Aspscr1 gene 243393-Aspscr1 gene

ASPSCR1 tether for SLC2, UBX domain containing Aliases TUG, ASPL, ASPS, RCC17, UBXD9, UBXN9, ASPCR1 Location 17q253 Summary 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 muscleASPSCR1 expression was also found in all cancer cell lines tested Independently, Heimann et al (01) identified the ASPSCR1 gene, which they called RCC17, partnered with TF in two 5yearold Belgian girls of African origin in whom papillary renal cell carcinomas () carried the translocation t(X;17)(p112;q25)By conditionally expressing in mice the fusion gene ASPSCR1TF from human alveolar soft part sarcoma (ASPS), we generated a model that recapitulates the human tumor histologically and by expression profile, enabling study of the conditions supportive of tumor development Mouse tumors demonstrated angiogenic gene expression in the frank absence of hypoxia and were

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Aspscr1 gene

Aspscr1 gene-Symbol Description Category GIFtS GC id Score;Type protein_coding_gene Location Chr 11 Mapping Details/Browsers Description Human ortholog(s) of this gene implicated in alveolar soft part sarcoma

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The gene view histogram is a graphical view of mutations across ASPSCR1 These mutations are displayed at the amino acid level across the full length of the gene by default Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the leftTaxonomy i Protein names i Submitted name Tethercontaining UBX domain for GLUT4 Imported Aspscr1 Tug 550 Annotation score F6S7C9 F6S7C9_MOUSEAlveolar soft part sarcoma is characterized by a der(17)(X;17)(p112;q25) translocation resulting in an ASPSCR1TF gene fusion, the distinctive epithelioid hemangioendothelioma subset harbors a t(X;11)(p112;q13) translocation resulting in a YAP1TF gene

Gene fusions were detected in 905% (57/63) cases, of which 947% (54/57) cases showed relatively more common gene fusions, including SFPQTF (n = 15), ASPSCR1TF (n = 13), NONOTF (n = 8View mouse Aspscr1 Chr with phenotypes, sequences, polymorphisms, proteins, references, function, expressionAlveolar soft part sarcoma (ASPS) is a rare malignancy that, since its initial description, remains a neoplasm of uncertain histogenesis The disease‐defining molecular event characterizing the diagnosis of ASPS is the ASPSCR1‐TF fusion gene Following identification of an index case of ASPS with a novel TF fusion partner, we performed a retrospective review to

Description Homo sapiens ASPSCR1 tether for SLC2, UBX domain containing (ASPSCR1), transcript variant 2, mRNA (from RefSeq NM_) RefSeq Summary (NM_) 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 muscleHUMAN PROTEIN ATLAS SUMMARYi General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project Proteini Full gene name according to HGNC ASPSCR1, UBX domain containing tether for SLC2 Gene nameiOther interactions of ASPSCR1 The der (17)t (X;17) (p11;q25) of human alveolar soft part sarcoma fuses the TF transcription factor gene to ASPL, a novel gene at 17q25 8 The status of the TP53 alleles was followed at different stages by fluorescence in situ hybridization (FISH) and allelespecific PCR ( ASPCR) on total DNA, as well as flow

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Genetic Diversity In Alveolar Soft Part Sarcoma A Subset Contain Variant Fusion Genes Highlighting Broader Molecular Kinship With Other Mit Family Tumors Dickson Genes Chromosomes And Cancer Wiley Online Library

A conditional expression in mice of the fusion gene ASPSCR1TF from human alveolar soft part sarcoma (ASPS) generated a model that recapitulates the human tumor histologically and by expression profile ASPL is a cofactor of31 ASPSCR1 Silencer Select Predesigned, Validated, and Custom siRNA in Standard, HPLC, and Invivo Ready PuritiesGene Fusions Fusion Partners Original Annotation ASPSCR1TF 31 ASPSCR1TF ASPSCR1TF alveolar soft part sarcoma Pubmed 17 ASPSCR1TF ASPSCR1TF Adenocarcinoma, Alveolar soft part sarcoma, renal cell carcinoma

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OncoKB is a precision oncology knowledge base developed at Memorial Sloan Kettering Cancer Center that contains biological and clinical information about genomic alterations in cancerGene Aspscr1 Organism Mus musculus (Mouse) Status UnreviewedAnnotation score Experimental evidence at protein level i Names &Alveolar soft part sarcoma with ASPSCR1 TF fusion Cytogenetics der (X)t (X;17) (p11;q25) is consistently involved;

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Molecular Cytogenetic Analysis For Tfe3 Rearrangement In Xp11 2 Renal Cell Carcinoma And Alveolar Soft Part Sarcoma Validation And Clinical Experience With 75 Cases Modern Pathology

