ASPSCR1

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Alveolar soft part sarcoma chromosome region, candidate 1
Protein ASPSCR1 PDB 2al3.png
PDB rendering based on 2al3.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ASPSCR1 ; ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9; UBXN9
External IDs OMIM606236 MGI1916188 HomoloGene41550 GeneCards: ASPSCR1 Gene
Orthologs
Species Human Mouse
Entrez 79058 68938
Ensembl ENSG00000169696 ENSMUSG00000025142
UniProt Q9BZE9 Q8VBT9
RefSeq (mRNA) NM_001251888 NM_001164224
RefSeq (protein) NP_001238817 NP_001157696
Location (UCSC) Chr 17:
79.93 – 79.98 Mb
Chr 11:
120.67 – 120.71 Mb
PubMed search [1] [2]

Tether containing UBX domain for GLUT4 is a protein that in humans is encoded by the ASPSCR1 gene.[1][2][3]

This gene is a candidate gene for alveolar soft part sarcoma (ASPS). It has been found that ASPSCR1 can undergo oncogenic rearrangement with transcription factor TFE3 gene, creating an aberrant gene that is a stronger transcriptional activator than TFE3 alone.[4] This fusion oncogene encodes for a chimeric transcription factor, which is responsible for the production of multiple molecules that contribute to ASPS and also to renal cell carcinomas.[5] Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined.[3]

References[edit]

  1. ^ Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Dal Cin P, Bridge J (Mar 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". Oncogene 20 (1): 48–57. doi:10.1038/sj.onc.1204074. PMID 11244503. 
  2. ^ Joyama S, Ueda T, Shimizu K, Kudawara I, Mano M, Funai H, Takemura K, Yoshikawa H (Oct 1999). "Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: A case report and review of the literature". Cancer 86 (7): 1246–50. doi:10.1002/(SICI)1097-0142(19991001)86:7<1246::AID-CNCR20>3.0.CO;2-4. PMID 10506710. 
  3. ^ a b "Entrez Gene: ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1". 
  4. ^ Kobos R, Nagai M, Tsuda M, Merl MY, Saito T, Laé M, Mo Q, Olshen A, Lianoglou S, Leslie C, Ostrovnaya I, Antczak C, Djaballah H, Ladanyi M (Jan 2013). "Combining integrated genomics and functional genomics to dissect the biology of a cancer-associated, aberrant transcription factor, the ASPSCR1-TFE3 fusion oncoprotein". The Journal of Pathology. doi:10.1002/path.4158. 
  5. ^ Lazar AJ, Lahat G, Myers SE, Smith KD, Changye Z, Wei-Lien W, Lopez-Terrada D, Lev D (Dec 2009). "Validation of potential therapeutic targets in alveolar soft part sarcoma: an immunohistochemical study utilizing tissue microarray". Histopathology 55 (6): 750–755. doi:10.1111/j.1365-2559.2009.03436.x. 

Further reading[edit]