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Aspscr1. 3 ASPSCR1 TEXT A number sign (#) is used with this entry because some cases of alveolar soft part sarcoma have been found to be caused by fusion of the ASPSCR1 () and TF () genes Description Alveolar soft part sarcoma is an unusual tumor with highly characteristic histopathology and ultrastructure.  AntiASPSCR1 Antibody (A0516) TUG (ASPSCR1) Human Recombinant Protein (PROTQ9BZE9) AntiCD34 (Cterm) Rabbit Monoclonal Antibody, Clone#RM300 (M0052) View all ASPSCR1 products Compatible Secondaries For Host Mouse ECL Detection Kit, Including HRPConjugated Goat AntiMouse IgG Antibody (EK1001). 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 download.

Synonyms for ASPSCR1 in Free Thesaurus Antonyms for ASPSCR1 54 synonyms for tug pull, drag, pluck, jerk, yank, wrench, lug, drag, pull, haul, tow, lug, heave, draw. Other 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. Aspscr1 ID ZDBGENE Name ASPSCR1 tether for SLC2, UBX domain containing Symbol aspscr1 Nomenclature History Previous Names zgc;.

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 muscle. ASPSCR1_ENST TF fusions in cancer Overview, tissues and references Inferred breakpoints and mutation frequency for breakpoints of ASPSCR1_ENST and TF. ASPSCR1 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).

AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by coalignment and clustering of all publicly available mRNAs and ESTs on the genome sequence Our goals are to offer a reliable uptodate resource on the genes, their functions, alternative variants, expression, regulation and interactions, in the hope to stimulate further validating. ASPSCR1_ENST, ASPSCR1_ENST, ASPSCR1_ENST Sequences You can see various sequences for this gene cDNA (ENST) Protein (ASPSCR1) Transcript and protein aligned (ENSTASPSCR1) Gene fusions ASPSCR1 is involved in 1 fusion, with the following gene.  An ASPSCR1–TF fusion protein due to an unbalanced translocation der(17) t(X;17) has been associated with alveolar softpart sarcoma (ASPS), which resulted in unregulated transcription of TF and TFregulated genes and a truncated allele of ASPSCR1 with loss of function Future studies of the role of ASPSCR1 in HCC are warranted.

 Plasmid construction Nterminal FLAGtagged ASPSCR1TF was introduced into both the pMYsIRESGFP and pMYsIRESLuc vectors The fulllength ASPSCR1TF was cloned from a human ASPS case Artificial chimeric ASPSCR1 fusions between ASPSCR1 and TFEB, TFEC, or MITF were also generated by twostep PCR using primers encompassing both ASPSCR1 and. ASPSCR1 (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 Translocation of GLUT4 to the plasma membrane and Vesiclemediated transportAn important paralog of this gene is UBXN6. ASPSCR1 is altered in 011% of all cancers with alveolar soft part sarcoma, translocationassociated renal cell carcinoma, high grade ovarian serous adenocarcinoma, endometrial endometrioid adenocarcinoma, and unknown having the greatest prevalence of alterations.

ASPSCR1 Gene Uniprot Function 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 Mitotic Index 0029 Interphase Cluster #176 (15 genes) Mitotic. It sequesters GLUT4containing vesicles in the cytoplasm in absence of insulin.  ASPSCR1 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).

 Our objective was to identify the direct targets of ASPSCR1TF and how these targets confer resistance to doxorubicin The human cell lines ASPS1 and FUUR1, as well as mouse tumors driven by expression of ASPSCR1TF were subjected to nuclear fractionation and chromatin immunoprecipitation using antibodies against ASPSCR1 and RNAPol2. ASPSCR1 A gene on chromosome 17q253 that encodes a ubiquitous tethering protein highly expressed in the testes, heart, skeletal muscle and pancreas;. Also known as ASPL, UBXD9, TUG, UBXN9, ASPS;.

