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PPP6R3

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The PPP6R3 gene (also termed C11orf23, PP6R3, SAP190, SAPL, SAPLa, and SAPS3) is located at band 13.2 on the long (or "q") arm of chromosome 11 and is expressed in all tissues tested in humans. It encodes protein phosphatase 6 regulatory subunit 3 (PP6RS3). Also termed serine/threonine-protein phosphatase 6 regulatory subunit 3, PP6RS3 is the function-regulating subunit of protein phosphatase 6 (PPP6C). PPP6C is a component of a signaling pathway that regulates various cell functions including cell division, the repair of damaged DNA, inflammatory responses, messenger mRNA splicing, and the stability of chromosomes.

Two cases of nodular fasciitis have malignant tumors in which the neoplastic cells expressed a PPP6R3 gene merged to the USP6 (i.e. ubiquitin carboxyl-terminal hydrolase 6) gene to form an USP-PPP6R3 fusion gene. In both of these cases, the USP-PPP6R3 fusion genes was considered to contribute to these tumors malignancy.

References

  1. "PPP6R3 – Gene – NCBI".
  2. "USP6 ubiquitin specific peptidase 6 [Homo sapiens (Human)] - Gene – NCBI".
  3. ^ Teramura Y, Yamazaki Y, Tanaka M, Sugiura Y, Takazawa Y, Takeuchi K, Nakayama T, Kaneko T, Musha Y, Funauchi Y, Ae K, Matsumoto S, Nakamura T (December 2019). "Case of mesenchymal tumor with the PPP6R3-USP6 fusion, possible nodular fasciitis with malignant transformation". Pathology International. 69 (12): 706–709. doi:10.1111/pin.12851. PMID 31538390. S2CID 202701385.
  4. "PPP6R3 – Serine/Threonine-protein phosphatase 6 regulatory subunit 3 – Homo sapiens (Human) – PPP6R3 gene & protein".
  5. Kitamura N, Fujiwara N, Hayakawa K, Ohama T, Sato K (July 2021). "Protein phosphatase 6 promotes neurite outgrowth by promoting mTORC2 activity in N2a cells". Journal of Biochemistry. 170 (1): 131–138. doi:10.1093/jb/mvab028. PMID 34314486.
  6. ^ Guo R, Wang X, Chou MM, Asmann Y, Wenger DE, Al-Ibraheemi A, Molavi DW, Aboulafia A, Jin L, Fritchie K, Oliveira JL, Jenkins RB, Westendorf JJ, Dong J, Oliveira AM (August 2016). "PPP6R3-USP6 amplification: Novel oncogenic mechanism in malignant nodular fasciitis". Genes, Chromosomes & Cancer. 55 (8): 640–9. doi:10.1002/gcc.22366. PMID 27113271. S2CID 4378693.
  7. Nakayama S, Nishio J, Aoki M, Koga K, Nabeshima K, Yamamoto T (2021). "Ubiquitin-specific Peptidase 6 (USP6)-associated Fibroblastic/Myofibroblastic Tumors: Evolving Concepts". Cancer Genomics & Proteomics. 18 (2): 93–101. doi:10.21873/cgp.20244. PMC 7943209. PMID 33608306.

External links

PPPR63

GeneCard for PPP6R3


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