ASPSCR1

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

ASPSCR1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesASPSCR1, ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9, alveolar soft part sarcoma chromosome region, candidate 1, UBX domain containing tether for SLC2A4, ASPSCR1 tether for SLC2A4, UBX domain containing
External IDsOMIM: 606236 MGI: 1916188 HomoloGene: 41550 GeneCards: ASPSCR1
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q25.3Start81,976,807 bp[1]
End82,017,406 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

79058

68938

Ensembl

ENSG00000169696

ENSMUSG00000025142

UniProt

Q9BZE9

Q8VBT9

RefSeq (mRNA)

NM_001251888
NM_024083
NM_001330528

NM_001164224
NM_026877
NM_198223
NM_001363055
NM_001363056

RefSeq (protein)

NP_001238817
NP_001317457
NP_076988

NP_001157696
NP_081153
NP_937866
NP_001349984
NP_001349985

Location (UCSC)Chr 17: 81.98 – 82.02 MbChr 11: 120.67 – 120.71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. GRCh38: Ensembl release 89: ENSG00000169696 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025142 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. "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. 229 (5): 743–754. doi:10.1002/path.4158. PMC 4083568. PMID 23288701.
  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. PMID 20002771.

Further reading


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