ASPSCR1 (Alveolar soft part sarcoma critical region 1), Authors JeanLoup Huret Published in Atlas Genet Cytogenet Oncol Haematol. 31 ASPSCR1 Silencer Select Predesigned, Validated, and Custom siRNA in Standard, HPLC, and Invivo Ready Purities. Synonyms AntiAlveolar soft part sarcoma chromosomal region candidate gene 1 protein,AntiAlveolar soft part sarcoma locus,AntiUBX domaincontaining protein 9,AntiTether containing UBX domain for GLUT4,AntiRenal.

 Alveolar soft part sarcoma (ASPS) is a rare malignancy that, since its initial description, remains a neoplasm of uncertain histogenesis The diseasedefining molecular event characterizing the diagnosis of ASPS is the ASPSCR1TF fusion gene Following identification of an index case of ASPS with.  Aspscr1 2 Annotation score Annotation score1 out of 5 The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome This score cannot be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein. View mouse Aspscr1 Chr with phenotypes, sequences, polymorphisms, proteins, references, function, expression.

AntiASPSCR1 antibody produced in rabbit Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution;. ASPSCR1 ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9 alveolar soft part sarcoma chromosome region, candidate 1 GO Process (1) GO Function (1) GO Component (3) Gene Ontology Biological Process membrane organization.  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, a.

Full name ASPSCR1 tether for SLC2, UBX domain containing;. Creative diagnostics provides ASPSCR1 antibodies and elisa kits for science research use, feel free to contact us. Showing 25 of 1,916 Results for ASPSCR1 Search Time 0 ms Showing 25 50 100 0 500 See All of 1,916 Results for ASPSCR1 Search Time 0 ms Export.

ASPSCR1 tether for SLC2, UBX domain containing (HGNC Symbol) Chromosome 17 Cytoband q253 Chromosome location (bp) Number of transcripts i 9 Protein evidence Evidence at protein level Protein class i Cancer.  We first confirmed that ASPSCR1–TF has a predominantly nuclear localization and functions as a stronger transactivator than native TF Genomewide location analysis performed on the FUUR1 cell line, which expresses endogenous ASPSCR1–TF, identified 2193 genes bound by ASPSCR1–TF.  ASPL is a cofactor of the hexameric ATPase complex, known as p97 The central area in ASPL, containing both a SHP box and a UBX domain, is required for binding to the p97 Ndomain Results support a gainoffunction role for ASPSCR1TF contributing to proliferation and survival of cancer cells Promotes methylation of VCP by METTL21D.

Functional 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 datasets. NCG70 hd Network of Cancer Genes & Healthy Drivers Help;.  The ASPSCR1TF and ASPSCR1TFEB but not ASPSCR1TFEC and ASPSCR1MITF induced sarcoma The results suggest the presence of TF/TFEBspecific cofactors and mechanisms for tumorigenesis In order to identify such novel cofactors and functional motifs, human ASPS cellnuclear extract was incubated with TF or MITF proteins and TF or MITF.

In 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 ASPS. 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 muscle. ASPSCR1 (Alveolar soft part sarcoma critical region 1) alveolar soft part sarcoma chromosome region, candidate 1 Starts at and ends at bp from pter ( according to GRCh38/hg38Dec_13) Mapping ASPSCR1png alternative splicing of 47 bp from exon 2 in the 5' untranslated region 476 amino acids;.

Search ASPSCR1 The Human Protein Atlas 2 GENES FOUNDi The search result lists the genes found by the search function The show/hide columns function can be used to customize the columns in the search result list To refine the search results with specific criterias, use the "Fields" For more information and examples see the Search help. Please fill in the form below to provide us with confidential feedback If you are asking a question or reporting an issue, please first read our FAQIf you are reporting a suggestion or issue here, please be as specific as possible, state all relevant facts, include all links, etc, in a way that we can easily find or reproduce the data. AntiASPSCR1 AntiASPSCR1 Antibody alveolar soft part sarcoma chromosome region, candidate 1 References (1) Recommended Applications Product Description Polyclonal Antibody against Human ASPSCR1 Alternative Gene Names ASPL, ASPS, UBXD9, UBXN9 Open Datasheet Price $ Product Number HPA.

Sequence variants and/or copy number variants (deletions/duplications) within the ASPSCR1 gene will be detected with >99% sensitivity Variants classified as unknown significance (VUS), likely pathogenic, or pathogenic will be reported Benign and li.

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