ASPSCR1 (Alveolar soft part sarcoma critical region 1)
2001-08-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
17q25.3
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
ASPCR1,ASPL,ASPS,RCC17,TUG,UBXD9,UBXN9
FUSION GENES
DNA/RNA
Description
1872 bp cDNA
Transcription
alternative splicing of 47 bp from exon 2 in the 5 untranslated region
Proteins
Description
476 amino acids; contains an UBX domain, which may be related to the ubiquitylation pathway
Expression
widely expressed in the adult; low expression in fetal tissues
Implicated in
Entity name
Cytogenetics
der(X)t(X;17)(p11;q25) is consistently involved; it implicates: 1- the formation of a hybrid gene at the breakpoint, and also, 2- gain in Xp11-pter sequences, and loss of heterozygocity in 11q25-qter, with possible implications
Hybrid gene
5 ASPSCR1-3 TFE3; the reciprocal 5 TFE3 - 3 ASPSCR1 is most often absent. ASPSCR1 is fused in frame to TFE3 exon 3 or 4
Fusion protein
NH2 term ASPSCR1, fused to the C term of TFE3
Oncogenesis
might combine the effect of a fusion protein to that of gene(s) dosage
Entity name
Disease
a subset of renal cell carcinoma, which presents with a combination of alveolar soft part sarcoma-like features and epithelial features is found to carry this anomaly
Cytogenetics
balanced t(X;17)(p11.2;q25), in contrast with what is found in the alveolar soft part sarcoma (see above)
Hybrid gene
5 ASPSCR1-3 TFE3
Fusion protein
NH2 term ASPSCR1, fused to the C term of TFE3
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11438465 | 2001 | Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents. | Argani P et al |
| 11244503 | 2001 | The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. | Ladanyi M et al |
Other Information
Locus ID:
NCBI: 79058
MIM: 606236
HGNC: 13825
Ensembl: ENSG00000169696
Variants:
dbSNP: 79058
ClinVar: 79058
TCGA: ENSG00000169696
COSMIC: ASPSCR1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37936565 | 2024 | PEComa with ASPSCR1::TFE3 fusion: expanding the molecular genetic spectrum of TFE3-rearranged PEComa with an emphasis on overlap with alveolar soft part sarcoma. | 2 |
| 37936565 | 2024 | PEComa with ASPSCR1::TFE3 fusion: expanding the molecular genetic spectrum of TFE3-rearranged PEComa with an emphasis on overlap with alveolar soft part sarcoma. | 2 |
| 36656859 | 2023 | Structural remodeling of AAA+ ATPase p97 by adaptor protein ASPL facilitates posttranslational methylation by METTL21D. | 6 |
| 37731227 | 2023 | The intracellular helical bundle of human glucose transporter GLUT4 is important for complex formation with ASPL. | 0 |
| 36656859 | 2023 | Structural remodeling of AAA+ ATPase p97 by adaptor protein ASPL facilitates posttranslational methylation by METTL21D. | 6 |
| 37731227 | 2023 | The intracellular helical bundle of human glucose transporter GLUT4 is important for complex formation with ASPL. | 0 |
| 36246906 | 2022 | Ubiquitin-like processing of TUG proteins as a mechanism to regulate glucose uptake and energy metabolism in fat and muscle. | 1 |
| 36246906 | 2022 | Ubiquitin-like processing of TUG proteins as a mechanism to regulate glucose uptake and energy metabolism in fat and muscle. | 1 |
| 34489456 | 2021 | Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma. | 29 |
| 34489456 | 2021 | Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma. | 29 |
| 31648844 | 2019 | Common Mode of Remodeling AAA ATPases p97/CDC48 by Their Disassembling Cofactors ASPL/PUX1. | 8 |
| 31648844 | 2019 | Common Mode of Remodeling AAA ATPases p97/CDC48 by Their Disassembling Cofactors ASPL/PUX1. | 8 |
| 29604926 | 2017 | Xp11 Translocation Renal Cell Carcinoma and the Mesenchymal Counterparts: An Evolving Concept with Novel Insights on Clinicopathologic Features, Prognosis, Treatment, and Classification. | 4 |
| 29604926 | 2017 | Xp11 Translocation Renal Cell Carcinoma and the Mesenchymal Counterparts: An Evolving Concept with Novel Insights on Clinicopathologic Features, Prognosis, Treatment, and Classification. | 4 |
| 27673450 | 2016 | ASPL-TFE3 Oncoprotein Regulates Cell Cycle Progression and Induces Cellular Senescence by Up-Regulating p21. | 13 |
Citation
Jean-Loup Huret
ASPSCR1 (Alveolar soft part sarcoma critical region 1)
Atlas Genet Cytogenet Oncol Haematol. 2001-08-01
Online version: http://atlasgeneticsoncology.org/gene/358/aspscr1-(alveolar-soft-part-sarcoma-critical-region-1)
