PACSIN3
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Protein kinase C and casein kinase substrate in neurons protein 3 is an enzyme that in humans is encoded by the PACSIN3 gene.{{cite journal |vauthors=Howard L, Nelson KK, Maciewicz RA, Blobel CP | title = Interaction of the metalloprotease disintegrins MDC9 and MDC15 with two SH3 domain-containing proteins, endophilin I and SH3PX1 | journal = J Biol Chem | volume = 274 | issue = 44 | pages = 31693–9 |date=December 1999 | pmid = 10531379 | doi =10.1074/jbc.274.44.31693 | doi-access = free }}{{cite web | title = Entrez Gene: PACSIN3 protein kinase C and casein kinase substrate in neurons 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=29763}}
Human disease
Biallelic truncating variants in the PACSIN3 gene has been associated with hyperCKemia and childhood onset myopathy.{{cite journal |vauthors=Distelmaier F, Sezer A, Helm C, etal |title=Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia. |journal=Brain |volume=awae099 |year= 2024 |issue=7 |pages=e45–e49 |pmid= 38637313 |doi= 10.1093/brain/awae099 }}
Interactions
PACSIN3 has been shown to interact with PACSIN1{{cite journal |last=Modregger |first=J |author2=Ritter B |author3=Witter B |author4=Paulsson M |author5=Plomann M |date=December 2000 |title=All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis |journal=J. Cell Sci. |volume=Pt 24 |pages=4511–21 |location = ENGLAND| issn = 0021-9533| pmid = 11082044 |series=113 |issue=24 |doi=10.1242/jcs.113.24.4511 }} and PACSIN2.
References
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Further reading
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- {{cite journal |vauthors=Modregger J, Ritter B, Witter B, etal |title=All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis. | series=113 |journal=J. Cell Sci. |volume=Pt 24 |pages= 4511–21 |year= 2001 |issue=24 |doi=10.1242/jcs.113.24.4511 |pmid= 11082044 }}
- {{cite journal |vauthors=Sumoy L, Pluvinet R, Andreu N, etal |title=PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family. |journal=Gene |volume=262 |issue= 1–2 |pages= 199–205 |year= 2001 |pmid= 11179684 |doi=10.1016/S0378-1119(00)00531-X }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Mori S, Tanaka M, Nanba D, etal |title=PACSIN3 binds ADAM12/meltrin alpha and up-regulates ectodomain shedding of heparin-binding epidermal growth factor-like growth factor. |journal=J. Biol. Chem. |volume=278 |issue= 46 |pages= 46029–34 |year= 2003 |pmid= 12952982 |doi= 10.1074/jbc.M306393200 |doi-access= free }}
- {{cite journal |vauthors=Schulze WX, Mann M |title=A novel proteomic screen for peptide-protein interactions. |journal=J. Biol. Chem. |volume=279 |issue= 11 |pages= 10756–64 |year= 2004 |pmid= 14679214 |doi= 10.1074/jbc.M309909200 |doi-access= free }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Onodera Y, Hashimoto S, Hashimoto A, etal |title=Expression of AMAP1, an ArfGAP, provides novel targets to inhibit breast cancer invasive activities. |journal=EMBO J. |volume=24 |issue= 5 |pages= 963–73 |year= 2005 |pmid= 15719014 |doi= 10.1038/sj.emboj.7600588 | pmc=554134 }}
- {{cite journal |vauthors=Cuajungco MP, Grimm C, Oshima K, etal |title=PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4. |journal=J. Biol. Chem. |volume=281 |issue= 27 |pages= 18753–62 |year= 2006 |pmid= 16627472 |doi= 10.1074/jbc.M602452200 |doi-access= free |hdl= 2066/51163 |hdl-access= free }}
- {{cite journal |vauthors=Olsen JV, Blagoev B, Gnad F, etal |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |s2cid=7827573 |doi-access=free }}
- {{cite journal |vauthors=Ewing RM, Chu P, Elisma F, etal |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue= 1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948 }}
- {{cite journal |vauthors=Distelmaier F, Sezer A, Helm C, etal |title=Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia. |journal=Brain |volume=awae099 |year= 2024 |issue=7 |pages=e45–e49 |pmid= 38637313 |doi= 10.1093/brain/awae099 }}
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