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Alveolar soft part sarcoma chromosome region, candidate 1

ASPL
The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011] (from NCBI)
Top mentioned proteins: TFE3, endothelin-1, endothelin receptor, CAN, ACID
Papers on ASPL
Identification of a novel PARP14-TFE3 gene fusion from 10-year-old FFPE tissue by RNA-seq.
New
Zhong et al., Hackensack, United States. In Genes Chromosomes Cancer, Jun 2015
To date, five partner genes have been identified, that is, PRCC in 1q21, PSF in 1q34, ASPL in 17q25, CLTC in 17q23, and NONO in Xq12; and three additional translocations have been reported with no partner gene being defined: t(X;3)(p11;q23), t(X;10)(p11;q23), and t(X;19)(p11;q13).
Newly designed break-apart and ASPL-TFE3 dual-fusion FISH assay are useful in diagnosing Xp11.2 translocation renal cell carcinoma and ASPL-TFE3 renal cell carcinoma: a STARD-compliant article.
New
Guo et al., Nanjing, China. In Medicine (baltimore), May 2015
To improve the accuracy of diagnosis of Xp11.2 tRCC and ASPL-TFE3 renal cell carcinoma (RCC), we investigated newly designed fluorescence in situ hybridization (FISH) probes (diagnostic accuracy study).Based on the genetic characteristics of Xp11.2 tRCC and the ASPL-TFE3 RCC, a new break-apart TFE3 FISH probe and an ASPL-TFE3 dual-fusion FISH probe were designed and applied to 65 patients with RCC who were <45 years old or showed suspicious microscopic features of Xp11.2 tRCC in our hospital.
Distinctive pathways characterize A. actinomycetemcomitans and P. gingivalis.
New
Xue et al., Harbin, China. In Mol Biol Rep, Feb 2015
Network topological features of A. actinomycetemcomitans-related and P. gingivalis-related protein-protein interaction networks, and background network, which included average shortest path length (ASPL), degree, closeness centrality (CC), eccentricity (EC), betweenness centrality (BC) and topological coefficient (TC) were compared using network analysis plugin of Cytoscape, followed by pathway enrichment analysis (p value <0.05) using FISHER hyper-geometric algorithm and calculation of pathway alter scores using LIMMA.
Validation and utilization of a TFE3 break-apart FISH assay for Xp11.2 translocation renal cell carcinoma and alveolar soft part sarcoma.
Parwani et al., Pittsburgh, United States. In Diagn Pathol, 2014
BACKGROUND: Xp11.2 or TFE3 translocation renal cell carcinomas (RCC) and alveolar soft part sarcoma (ASPS) are characterized by chromosome translocations involving the Xp11.2 breakpoint resulting in transcription factor TFE3 gene fusions.
Alveolar soft part sarcoma of lung: report of a unique case with emphasis on diagnostic utility of molecular genetic analysis for TFE3 gene rearrangement and immunohistochemistry for TFE3 antigen expression.
Ru et al., Hangzhou, China. In Diagn Pathol, 2014
Alveolar soft part sarcoma (ASPS) is a rare, malignant mesenchymal tumor of distinctive clinical, morphologic, ultrastructural, and cytogenetical characteristics.
ASPL-TFE3 translocation in vulvovaginal alveolar soft part sarcoma.
Review
Zaatari et al., Cleveland, United States. In Int J Gynecol Pathol, 2014
A reciprocal translocation for ASPL-TFE3 gene fusion, frequently detected in ~90% of cases, combined with TFE3 protein immunoexpression are highly sensitive and specific methods for diagnostic confirmation.
High-resolution array CGH and gene expression profiling of alveolar soft part sarcoma.
Flavin et al., Dublin, Ireland. In Clin Cancer Res, 2014
PURPOSE: Alveolar soft part sarcoma (ASPS) is a soft tissue sarcoma with poor prognosis, and little molecular evidence exists for its origin, initiation, and progression.
Alveolar soft-part sarcoma in the sacrum: a case report and review of the literature.
Review
Sciubba et al., Baltimore, United States. In Skeletal Radiol, 2014
Alveolar soft part sarcoma (ASPS) is a rare disease of the soft tissue.
Human ASPL/TUG interacts with p97 and complements the proteasome mislocalization of a yeast ubx4 mutant, but not the ER-associated degradation defect.
