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SMNDC1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4A4F, 4A4H
Identifiers
Aliases	SMNDC1, SMNR, SPF30, TDRD16C, Survival motor neuron domain containing 1
External IDs	OMIM: 603519; MGI: 1923729; HomoloGene: 4290; GeneCards: SMNDC1; OMA:SMNDC1 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) Band 10q25.2 Start 110,290,730 bp End 110,304,938 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19|19 D2 Start 53,367,821 bp End 53,379,009 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in amniotic fluid buccal mucosa cell germinal epithelium cartilage tissue gingival epithelium parietal pleura retinal pigment epithelium jejunal mucosa palpebral conjunctiva biceps brachii Top expressed in cumulus cell endocardial cushion plantaris muscle granulocyte epiblast atrioventricular valve migratory enteric neural crest cell abdominal wall cardiac muscle tissue of left ventricle primitive streak More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding RNA binding Cellular component spliceosomal complex Cajal body cytoplasm nucleus nuclear speck nucleoplasm Biological process RNA splicing mRNA processing RNA splicing, via transesterification reactions apoptotic process mRNA splicing, via spliceosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10285 76479 Ensembl ENSG00000119953 ENSMUSG00000025024 UniProt O75940 Q8BGT7 RefSeq (mRNA) NM_005871 NM_172429 NM_001356986 RefSeq (protein) NP_005862 NP_766017 NP_001343915 Location (UCSC) Chr 10: 110.29 – 110.3 Mb Chr 19: 53.37 – 53.38 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Survival of motor neuron-related-splicing factor 30 (SMNDC1) is a protein that in humans is encoded by the SMNDC1 gene.

SMNDC1 is an important splicing regulator and is itself regulated by alternative splicing via inclusion a highly conserved poison exon.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000119953 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000025024 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: SMNDC1 survival motor neuron domain containing 1".
8. Enders L, Siklos M, Borggräfe J, Gaussmann S, Koren A, Malik M, Tomek T, Schuster M, Reiniš J, Hahn E, Rukavina A, Reicher A, Casteels T, Bock C, Winter GE (2023-08-16). "Pharmacological perturbation of the phase-separating protein SMNDC1". Nature Communications. 14 (1): 4504. Bibcode:2023NatCo..14.4504E. doi:10.1038/s41467-023-40124-0. ISSN 2041-1723. PMC 10432564. PMID 37587144.
9. 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.

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. 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.
• Enders L, Siklos M, Borggräfe J, et al. (2023). "Pharmacological perturbation of the phase-separating protein SMNDC1". Nature Communications. 14 (1): 4504. Bibcode:2023NatCo..14.4504E. doi:10.1038/s41467-023-40124-0. PMC 10432564. 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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