Biology:PPP6R3
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
- ↑ "PPP6R3 – Gene – NCBI". https://www.ncbi.nlm.nih.gov/gene/?term=PPP6R3.
- ↑ "USP6 ubiquitin specific peptidase 6 [Homo sapiens (Human)] - Gene – NCBI". https://www.ncbi.nlm.nih.gov/gene/9098.
- ↑ 3.0 3.1 "Case of mesenchymal tumor with the PPP6R3-USP6 fusion, possible nodular fasciitis with malignant transformation". Pathology International 69 (12): 706–709. December 2019. doi:10.1111/pin.12851. PMID 31538390.
- ↑ "PPP6R3 – Serine/Threonine-protein phosphatase 6 regulatory subunit 3 – Homo sapiens (Human) – PPP6R3 gene & protein". https://www.uniprot.org/uniprot/Q5H9R7.
- ↑ "Protein phosphatase 6 promotes neurite outgrowth by promoting mTORC2 activity in N2a cells". Journal of Biochemistry 170 (1): 131–138. July 2021. doi:10.1093/jb/mvab028. PMID 34314486.
- ↑ 6.0 6.1 "PPP6R3-USP6 amplification: Novel oncogenic mechanism in malignant nodular fasciitis". Genes, Chromosomes & Cancer 55 (8): 640–9. August 2016. doi:10.1002/gcc.22366. PMID 27113271.
- ↑ "Ubiquitin-specific Peptidase 6 (USP6)-associated Fibroblastic/Myofibroblastic Tumors: Evolving Concepts". Cancer Genomics & Proteomics 18 (2): 93–101. 2021. doi:10.21873/cgp.20244. PMID 33608306.
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