PACSIN3 explained

Protein kinase C and casein kinase substrate in neurons protein 3 is an enzyme that in humans is encoded by the PACSIN3 gene.^{[1] [2]}

Human disease

Biallelic truncating variants in the PACSIN3 gene has been associated with hyperCKemia and childhood onset myopathy

Interactions

PACSIN3 has been shown to interact with PACSIN1^[3] and PACSIN2.^[3]

Further reading

• Modregger J, Ritter B, Witter B, etal . All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis. . 113 . J. Cell Sci. . Pt 24 . 4511–21 . 2001 . 24 . 10.1242/jcs.113.24.4511 . 11082044 .
• Sumoy L, Pluvinet R, Andreu N, etal . PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family. . Gene . 262 . 1–2 . 199–205 . 2001 . 11179684 . 10.1016/S0378-1119(00)00531-X .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Mori S, Tanaka M, Nanba D, etal . 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 . 2003 . 12952982 . 10.1074/jbc.M306393200 . free .
• Schulze WX, Mann M . A novel proteomic screen for peptide-protein interactions. . J. Biol. Chem. . 279 . 11 . 10756–64 . 2004 . 14679214 . 10.1074/jbc.M309909200 . free .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Onodera Y, Hashimoto S, Hashimoto A, etal . Expression of AMAP1, an ArfGAP, provides novel targets to inhibit breast cancer invasive activities. . EMBO J. . 24 . 5 . 963–73 . 2005 . 15719014 . 10.1038/sj.emboj.7600588 . 554134 .
• Cuajungco MP, Grimm C, Oshima K, etal . PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4. . J. Biol. Chem. . 281 . 27 . 18753–62 . 2006 . 16627472 . 10.1074/jbc.M602452200 . free . 2066/51163 . free .
• Olsen JV, Blagoev B, Gnad F, etal . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .
• Ewing RM, Chu P, Elisma F, etal . Large-scale mapping of human protein-protein interactions by mass spectrometry. . Mol. Syst. Biol. . 3 . 1. 89 . 2007 . 17353931 . 10.1038/msb4100134 . 1847948 .
• Distelmaier F, Sezer A, Helm C, etal . Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia. . Brain . awae099 . 2024 . 38637313 . 10.1093/brain/awae099 .

Notes and References

1. Howard L, Nelson KK, Maciewicz RA, Blobel CP . Interaction of the metalloprotease disintegrins MDC9 and MDC15 with two SH3 domain-containing proteins, endophilin I and SH3PX1 . J Biol Chem . 274 . 44 . 31693–9 . December 1999 . 10531379 . 10.1074/jbc.274.44.31693 . free .
2. Web site: Entrez Gene: PACSIN3 protein kinase C and casein kinase substrate in neurons 3.
3. Modregger . J . Ritter B . Witter B . Paulsson M . Plomann M . December 2000 . All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis . J. Cell Sci. . Pt 24 . 4511–21 . ENGLAND. 0021-9533. 11082044 . 113 . 24 . 10.1242/jcs.113.24.4511 .