Hartmann-Petersen et al., Copenhagen, Denmark. In Bmc Cell Biol, 2013
BACKGROUND: In mammalian cells, ASPL is involved in insulin-stimulated redistribution of the glucose transporter GLUT4 and assembly of the Golgi apparatus.
Enzymatical and microbial degradation of cyclic dipeptides (diketopiperazines).
Rudat et al., Karlsruhe, Germany. In Amb Express, 2012
Besides confirmation of the reported degradation of cyclo(l-Asp-l-Phe) by Paenibacillus chibensis (DSM 329) and Streptomyces flavovirens (DSM 40062), cleavage of cyclo(l-Asp-l-Asp) by DSM 329 was detected.
Endoproteolytic cleavage of TUG protein regulates GLUT4 glucose transporter translocation.
GeneRIF
Cresswell et al., New Haven, United States. In J Biol Chem, 2012
Data suggest a model whereby insulin stimulates TUG cleavage to liberate GLUT4 storage vesicles from the Golgi matrix, which promotes GLUT4 translocation to the cell surface and enhances glucose uptake.
Technique for differentiating alveolar soft part sarcoma from other tumors in paraffin-embedded tissue: comparison of immunohistochemistry for TFE3 and CD147 and of reverse transcription polymerase chain reaction for ASPSCR1-TFE3 fusion transcript.
GeneRIF
Imamura et al., Tokyo, Japan. In Hum Pathol, 2012
In alveolar soft part sarcomas with unusual locations or histology, we consider that the detection of the ASPSCR1-TFE3 fusion transcript would be the highly effective diagnostic technique.
The ubiquitin regulatory X (UBX) domain-containing protein TUG regulates the p97 ATPase and resides at the endoplasmic reticulum-golgi intermediate compartment.
GeneRIF
Bogan et al., New Haven, United States. In J Biol Chem, 2012
Data support a model in which TUG controls p97 oligomeric status at a particular location in the early secretory pathway and in which this process regulates membrane trafficking in various cell types.
Review of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with focus on pathobiological aspect.
Review
Lee et al., Kōchi, Japan. In Histol Histopathol, 2012
Ultrastructurally, the ASPL-TFE3 RCC variant contains rhomboid crystals in the cytoplasm, similar to that observed in alveolar soft part sarcoma.
Detection of ASPL/TFE3 fusion transcripts and the TFE3 antigen in formalin-fixed, paraffin-embedded tissue in a series of 18 cases of alveolar soft part sarcoma: useful diagnostic tools in cases with unusual histological features.
GeneRIF
Kindblom et al., Birmingham, United Kingdom. In Virchows Arch, 2011
Immuno-detection of TFE3 and RT-PCR-based identification of ASPL/TFE3 fusion transcripts are powerful tools in the diagnosis of alveolar soft part sarcoma.
Xp11 translocation renal cell carcinoma.
Review
Argani et al., Baltimore, United States. In Pathology, 2010
The resulting gene fusions involve the TFE3 transcription factor gene and multiple reported genes, including the same one (ASPL) found in the characteristic gene fusion of alveolar soft part sarcoma.
Xp11.2 translocation renal cell carcinoma.
Review
Parwani et al., Pittsburgh, United States. In Arch Pathol Lab Med, 2010
17q25) and identical resulting ASPL-TFE3 gene fusion as alveolar soft part sarcoma.
Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma.
GeneRIF
Shoemaker et al., Frederick, United States. In J Pediatr Hematol Oncol, 2008
Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma
Translocation carcinomas of the kidney after chemotherapy in childhood.
Impact
Ladanyi et al., Baltimore, United States. In J Clin Oncol, 2006
At the molecular level, three tumors contained the ASPL-TFE3 fusion, two contained Alpha-TFEB, and one contained PRCC-TFE3.
International Union of Pharmacology. XXIX. Update on endothelin receptor nomenclature.
Review
Impact
Davenport, Cambridge, United Kingdom. In Pharmacol Rev, 2002
A selective ET(A) receptor agonist has not been discovered, but highly selective antagonists include peptides (BQ123, cyclo-[D-Asp-L-Pro-D-Val-L-Leu-D-Trp-]; FR139317, N- [(hexahydro-1-azepinyl)carbonyl]L-Leu(1-Me)D-Trp-3 (2-pyridyl)-D-Ala) and the generally more potent nonpeptides, such as PD156707, SB234551, L754142, A127722, and TBC11251.
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