From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Survival of motor neuron-related-splicing factor 30 (SMNDC1) is a protein that in humans is encoded by the SMNDC1 gene .[ 5] [ 6] [ 7]
SMNDC1 is an important splicing regulator[ 8] alternative splicing via inclusion a highly conserved poison exon .[ 9]
^ a b c GRCh38: Ensembl release 89: ENSG00000119953 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025024 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Neubauer G, King A, Rappsilber J , Calvio C, Watson M, Ajuh P, Sleeman J, Lamond A, Mann M (Oct 1998). "Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex". Nat Genet . 20 (1): 46–50. doi :10.1038/1700 . PMID 9731529 . S2CID 585778 . ^ Talbot K, Miguel-Aliaga I, Mohaghegh P, Ponting CP, Davies KE (Jan 1999). "Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex" . Hum Mol Genet . 7 (13): 2149–56. doi :10.1093/hmg/7.13.2149 PMID 9817934 . ^ "Entrez Gene: SMNDC1 survival motor neuron domain containing 1" .^ ^ Belleville AE, Thomas JD, Tonnies J, Gabel AM, Borrero Rossi A, Singh P, Queitsch C, Bradley RK (2024-08-16). Copenhaver GP (ed.). "An autoregulatory poison exon in Smndc1 is conserved across kingdoms and influences organism growth" . PLOS Genetics . 20 (8): e1011363. doi :10.1371/journal.pgen.1011363 ISSN 1553-7404 . PMC 11357089 PMID 39150991 .
Rappsilber J, Ajuh P, Lamond AI, Mann M (2001). "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. doi :10.1074/jbc.M103620200 PMID 11331295 . Meister G, Hannus S, Plöttner O, et al. (2001). "SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome" . EMBO J . 20 (9): 2304–14. doi :10.1093/emboj/20.9.2304 . PMC 125440 PMID 11331595 . 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 . 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 . Narayanan U, Achsel T, Lührmann R, Matera AG (2004). "Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein" . Mol. Cell . 16 (2): 223–34. doi :10.1016/j.molcel.2004.09.024 hdl :11858/00-001M-0000-0012-EC0E-7 PMID 15494309 . Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics". Nature . 433 (7021): 77–83. Bibcode :2005Natur.433...77A . doi :10.1038/nature03207 . PMID 15635413 . S2CID 4344740 . Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol . 24 (10): 1285–92. doi :10.1038/nbt1240 . PMID 16964243 . S2CID 14294292 . 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 . Casteels T, Bajew S, Reinis J, et al. (2022). "SMNDC1 links chromatin remodeling and splicing to regulate pancreatic hormone expression" . Cell Reports . 40 (9): 111288. doi :10.1016/j.celrep.2022.111288 hdl :10230/54590 PMID 36044849 .
