PPP6R3 explained

The PPP6R3 gene (also termed C11orf23, PP6R3, SAP190, SAPL, SAPLa, and SAPS3[1]) is located at band 13.2 on the long (or "q") arm of chromosome 11 and is expressed in all tissues tested in humans.[2] It encodes protein phosphatase 6 regulatory subunit 3 (PP6RS3).[3] Also termed serine/threonine-protein phosphatase 6 regulatory subunit 3, PP6RS3 is the function-regulating subunit of protein phosphatase 6 (PPP6C).[4] PPP6C is a component of a signaling pathway that regulates various cell functions including cell division, the repair of damaged DNA, inflammatory responses,[5] messenger mRNA splicing, and the stability of chromosomes.[6]

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.[7]

External links

Notes and References

  1. Web site: PPP6R3 – Gene – NCBI.
  2. Web site: 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 . Case of mesenchymal tumor with the PPP6R3-USP6 fusion, possible nodular fasciitis with malignant transformation . Pathology International . 69 . 12 . 706–709 . December 2019 . 31538390 . 10.1111/pin.12851 . 202701385 .
  4. Web site: 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 . Protein phosphatase 6 promotes neurite outgrowth by promoting mTORC2 activity in N2a cells . Journal of Biochemistry . 170. 1. 131–138. July 2021 . 34314486 . 10.1093/jb/mvab028 .
  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 . PPP6R3-USP6 amplification: Novel oncogenic mechanism in malignant nodular fasciitis . Genes, Chromosomes & Cancer . 55 . 8 . 640–9 . August 2016 . 27113271 . 10.1002/gcc.22366 . 4378693 .
  7. Nakayama S, Nishio J, Aoki M, Koga K, Nabeshima K, Yamamoto T . Ubiquitin-specific Peptidase 6 (USP6)-associated Fibroblastic/Myofibroblastic Tumors: Evolving Concepts . Cancer Genomics & Proteomics . 18 . 2 . 93–101 . 2021 . 33608306 . 7943209 . 10.21873/cgp.20244 .

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