ASPSCR1

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ASPSCR1
Protein ASPSCR1 PDB 2al3.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ASPSCR1, ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9, alveolar soft part sarcoma chromosome region, candidate 1, UBX domain containing tether for SLC2A4
External IDs MGI: 1916188 HomoloGene: 41550 GeneCards: ASPSCR1
Gene location (Human)
Chromosome 17 (human)
Chr. Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for ASPSCR1
Genomic location for ASPSCR1
Band 17q25.3 Start 81,976,807 bp[1]
End 82,017,406 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001251888
NM_024083
NM_001330528

NM_001164224
NM_026877
NM_198223

RefSeq (protein)

NP_001238817
NP_001317457
NP_076988

NP_001157696
NP_081153
NP_937866

Location (UCSC) Chr 17: 81.98 – 82.02 Mb Chr 17: 120.67 – 120.71 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Tether containing UBX domain for GLUT4 (TUG) is a protein that in humans is encoded by the ASPSCR1 gene.[5][6][7]

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.[8] 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.[9] Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169696 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025142 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ a b "Entrez Gene: ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1". 
  8. ^ 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. 
  9. ^ 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. 

External links[edit]

Further reading[edit]