Protein-coding gene in the species Homo sapiens
Protein kinase C and casein kinase substrate in neurons protein 3 is an enzyme that in humans is encoded by the PACSIN3 gene .[ 5] [ 6]
Human disease
Biallelic truncating variants in the PACSIN3 gene has been associated with hyperCKemia and childhood onset myopathy
PACSIN3 has been shown to interact with PACSIN1 [ 7] and PACSIN2 .[ 7]
Modregger J, Ritter B, Witter B, et al. (2001). "All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis". J. Cell Sci . 113. Pt 24 (24): 4511–21. doi :10.1242/jcs.113.24.4511 . PMID 11082044 .
Sumoy L, Pluvinet R, Andreu N, et al. (2001). "PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family". Gene . 262 (1–2): 199–205. doi :10.1016/S0378-1119(00)00531-X . PMID 11179684 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 . PMC 139241 . PMID 12477932 .
Mori S, Tanaka M, Nanba D, et al. (2003). "PACSIN3 binds ADAM12/meltrin alpha and up-regulates ectodomain shedding of heparin-binding epidermal growth factor-like growth factor" . J. Biol. Chem . 278 (46): 46029–34. doi :10.1074/jbc.M306393200 . PMID 12952982 .
Schulze WX, Mann M (2004). "A novel proteomic screen for peptide-protein interactions" . J. Biol. Chem . 279 (11): 10756–64. doi :10.1074/jbc.M309909200 . PMID 14679214 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 . PMID 14702039 .
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 . PMID 15489334 .
Onodera Y, Hashimoto S, Hashimoto A, et al. (2005). "Expression of AMAP1, an ArfGAP, provides novel targets to inhibit breast cancer invasive activities" . EMBO J . 24 (5): 963–73. doi :10.1038/sj.emboj.7600588 . PMC 554134 . PMID 15719014 .
Cuajungco MP, Grimm C, Oshima K, et al. (2006). "PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4" . J. Biol. Chem . 281 (27): 18753–62. doi :10.1074/jbc.M602452200 . hdl :2066/51163 . PMID 16627472 .
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks" . Cell . 127 (3): 635–48. doi :10.1016/j.cell.2006.09.026 . PMID 17081983 . S2CID 7827573 .
Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry" . Mol. Syst. Biol . 3 (1): 89. doi :10.1038/msb4100134 . PMC 1847948 . PMID 17353931 .
Distelmaier F, Sezer A, Helm C, et al. (2024). "Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia". Brain . awae099 (7): e45–e49. doi :10.1093/brain/awae099 . PMID 38637313 .