the gene expression of the chitin biosynthesis pathway in Tribolium castaneum. BMC Biotechnol. 2016;16:67 pubmed publisher
    ..These results demonstrate that silencing of any individual trehalase gene, especially Tre1-4 and Tre2 gene can lead to moulting deformities and a high mortality rate through the regulation of gene expression in the ..
  60. Papp G, Mihály D, Sapi Z. Unusual Signal Patterns of Break-apart FISH Probes Used in the Diagnosis of Soft Tissue Sarcomas. Pathol Oncol Res. 2017;23:863-871 pubmed publisher
    ..0%, 2 myoepithelial carcinoma (EWSR1) 50%, 14 dermatofibrosarcoma protuberans (COL1A1) 86% and 6 nodular fasciitis (USP6) 17% atypical break-apart signals were detected...
  61. Levy O, Lavalette S, Hu S, Housset M, Raoul W, Eandi C, et al. APOE Isoforms Control Pathogenic Subretinal Inflammation in Age-Related Macular Degeneration. J Neurosci. 2015;35:13568-76 pubmed publisher
    ..We here show using targeted replacement mice expressing the human APOE isoforms (TRE2, TRE3, and TRE4) that MPs of TRE2 mice express increased levels of APOE, interleukin-6, and CCL2 and develop ..
  62. Chen L, Chen Q, Xie B, Quan C, Sheng Y, Zhu S, et al. Disruption of the AMPK-TBC1D1 nexus increases lipogenic gene expression and causes obesity in mice via promoting IGF1 secretion. Proc Natl Acad Sci U S A. 2016;113:7219-24 pubmed publisher
    Tre-2/USP6, BUB2, cdc16 domain family member 1 (the TBC domain is the GTPase activating protein domain) (TBC1D1) is a Rab GTPase activating protein that is phosphorylated on Ser(231) by the AMP-activated protein kinase (AMPK) in response ..
  63. Paglialunga S, Simnett G, Robson H, Hoang M, Pillai R, Arkell A, et al. The Rab-GTPase activating protein, TBC1D1, is critical for maintaining normal glucose homeostasis and β-cell mass. Appl Physiol Nutr Metab. 2017;42:647-655 pubmed publisher
    Tre-2/USP6, BUB2, cdc16 domain family, member 1 (TBC1D1), a Rab-GTPase activating protein, is a paralogue of AS160, and has been implicated in the canonical insulin-signaling cascade in peripheral tissues...
  64. Lääveri M, Heikinheimo K, Baumhoer D, Slootweg P, Happonen R. Periosteal fasciitis in a 7-year old girl: a diagnostic dilemma. Int J Oral Maxillofac Surg. 2017;46:883-885 pubmed publisher
    ..Fluorescence in situ hybridization analysis revealed a USP6 gene rearrangement and confirmed the diagnosis molecularly...
  65. Sun C, Yang G, Yuan J, Peng X, Zhang C, Zhai X, et al. Mycobacterium tuberculosis hypoxic response protein 1 (Hrp1) augments the pro-inflammatory response and enhances the survival of Mycobacterium smegmatis in murine macrophages. J Med Microbiol. 2017;66:1033-1044 pubmed publisher
    ..M. tuberculosis protein Rv2626c plays a significant role in stimulating macrophages to provoke a pro-inflammatory response and in mycobacterial survival during infection. ..
  66. Finelli M, Sanchez Pulido L, Liu K, Davies K, Oliver P. The Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative Stress. J Biol Chem. 2016;291:2751-63 pubmed publisher
    ..However, the molecular mechanisms involved are unclear. OXR1 contains the Tre2/Bub2/Cdc16 (TBC), lysin motif (LysM), domain catalytic (TLDc) domain, a motif present in a family of proteins ..
  67. Qin J, Wang Z, Hoogeveen Westerveld M, Shen G, Gong W, Nellist M, et al. Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7). J Biol Chem. 2016;291:8591-601 pubmed publisher
    ..Each TBC1D7 molecule interacts simultaneously with two parallel TSC1 helices from two TSC1 molecules, suggesting that TBC1D7 may stabilize the TSC complex by tethering the C-terminal ends of two TSC1 coiled-coils. ..
  68. Chen Q, Xie B, Zhu S, Rong P, Sheng Y, Ducommun S, et al. A Tbc1d1 Ser231Ala-knockin mutation partially impairs AICAR- but not exercise-induced muscle glucose uptake in mice. Diabetologia. 2017;60:336-345 pubmed publisher
    TBC1D1 (tre-2/USP6, BUB2, cdc16 domain family member 1) is a Rab GTPase-activating protein (RabGAP) that has been implicated in regulating GLUT4 trafficking...
