Survival motor neuron domain containing 1
Survival of motor neuron-related-splicing factor 30 is a protein that in humans is encoded by the SMNDC1 gene.[5][6][7]
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| Aliases | SMNDC1, SMNR, SPF30, TDRD16C, Survival motor neuron domain containing 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 603519 MGI: 1923729 HomoloGene: 4290 GeneCards: SMNDC1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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References
- GRCh38: Ensembl release 89: ENSG00000119953 - Ensembl, May 2017
- 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".
Further reading
- 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. 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. PMID 36044849.
- Enders L, Siklos M, Borggräfe J, et al. (2023). "Pharmacological perturbation of the phase-separating protein SMNDC1". Nature Communications. 14 (1): 4504. doi:10.1038/s41467-023-40124-0. PMID 37587144.
External links
- SMNDC1 human gene location in the UCSC Genome Browser.
- SMNDC1 human gene details in the UCSC Genome Browser.
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