PACSIN3
An Error has occurred retrieving Wikidata item for infobox 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]
References
- ^ Howard L, Nelson KK, Maciewicz RA, Blobel CP (December 1999). "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. doi:10.1074/jbc.274.44.31693. PMID 10531379.
- ^ "Entrez Gene: PACSIN3 protein kinase C and casein kinase substrate in neurons 3".
- ^ 3.0 3.1 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. 113. Pt 24 (24). ENGLAND: 4511–21. doi:10.1242/jcs.113.24.4511. ISSN 0021-9533. PMID 11082044.
Further reading
- 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.
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