  69. Mechtersheimer G, Werner M. [Morphological spectrum of USP6 rearranged lesions]. Pathologe. 2018;39:191-203 pubmed publisher
    USP6, also known as Tre-2 and TRE17, is an ubiquitase-specific proteinase that was identified more than two decades ago as a potential oncogene when it exhibited transforming properties upon overexpression in NIH 3T3 cells...
  70. Bizimungu C, De Neve N, Burny A, Bach S, Bontemps F, Portetelle D, et al. Expression in a RabGAP yeast mutant of two human homologues, one of which is an oncogene. Biochem Biophys Res Commun. 2003;310:498-504 pubmed
    ..particular, Msb3p and Msb4p are similar to the human proteins oncTre210p (the 786-amino-acid product of the human Tre2 oncogene, implicated in Ewing's sarcoma) and RN-tre (a Rab5-GAP controlling endocytosis of the EGFR)...
  71. Agaram N, LeLoarer F, Zhang L, Hwang S, Athanasian E, Hameed M, et al. USP6 gene rearrangements occur preferentially in giant cell reparative granulomas of the hands and feet but not in gnathic location. Hum Pathol. 2014;45:1147-52 pubmed publisher
    ..Identification of USP6 gene rearrangements in primary ABC has made possible investigating potential pathogenetic relationships with other ..
  72. Guo R, Wang X, Chou M, Asmann Y, Wenger D, Al Ibraheemi A, et al. PPP6R3-USP6 amplification: Novel oncogenic mechanism in malignant nodular fasciitis. Genes Chromosomes Cancer. 2016;55:640-9 pubmed publisher
    Nodular fasciitis (NF) is a clonal self-limited neoplastic proliferation characterized by rearrangements of the USP6 locus in most examples. To our knowledge well-documented malignant behavior has never been previously observed in NF...
  73. Madan B, Walker M, Young R, Quick L, Orgel K, Ryan M, et al. USP6 oncogene promotes Wnt signaling by deubiquitylating Frizzleds. Proc Natl Acad Sci U S A. 2016;113:E2945-54 pubmed publisher
    ..In a genome-wide small interfering RNA screen, we identified the deubiquitylase ubiquitin-specific protease 6 (USP6) as a potent activator of Wnt signaling...
  74. Onno M, Nakamura T, Mariage Samson R, Hillova J, Hill M. Human TRE17 oncogene is generated from a family of homologous polymorphic sequences by single-base changes. DNA Cell Biol. 1993;12:107-18 pubmed
    ..Genetic elements of tre originate from chromosomes 5, 18, and 17. The TRE17 oncogene is consistently transcribed in various human cancer cells and proves oncogenic (onc) in expression vector-..
  75. Carter J, Wang X, Dong J, WESTENDORF J, Chou M, Oliveira A. USP6 genetic rearrangements in cellular fibroma of tendon sheath. Mod Pathol. 2016;29:865-9 pubmed publisher
    ..As nodular fasciitis very frequently harbors rearrangement of ubiquitin-specific peptidase 6 (USP6), we hypothesized that cellular fibromas of tendon sheath with nodular fasciitis-like features may also contain ..
  76. Ivanova E, Mau Them F, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, et al. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017;101:428-440 pubmed publisher
    ..TBC1D23 is a member of the Tre2-Bub2-Cdc16 (TBC) domain-containing RAB-specific GTPase-activating proteins (TBC/RABGAPs)...
  77. Loya T, O Rourke T, Reines D. The hnRNP-like Nab3 termination factor can employ heterologous prion-like domains in place of its own essential low complexity domain. PLoS ONE. 2017;12:e0186187 pubmed publisher
    ..Those from the hnRNP-like protein Hrp1, the canonical prion Sup35, or the epsin-related protein Ent2, could rescue viability and enable the new Nab3 ..
  78. Li H, Tai C, Huang H, Jin Y, Chen Y, Yang S. USP6 gene rearrangement differentiates primary paranasal sinus solid aneurysmal bone cyst from other giant cell-rich lesions: report of a rare case. Hum Pathol. 2018;76:117-121 pubmed publisher
    ..Here we report the case of a 24-year-old woman with a paranasal mass diagnosed as USP6-rearranged solid ABC, mimicking giant cell reparative granuloma, giant cell tumor of bone, and brown tumor...
  79. Hoogendijk J, Hensels G, Gabreëls Festen A, Gabreels F, Janssen E, De Jonghe P, et al. De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet. 1992;339:1081-2 pubmed
    ..This finding has important implications for genetic counselling of isolated patients with HMSN I. ..
  80. Rueckert C, Haucke V. The oncogenic TBC domain protein USP6/TRE17 regulates cell migration and cytokinesis. Biol Cell. 2012;104:22-33 pubmed publisher
    ..Here, we identify the oncogenic TBC (Tre-2/Bub2/Cdc16) domain protein USP6 (also termed TRE17) as a regulator of both cell migration and division...
