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Gene Review:

Smn1 - survival of motor neuron 1, telomeric

Rattus norvegicus

Synonyms: Smn, Survival motor neuron protein

Zhang, H.L. et al., Schmalbruch, H. et al., Sengupta, A. et al., Pena, E. et al., Young, P.J. et al., et al.

La Bella, Kallenbach, Pettmann, Schmalbruch, Haase,

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Disease relevance of Smn1

The Ewing's sarcoma protein interacts with the Tudor domain of the survival motor neuron protein [1].
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by deletion and/or mutation of the survival motor neuron protein Gene (SMN1) that results in the expression of a truncated protein lacking the C terminal exon-7 [2].

High impact information on Smn1

Recently, genetic mouse models of SMA have been created by introducing human SMN2 transgenes into Smn knockout mice or by targeting the Smn gene knockout to neurons [3].
In all neuronal types, CBs concentrate coilin, fibrillarin, snRNPs, and the survival motor neuron protein (SMN) [4].
These genes include those encoding survival motor neuron protein, synaptic vesicle protein SVOP, and neural cell adhesion molecule NCAM [5].
Post-translational modifications in the survival motor neuron protein [6].
Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization [2].

References

The Ewing's sarcoma protein interacts with the Tudor domain of the survival motor neuron protein. Young, P.J., Francis, J.W., Lince, D., Coon, K., Androphy, E.J., Lorson, C.L. Brain Res. Mol. Brain Res. (2003) [Pubmed]
Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. Zhang, H.L., Pan, F., Hong, D., Shenoy, S.M., Singer, R.H., Bassell, G.J. J. Neurosci. (2003) [Pubmed]
Spinal muscular atrophy: present state. Schmalbruch, H., Haase, G. Brain Pathol. (2001) [Pubmed]
Neuronal body size correlates with the number of nucleoli and Cajal bodies, and with the organization of the splicing machinery in rat trigeminal ganglion neurons. Pena, E., Berciano, M.T., Fernandez, R., Ojeda, J.L., Lafarga, M. J. Comp. Neurol. (2001) [Pubmed]
Heme deficiency suppresses the expression of key neuronal genes and causes neuronal cell death. Sengupta, A., Hon, T., Zhang, L. Brain Res. Mol. Brain Res. (2005) [Pubmed]
Post-translational modifications in the survival motor neuron protein. La Bella, V., Kallenbach, S., Pettmann, B. Biochem. Biophys. Res. Commun. (2004) [Pubmed]

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SMN2	Bos taurus
SMN	Canis lupus familiaris
smn1	Danio rerio
SMN	Gallus gallus
SMN2	Homo sapiens
SMN1	Homo sapiens
SMN1	Macaca mulatta
Smn1	Mus musculus
LOC461829	Pan troglodytes
smn2	Xenopus (Silurana) tropicalis

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