Survival motor neuron domain containing 1
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{{Short description|Protein-coding gene in the species Homo sapiens}}
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Survival of motor neuron-related-splicing factor 30 (SMNDC1) is a protein that in humans is encoded by the SMNDC1 gene.{{cite journal |vauthors=Neubauer G, King A, Rappsilber J, Calvio C, Watson M, Ajuh P, Sleeman J, Lamond A, Mann M | title = Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex | journal = Nat Genet | volume = 20 | issue = 1 | pages = 46–50 |date=Oct 1998 | pmid = 9731529 | doi = 10.1038/1700 | s2cid = 585778 }}{{cite journal |vauthors=Talbot K, Miguel-Aliaga I, Mohaghegh P, Ponting CP, Davies KE | title = Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex | journal = Hum Mol Genet | volume = 7 | issue = 13 | pages = 2149–56 |date=Jan 1999 | pmid = 9817934 | doi =10.1093/hmg/7.13.2149 | doi-access = free }}{{cite web | title = Entrez Gene: SMNDC1 survival motor neuron domain containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10285}}
SMNDC1 is an important splicing regulator{{Cite journal |last1=Enders |first1=Lennart |last2=Siklos |first2=Marton |last3=Borggräfe |first3=Jan |last4=Gaussmann |first4=Stefan |last5=Koren |first5=Anna |last6=Malik |first6=Monika |last7=Tomek |first7=Tatjana |last8=Schuster |first8=Michael |last9=Reiniš |first9=Jiří |last10=Hahn |first10=Elisa |last11=Rukavina |first11=Andrea |last12=Reicher |first12=Andreas |last13=Casteels |first13=Tamara |last14=Bock |first14=Christoph |last15=Winter |first15=Georg E. |date=2023-08-16 |title=Pharmacological perturbation of the phase-separating protein SMNDC1 |url=https://www.nature.com/articles/s41467-023-40124-0 |journal=Nature Communications |language=en |volume=14 |issue=1 |pages=4504 |doi=10.1038/s41467-023-40124-0 |pmid=37587144 |bibcode=2023NatCo..14.4504E |issn=2041-1723|pmc=10432564 }} and is itself regulated by alternative splicing via inclusion a highly conserved poison exon.{{Cite journal |last1=Belleville |first1=Andrea E. |last2=Thomas |first2=James D. |last3=Tonnies |first3=Jackson |last4=Gabel |first4=Austin M. |last5=Borrero Rossi |first5=Andrea |last6=Singh |first6=Priti |last7=Queitsch |first7=Christine |last8=Bradley |first8=Robert K. |date=2024-08-16 |editor-last=Copenhaver |editor-first=Gregory P. |title=An autoregulatory poison exon in Smndc1 is conserved across kingdoms and influences organism growth |journal=PLOS Genetics |language=en |volume=20 |issue=8 |pages=e1011363 |doi=10.1371/journal.pgen.1011363 |doi-access=free |issn=1553-7404 |pmc=11357089 |pmid=39150991}}
References
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Further reading
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- {{cite journal |vauthors=Rappsilber J, Ajuh P, Lamond AI, Mann M |title=SPF30 is an essential human splicing factor required for assembly of the U4/U5/U6 tri-small nuclear ribonucleoprotein into the spliceosome. |journal=J. Biol. Chem. |volume=276 |issue= 33 |pages= 31142–50 |year= 2001 |pmid= 11331295 |doi= 10.1074/jbc.M103620200 |doi-access= free }}
- {{cite journal |vauthors=Meister G, Hannus S, Plöttner O, etal |title=SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome. |journal=EMBO J. |volume=20 |issue= 9 |pages= 2304–14 |year= 2001 |pmid= 11331595 |doi= 10.1093/emboj/20.9.2304 | pmc=125440 }}
- {{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=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=Narayanan U, Achsel T, Lührmann R, Matera AG |title=Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein. |journal=Mol. Cell |volume=16 |issue= 2 |pages= 223–34 |year= 2004 |pmid= 15494309 |doi= 10.1016/j.molcel.2004.09.024 |doi-access= free |hdl= 11858/00-001M-0000-0012-EC0E-7 |hdl-access= free }}
- {{cite journal |vauthors=Andersen JS, Lam YW, Leung AK, etal |title=Nucleolar proteome dynamics. |journal=Nature |volume=433 |issue= 7021 |pages= 77–83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207 |bibcode=2005Natur.433...77A |s2cid=4344740 }}
- {{cite journal |vauthors=Beausoleil SA, Villén J, Gerber SA, etal |title=A probability-based approach for high-throughput protein phosphorylation analysis and site localization. |journal=Nat. Biotechnol. |volume=24 |issue= 10 |pages= 1285–92 |year= 2006 |pmid= 16964243 |doi= 10.1038/nbt1240 |s2cid=14294292 }}
- {{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=Casteels T, Bajew S, Reinis J, etal |title=SMNDC1 links chromatin remodeling and splicing to regulate pancreatic hormone expression. |journal=Cell Reports |volume=40 |issue= 9|pages= 111288 |year= 2022 |pmid= 36044849 |doi= 10.1016/j.celrep.2022.111288 |doi-access=free |hdl=10230/54590 |hdl-access=free }}
- {{cite journal |vauthors=Enders L, Siklos M, Borggräfe J, etal |title=Pharmacological perturbation of the phase-separating protein SMNDC1. |journal=Nature Communications |volume=14 |issue= 1|pages= 4504 |year= 2023 |pmid= 37587144 |doi= 10.1038/s41467-023-40124-0 |pmc=10432564 |bibcode=2023NatCo..14.4504E |doi-access=free }}
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External links
- {{UCSC genome browser|SMNDC1}}
- {{UCSC gene details|SMNDC1}}
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