  81. Oliveira A, Chou M. USP6-induced neoplasms: the biologic spectrum of aneurysmal bone cyst and nodular fasciitis. Hum Pathol. 2014;45:1-11 pubmed publisher
    USP6 (also known as TRE17) is a ubiquitin-specific protease that was identified as an oncogene in transfection experiments with Ewing sarcoma DNA 2 decades ago...
  82. Upadhyay P, Gardi N, Desai S, Chandrani P, Joshi A, Dharavath B, et al. Genomic characterization of tobacco/nut chewing HPV-negative early stage tongue tumors identify MMP10 asa candidate to predict metastases. Oral Oncol. 2017;73:56-64 pubmed publisher
    ..mutational signature C:G>A:T transversion in 53% patients that were mutated in TP53, NOTCH1, CDKN2A, HRAS, USP6, PIK3CA, CASP8, FAT1, APC, and JAK1. Similarly, significant gains at genomic locus 11q13...
  83. Chang K, Goytain A, Tucker T, Karsan A, Lee C, Nielsen T, et al. Development and Evaluation of a Pan-Sarcoma Fusion Gene Detection Assay Using the NanoString nCounter Platform. J Mol Diagn. 2018;20:63-77 pubmed publisher
    ..clinical assay, including EWSR1-FLI1, EWSR1-ERG, BCOR-CCNB3, ZC3H7B-BCOR, HEY1-NCOA2, CIC-DUX4, COL1A1-PDGFB, MYH9-USP6, YAP1-TFE3, and IRF2BP2-CDX1 fusions...
  84. Amary M, Ye H, Berisha F, Tirabosco R, Presneau N, Flanagan A. Detection of USP6 gene rearrangement in nodular fasciitis: an important diagnostic tool. Virchows Arch. 2013;463:97-8 pubmed publisher
  85. Quick L, Young R, Henrich I, Wang X, Asmann Y, Oliveira A, et al. Jak1-STAT3 Signals Are Essential Effectors of the USP6/TRE17 Oncogene in Tumorigenesis. Cancer Res. 2016;76:5337-47 pubmed publisher
    ..Here we report a role for the ubiquitin-specific protease 6 (USP6)/TRE17 oncogene, which is overexpressed upon chromosome translocation in various human tumors, including aneurysmal bone ..
  86. Romano Moreno M, Rojas A, Williamson C, Gershlick D, Lucas M, Isupov M, et al. Molecular mechanism for the subversion of the retromer coat by the Legionella effector RidL. Proc Natl Acad Sci U S A. 2017;114:E11151-E11160 pubmed publisher
    ..Our work thus provides structural and mechanistic evidence into how RidL is targeted to endosomal membranes. ..
  87. Onno M, Nakamura T, Hillova J, Hill M. Identification of novel sequences in the repertoire of hypervariable TRE17 genes from immortalized nonmalignant and malignant human keratinocytes. Gene. 1993;131:209-15 pubmed
    The TRE17 oncogene, originally cloned from transfected DNA of Ewing's sarcoma cells, maps to chromosome 17q and is expressed in a wide variety of human cancer cells...
  88. D ANDREA A, Pellman D. Deubiquitinating enzymes: a new class of biological regulators. Crit Rev Biochem Mol Biol. 1998;33:337-52 pubmed
    ..Here we explore the structural and biochemical properties of deubiquitinating enzymes and their emerging roles as cellular switches. ..
  89. Dechamps C, Bach S, Portetelle D, Vandenbol M. The Tre2 oncoprotein, implicated in Ewing's sarcoma, interacts with two components of the cytoskeleton. Biotechnol Lett. 2006;28:223-31 pubmed
    The product of the Tre2 oncogene, structurally related to the Ypt/RabGTPase-activating proteins (Ypt/RabGAP), is involved in various human cancers, including Ewing's sarcoma...
  90. Pringle L, Young R, Quick L, Riquelme D, Oliveira A, May M, et al. Atypical mechanism of NF-κB activation by TRE17/ubiquitin-specific protease 6 (USP6) oncogene and its requirement in tumorigenesis. Oncogene. 2012;31:3525-35 pubmed publisher
    ..We recently identified the TRE17/ubiquitin-specific protease 6 (USP6) oncogene as the first de-ubiquitinating enzyme to activate NF-κB...
  91. Shin C, Low I, Ng D, Oei P, Miles C, Symmans P. USP6 gene rearrangement in nodular fasciitis and histological mimics. Histopathology. 2016;69:784-791 pubmed publisher
    ..Recently, rearrangement of the ubiquitin-specific protease 6 (USP6) gene has been reported as a recurrent and specific finding in nodular fasciitis...