7oat

Structural highlights

Disease

ASPC1_HUMAN Translocation renal cell carcinoma;Alveolar soft-tissue sarcoma. A chromosomal aberration involving ASPSCR1 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein.^[1] A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal cell carcinoma. Translocation t(X;17)(p11.2;q25).^[2]

Function

ASPC1_HUMAN Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT.^[3]

References

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. 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. 2001 Jan 4;20(1):48-57. PMID:11244503 doi:http://dx.doi.org/10.1038/sj.onc.1204074
2. ↑ Heimann P, El Housni H, Ogur G, Weterman MA, Petty EM, Vassart G. Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas. Cancer Res. 2001 May 15;61(10):4130-5. PMID:11358836
3. ↑ Cloutier P, Lavallee-Adam M, Faubert D, Blanchette M, Coulombe B. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. PLoS Genet. 2013;9(1):e1003210. doi: 10.1371/journal.pgen.1003210. Epub 2013 Jan , 17. PMID:23349634 doi:http://dx.doi.org/10.1371/journal.pgen.1003210