Tethering protein that sequesters GLUT4containing vesicles in the cytoplasm in the absence of insulin Modulates the amount of GLUT4 that is available at the cell surface (By similarity) Enhances VCP methylation catalyzed by VCPKMT The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4) This protein is a tether, which sequestersAspscr1 Q9BZE9 Transcriptional coactivator stimulating NR5A1 andliganddependent NR1H3/LXRA and PPARG transcriptional activitiesEnhances the DNAbinding activity of ATF1, ATF2, CREB1 and NR5A1Regulates nitric oxid synthase activity probably by sequesteringcalmodulin in the cytoplasmXp11 translocation renal cell carcinomas harbor chromosome translocations involving the Xp11 breakpoint, resulting in gene fusions involving the TF gene The most common subtypes are the ASPSCR1

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Phenotype data for mouse gene Aspscr1 Discover Aspscr1's significant phenotypes, expression, images, histopathology and more Data for gene Aspscr1 is all freely available for downloadIt implicates 1 the formation of a hybrid gene at the breakpoint, and also, 2 gain in Xp11pter sequences, and loss of heterozygocity in 11q25qter, with possible implications Hybrid/Mutated GeneThe ASPSCR1 fusion gene–expressing ex vivo model defines tumorigenic activity of the Cterminal domains in TFE/MITF family proteins TF belongs to the TFE/MITF transcription protein family, which has been found to be involved in human cancer and within which the DNA binding bHLH leucine zipper motif is well conserved

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Context PubMed ASPSCR1 Title/Abstract AND TF Title/Abstract AND fusion Title/Abstract Functional or gene categories assigned by FusionGDB annotation Oncogene involved fusion gene, inframe and retained their domain * DoF score (Degree of Frequency) = # partners X # break points X # cancer typesThe TF fusion partners in the latter three neoplasms have been fairly consistent;Differential expression of cathepsin K in neoplasms harboring TF gene fusions Modern Pathology, 11 Diego Segala Stefano Gobbo 9 More Download PDF Download Full PDF Package This paper A short summary of this paper 36 Full PDFs related to this paper

Molecular Landscape In Alveolar Soft Part Sarcoma Implications For Molecular Targeted Therapy Sciencedirect

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The mission of the Public Health Genomics is to integrate advances in human genetics into public health research, policy, and programsGene names and symbols associated with ASPSCR1 ASPSCR1, UBX domain containing tether for SLC2 (ASPSCR1) antibody alveolar soft part sarcoma chromosome region, candidate 1 S homeolog (aspscr1S) antibodyAspscr1 Gene Name alveolar soft part sarcoma chromosome region, candidate 1 (human) Gene Aliases K01Rik, ASPC, ASPCR1, ASPL, ASPS, RCC17, TUG Chromosome Location Chr11 on Build GRCm38 UniGene ID Mm2940 Species Mouse Species Specific ID (Flybase ID)

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Combining Integrated Genomics And Functional Genomics To Dissect The Biology Of A Cancer Associated Aberrant Transcription Factor The Aspscr1 Tfe3 Fusion Oncoprotein Kobos 13 The Journal Of Pathology Wiley Online Library

Up to12%cash backAlveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma characterized by an alveolar or organoid arrangement of polygonal tumour cells separated by fibrovascular septa A specific fusion gene ASPS critical region 1 (ASPSCR1)—TF was detected in ASPS Despite being a slowgrowing tumour without pain and dysfunction, ASPS isIn addition to wildtype TF, ASPSCR1TF fusion transcripts (three type 1 and two type 2 transcripts) were detected in all cases Conclusions Molecular confirmation of ASPSCR1TF gene fusion is applicable to routinely processed archival and diagnostic tumour samples and aids in the differential diagnosis of ASPSASPSCR1 (ASPSCR1 Tether For SLC2, UBX Domain Containing) is a Protein Coding gene Diseases associated with ASPSCR1 include Alveolar Soft Part Sarcoma and Renal Cell Carcinoma, Xp11AssociatedAmong its related pathways are Vesiclemediated transport and Translocation of GLUT4 to the plasma membraneAn important paralog of this gene is UBXN6

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Translocation t (X;17) (p11;q25) with TF forms a ASPSCR1TF fusion protein 1 Publication Manual assertion based on experiment in i Ref1 The der (17)t (X;17) (p11;q25) of human alveolar soft part sarcoma fuses the TF transcription factor gene to ASPL, aOncogenic rearrangements of the TF transcription factor gene are found in two distinct human cancers These include ASPSCR1–TF in all cases of alveolar soft part sarcoma (ASPS) and ASPSCR1–TF, PRCCTF, SFPQTF and others in a subset of paediatric and adult RCCs Here we examined the functional properties of the ASPSCR1–TFThis results in a fusion of the transcription factor (TF) gene located at Xp11 with the ASPS chromosome region, candidate 1 gene at 17q25 (ASPSCR1, or ASPL), creating the ASPSCR1TF translocation , ASPSCR1TF is the driving oncogenic

