Survival motor neuron domain containing 1 explained

Survival of motor neuron-related-splicing factor 30 (SMNDC1) is a protein that in humans is encoded by the SMNDC1 gene.^{[1] [2] [3]}

SMNDC1 is an important splicing regulator^[4] and is itself regulated by alternative splicing via inclusion a highly conserved poison exon.^[5]

Further reading

• Rappsilber J, Ajuh P, Lamond AI, Mann M . SPF30 is an essential human splicing factor required for assembly of the U4/U5/U6 tri-small nuclear ribonucleoprotein into the spliceosome. . J. Biol. Chem. . 276 . 33 . 31142–50 . 2001 . 11331295 . 10.1074/jbc.M103620200 . free .
• Meister G, Hannus S, Plöttner O, etal . SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome. . EMBO J. . 20 . 9 . 2304–14 . 2001 . 11331595 . 10.1093/emboj/20.9.2304 . 125440 .
• 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 .
• 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 .
• Narayanan U, Achsel T, Lührmann R, Matera AG . Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein. . Mol. Cell . 16 . 2 . 223–34 . 2004 . 15494309 . 10.1016/j.molcel.2004.09.024 . free . 11858/00-001M-0000-0012-EC0E-7 . free .
• Andersen JS, Lam YW, Leung AK, etal . Nucleolar proteome dynamics. . Nature . 433 . 7021 . 77–83 . 2005 . 15635413 . 10.1038/nature03207 . 2005Natur.433...77A . 4344740 .
• Beausoleil SA, Villén J, Gerber SA, etal . A probability-based approach for high-throughput protein phosphorylation analysis and site localization. . Nat. Biotechnol. . 24 . 10 . 1285–92 . 2006 . 16964243 . 10.1038/nbt1240 . 14294292 .
• 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 .
• Casteels T, Bajew S, Reinis J, etal . SMNDC1 links chromatin remodeling and splicing to regulate pancreatic hormone expression. . Cell Reports . 40 . 9. 111288 . 2022 . 36044849 . 10.1016/j.celrep.2022.111288 . free . 10230/54590 . free .
• Enders L, Siklos M, Borggräfe J, etal . Pharmacological perturbation of the phase-separating protein SMNDC1. . Nature Communications . 14 . 1. 4504 . 2023 . 37587144 . 10.1038/s41467-023-40124-0 . 10432564 . 2023NatCo..14.4504E . free .

Notes and References

1. Neubauer G, King A, Rappsilber J, Calvio C, Watson M, Ajuh P, Sleeman J, Lamond A, Mann M . Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex . Nat Genet . 20 . 1 . 46–50 . Oct 1998 . 9731529 . 10.1038/1700 . 585778 .
2. Talbot K, Miguel-Aliaga I, Mohaghegh P, Ponting CP, Davies KE . Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex . Hum Mol Genet . 7 . 13 . 2149–56 . Jan 1999 . 9817934 . 10.1093/hmg/7.13.2149 . free .
3. Web site: Entrez Gene: SMNDC1 survival motor neuron domain containing 1.
4. Enders . Lennart . Siklos . Marton . Borggräfe . Jan . Gaussmann . Stefan . Koren . Anna . Malik . Monika . Tomek . Tatjana . Schuster . Michael . Reiniš . Jiří . Hahn . Elisa . Rukavina . Andrea . Reicher . Andreas . Casteels . Tamara . Bock . Christoph . Winter . Georg E. . 2023-08-16 . Pharmacological perturbation of the phase-separating protein SMNDC1 . Nature Communications . en . 14 . 1 . 4504 . 10.1038/s41467-023-40124-0 . 37587144 . 2023NatCo..14.4504E . 2041-1723. 10432564 .
5. Belleville . Andrea E. . Thomas . James D. . Tonnies . Jackson . Gabel . Austin M. . Borrero Rossi . Andrea . Singh . Priti . Queitsch . Christine . Bradley . Robert K. . 2024-08-16 . Copenhaver . Gregory P. . An autoregulatory poison exon in Smndc1 is conserved across kingdoms and influences organism growth . PLOS Genetics . en . 20 . 8 . e1011363 . 10.1371/journal.pgen.1011363 . free . 1553-7404 . 11357089 . 39150991.