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== Disease == | == Disease == | ||
| - | + | [https://www.uniprot.org/uniprot/ASPC1_HUMAN 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.<ref>PMID:11244503</ref> A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal cell carcinoma. Translocation t(X;17)(p11.2;q25).<ref>PMID:11358836</ref> | |
== Function == | == Function == | ||
| - | + | [https://www.uniprot.org/uniprot/ASPC1_HUMAN 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.<ref>PMID:23349634</ref> | |
== References == | == References == | ||
<references/> | <references/> | ||
Revision as of 10:33, 15 February 2023
Structural basis for targeted p97 remodelling by ASPL as prerequisite for p97 trimethylation by METTL21D
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