Survival of motor neuron
| Survival motor neuron protein | |||||||||
|---|---|---|---|---|---|---|---|---|---|
 | |||||||||
| Identifiers | |||||||||
| Symbol | SMN | ||||||||
| Pfam | PF06003 | ||||||||
| Pfam clan | CL0049 | ||||||||
| InterPro | IPR010304 | ||||||||
| SCOP2 | 1mhn / SCOPe / SUPFAM | ||||||||
| |||||||||
The survival of motor neuron protein (SMN) is a complex of multiproteins involved in the assembly of snRNPs, the essential components of spliceosomal machinery.[2] It is encoded by the gene SMN1. A lack of SMN due to SMN1 deletion results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy.
SMN also functions in transcriptional regulation, telomerase regeneration and cellular trafficking.[3]
SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. The protein complex includes at least six other proteins (gem-associated protein 2 - 7) [2]
Research also showed a possible role of SMN in neuronal migration and/or differentiation.[4]
Evolutionary conservation
SMN is evolutionary conserved including the Fungi kingdom, though only fungal organisms with a great number of introns has the smn gene (or the spf30 paralogue). Surprisingly, these are filamentous fungus which have mycelia, so suggesting analogy to the neuronal axons.[5]
See also
References
- ^ Selenko P, Sprangers R, Stier G, Bühler D, Fischer U, Sattler M (January 2001). "SMN tudor domain structure and its interaction with the Sm proteins". Nature Structural Biology. 8 (1): 27–31. doi:10.1038/83014. PMID 11135666.
- ^ a b Gubitz AK, Feng W, Dreyfuss G (May 2004). "The SMN complex". Experimental Cell Research. 296 (1): 51–6. doi:10.1016/j.yexcr.2004.03.022. PMID 15120993.
- ^ Singh NN, Shishimorova M, Cao LC, Gangwani L, Singh RN (2009). "A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy". RNA Biology.
- ^ http://cat.inist.fr/?aModele=afficheN&cpsidt=17713178
- ^ Mier P, Pérez-Pulido AJ (January 2012). "Fungal Smn and Spf30 homologues are mainly present in filamentous fungi and genomes with many introns: implications for spinal muscular atrophy". Gene. 491 (2): 135–41. doi:10.1016/j.gene.2011.10.006. PMID 22020225.
External links
- SMN+protein+(spinal+muscular+atrophy) at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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