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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)
End	110,304,938 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	53,379,009 bp
RNA expression pattern
	Top expressed in
	Top expressed in
	More reference expression data
	More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
	Sources:Amigo / QuickGO
Orthologs
	10285
	76479
	ENSG00000119953
	ENSMUSG00000025024
	O75940
	Q8BGT7
	NM_005871
	NM_172429; NM_001356986
	NP_005862
	NP_766017; NP_001343915
	Wikidata
View/Edit Human	View/Edit Mouse

Survival of motor neuron-related-splicing factor 30 is a protein that in humans is encoded by the SMNDC1 gene.^[5]^[6]^[7]

References[edit]

^ ^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".

Further reading[edit]

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[edit]

SMNDC1 human gene location in the UCSC Genome Browser.
SMNDC1 human gene details in the UCSC Genome Browser.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000119953 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9731529-5] 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.

[pmid9817934-6] 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.

[entrez-7] "Entrez Gene: SMNDC1 survival motor neuron domain containing 1".

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