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]

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
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q25.2 Start 110,290,730 bp[1] End 110,304,938 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 D2 Start 53,379,390 bp[2] End 53,390,578 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • RNA binding Cellular component • spliceosomal complex • Cajal body • cytoplasm • cell 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: 53.38 – 53.39 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.
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".

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. 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. doi:10.1038/nature03207. PMID 15635413.
• 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.
• 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.

External links

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