Survival motor neuron domain containing 1

From Wikipedia, the free encyclopedia

Identifiers

SMNDC1; SMNR; SPF30

External IDs

OMIM: 603519 MGI: 1923729 HomoloGene: 4290

Gene ontology
Molecular Function:	• protein binding • RNA splicing factor activity, transesterification mechanism
Cellular Component:	• nucleus • spliceosome • cytoplasm
Biological Process:	• spliceosome assembly • mRNA processing • apoptosis • induction of apoptosis • RNA splicing

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_005871 (mRNA)
NP_005862 (protein)

NM_172429 (mRNA)
NP_766017 (protein)

Location

Chr 10: 112.04 - 112.05 Mb

Chr 19: 53.43 - 53.44 Mb

Pubmed search

[1]

[2]

Survival motor neuron domain containing 1, also known as SMNDC1, is a human gene.^[1]

[edit] References

^ Entrez Gene: SMNDC1 survival motor neuron domain containing 1.

[edit] Further reading

Neubauer G, King A, Rappsilber J, et al. (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.
Talbot K, Miguel-Aliaga I, Mohaghegh P, et al. (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. PMID 9817934.
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. 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. 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. 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: 89. doi:10.1038/msb4100134. PMID 17353931.