ASPSCR1 (Alveolar soft part sarcoma critical region 1)

2001-08-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
17q25.3
IMAGE
Atlas 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
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

Bibliography

Pubmed IDLast YearTitleAuthors
114384652001Primary 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
112445032001The 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

Gene IDTranscript IDUniprot
ENSG00000169696ENST00000306729Q9BZE9
ENSG00000169696ENST00000306739Q9BZE9
ENSG00000169696ENST00000344865C9JAL9
ENSG00000169696ENST00000579684J3KRG1
ENSG00000169696ENST00000580534Q9BZE9
ENSG00000169696ENST00000581484J3QL04
ENSG00000169696ENST00000581647J3QRW3
ENSG00000169696ENST00000582355J3KRY8
ENSG00000169696ENST00000583503J3QR50
ENSG00000169696ENST00000583744J3KRF7
ENSG00000169696ENST00000584454J3QR12

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Translocation of GLUT4 to the plasma membraneREACTOMER-HSA-1445148

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
233496342013A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity.71
204160772010Identification of type 2 diabetes-associated combination of SNPs using support vector machine.26
254539022014Modeling alveolar soft part sarcomagenesis in the mouse: a role for lactate in the tumor microenvironment.22
222077552012The ubiquitin regulatory X (UBX) domain-containing protein TUG regulates the p97 ATPase and resides at the endoplasmic reticulum-golgi intermediate compartment.18
232887012013Combining integrated genomics and functional genomics to dissect the biology of a cancer-associated, aberrant transcription factor, the ASPSCR1-TFE3 fusion oncoprotein.15
212795212011Detection 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.12
265169442015Alveolar Soft Part Sarcoma.9
218354262012Technique 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.6
181761802008Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma.5
276734502016ASPL-TFE3 Oncoprotein Regulates Cell Cycle Progression and Induces Cellular Senescence by Up-Regulating p21.5

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