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.[3][6][7]
References
edit- ^ "PPP6R3 – Gene – NCBI".
- ^ "USP6 ubiquitin specific peptidase 6 [Homo sapiens (Human)] - Gene – NCBI".
- ^ a b 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.
- ^ "PPP6R3 – Serine/Threonine-protein phosphatase 6 regulatory subunit 3 – Homo sapiens (Human) – PPP6R3 gene & protein".
- ^ 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.
- ^ a b 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.
- ^ 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
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