Molecular Cytogenetic Analysis For Tfe3 Rearrangement In Xp11 2 Renal Cell Carcinoma And Alveolar Soft Part Sarcoma Validation And Clinical Experience With 75 Cases Modern Pathology

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Different gene fusions were identified in 5 neoplasms One case had a FUSCREM gene fusion 6, 9, two cases had SS18 SSX gene fusions characterizing SS, and another two cases had TFASPSCR1 gene fusions characterizing ASPS (for details, see Table 1) Comparison of referral opinion/diagnosis and final diagnosisFunctional Associations ASPSCR1 has 4,6 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 77 datasetsDetection of the ASPSCR1TF fusion transcript and TF Immunohistochemistry The molecular signature of ASPS is a specific der(17)t(X;17)(p112;q25), which results in the fusion of either exon 6 (type 1) or exon 5 (type 2) of the TF transcription factor gene (Xp11) with ASPSCR1 (17q25), usually in a nonbalanced manner although reciprocal translocations have

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Heimann et al (01) identified the ASPSCR1 gene, which they called RCC17, partnered with TF in two 5yearold Belgian girls of African origin in whom papillary renal cell carcinomas carried the translocation t(X;17)(p112;q25)1 ASPSCR1 ASPSCR1 Tether For SLC2, UBX Domain Containing Protein Coding 41 GC17P 47 2 TF Transcription Factor Binding To IGHM Enhancer 3The ASPSCR1TF gene fusion is the same gene fusion found in alveolar soft part sarcoma (ASPS), a rare pediatric neoplasm of uncertain histogenesis However, the translocation in Xp11 translocation RCC is balanced, which may contribute to the differences seen at the clinical and histopathologic levels between Xp11 translocation RCC and ASPS

Combining Integrated Genomics And Functional Genomics To Dissect The Biology Of A Cancer Associated Aberrant Transcription Factor The Aspscr1 Tfe3 Fusion Oncoprotein Abstract Europe Pmc

Figure 1 Alveolar Soft Part Sarcomas Molecular Pathogenesis And Implications For Novel Targeted Therapies

Translocation t(X;17)(p11;q25) of this gene with transcription factor TF gene results in a ASPSCR1TF fusion protein in alveolar soft part sarcoma and in renal cell carcinomas Multiple alternatively spliced transcript variants have been found Chemical Modification DNA/RNA Length 80 nt Affinity (Kd) 1nM~1μM Binding Conditions/BufferOncogenic rearrangements of the TF transcription factor gene are found in two distinct human cancers These include ASPSCR1TF in all cases of alveolar soft part sarcoma (ASPS) and ASPSCR1TF, PRCCTF, SFPQTF and others in a subset of paediatric and adult RCCs Here we examined the functiGENERAL INFORMATIONi General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project Gene namei Official gene symbol, which is typically a short form of the gene name, according to HGNC ASPSCR1

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ZDBGENE Name ASPSCR1 tether for SLC2, UBX domain containing Symbol aspscr1 Nomenclature History Previous Names zgc;ASPSCR1 Name ASPSCR1 tether for SLC2, UBX domain containing Synonyms NCBI Gene IDs Homo sapiens 638 Mus musculus Gallus gallusDisease ASPSCR1/TF renal cell carcinomas harbor the same gene fusion as alveolar soft part sarcoma, but belong to the family of Xp11 translocation RCC Xp11 translocation renal cell carcinoma (RCCs) harbor gene fusions involving TF transcription factor The The t (6;11) RCCs harbor a specific MALAT1 (Alpha) TFEB gene fusion

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The exact same chromosomal changes are found in a rare form of kidney cancer, ASPSCR1TF translocation renal cell carcinoma in which the chromosomal translocation is "balanced" as opposed to the "unbalanced" translocation seen in ASPS This is a cancer of an entirely different nature Researchers are unsure why the ASPSCR1TF gene fusion causes ASPS in some people and aASPSCR1 (arrow) was detected using the purified antibody ASPSCR1 Antibody flow cytometry of HeLa cells (right histogram) compared to a negative control cell (left histogram) FITCconjugated goatantirabbit secondary antibodies were used for the analysisASPSCR1 gene product ASPL, ASPS, TUG, UBXD9, UBXN9 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

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