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
ASPSCR1
LOCATION
17q25.3
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
79058
ALIAS
ASPCR1,ASPL,ASPS,RCC17,TUG,UBXD9,UBXN9
FUSION GENES
Show Gene Fusions

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
Alveolar soft part sarcoma with ASPSCR1 - TFE3 fusion
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
primary renal ASPSCR1-TFE3 tumour
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 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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379365652024PEComa with ASPSCR1::TFE3 fusion: expanding the molecular genetic spectrum of TFE3-rearranged PEComa with an emphasis on overlap with alveolar soft part sarcoma.2
379365652024PEComa with ASPSCR1::TFE3 fusion: expanding the molecular genetic spectrum of TFE3-rearranged PEComa with an emphasis on overlap with alveolar soft part sarcoma.2
366568592023Structural remodeling of AAA+ ATPase p97 by adaptor protein ASPL facilitates posttranslational methylation by METTL21D.6
377312272023The intracellular helical bundle of human glucose transporter GLUT4 is important for complex formation with ASPL.0
366568592023Structural remodeling of AAA+ ATPase p97 by adaptor protein ASPL facilitates posttranslational methylation by METTL21D.6
377312272023The intracellular helical bundle of human glucose transporter GLUT4 is important for complex formation with ASPL.0
362469062022Ubiquitin-like processing of TUG proteins as a mechanism to regulate glucose uptake and energy metabolism in fat and muscle.1
362469062022Ubiquitin-like processing of TUG proteins as a mechanism to regulate glucose uptake and energy metabolism in fat and muscle.1
344894562021Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.29
344894562021Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.29
316488442019Common Mode of Remodeling AAA ATPases p97/CDC48 by Their Disassembling Cofactors ASPL/PUX1.8
316488442019Common Mode of Remodeling AAA ATPases p97/CDC48 by Their Disassembling Cofactors ASPL/PUX1.8
296049262017Xp11 Translocation Renal Cell Carcinoma and the Mesenchymal Counterparts: An Evolving Concept with Novel Insights on Clinicopathologic Features, Prognosis, Treatment, and Classification.4
296049262017Xp11 Translocation Renal Cell Carcinoma and the Mesenchymal Counterparts: An Evolving Concept with Novel Insights on Clinicopathologic Features, Prognosis, Treatment, and Classification.4
276734502016ASPL-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