Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Javascript disabled

Please enable Javascript support in your browser to use this application.

Instructions on how to enable JavaScript on different browsers can be found here: http://www.google.com/support/bin/answer.py?answer=23852.

Gene: SMNDC1 - survival motor neuron domain containing 1

Homo sapiens

Synonyms: 30 kDa splicing factor SMNrp, SMNR, SMN-related protein, SPF30, Survival motor neuron domain-containing protein 1, Survival of motor neuron-related splicing factor 30, Survival of motor neuron-related-splicing factor 30

[edit this page]

Rappsilber, J., Gennarelli, M., Autier, P., Meister, G., Talbot, K.

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text.

Ideally this entry shall become one comprehensive and continuous article. Bulleted lists, for instance, were only used because it is impossible to automatically integrate independent facts into a continuous text.

Much of the current information on this page has been automatically compiled from Pubmed.

This precompiled information serves as a substrate and matrix to embed your contributions, but it is by no means the final word - Homo sapiens can do much better!

WikiGenes is a non-profit and open access community project.

High impact information on SMNDC1

SMNrp, also termed SPF30, has recently been identified in spliceosomes assembled in vitro [1].
The SMNrp/SPF30 gene has been mapped to chromosome 10q23 [2].
We show here that SPF30 is a nuclear protein that associates with both U4/U5/U6 and U2 snRNP components [3].
Mass spectrometric analysis shows that a recombinant glutathione S-transferase-SPF30 fusion protein associates with complexes containing core Sm and U4/U5/U6 tri-snRNP proteins when added to HeLa nuclear extract, most strongly to U4/U6-90 [3].
A recent proteomic analysis of the human spliceosome identified SPF30 (Neubauer, G., King, A., Rappsilber, J., Calvio, C., Watson, M., Ajuh, P., Sleeman, J., Lamond, A., and Mann, M. (1998) Nat. Genet. 20, 46-50), a homolog of the survival of motor neurons (SMN) protein, as a spliceosome factor [3].

Biological context of SMNDC1

Our results suggest that multiple RNA splicing is operative in the two SMN-related genes and that SMN-related polypeptides may be active in the muscle [4].

Physical interactions of SMNDC1

The data indicate that SPF30 is an essential human splicing factor that may act to dock the U4/U5/U6 tri-snRNP to the A complex during spliceosome assembly or, alternatively, may act as a late assembly factor in both the tri-snRNP and the A-complex [3].

Analytical, diagnostic and therapeutic context of SMNDC1

Of all participants, those who used the SPF 30 sunscreen and had no sunburn spent the highest number of hours in sunbathing activities [5].

References

SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome. Meister, G., Hannus, S., Plöttner, O., Baars, T., Hartmann, E., Fakan, S., Laggerbauer, B., Fischer, U. EMBO J. (2001)
Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex. Talbot, K., Miguel-Aliaga, I., Mohaghegh, P., Ponting, C.P., Davies, K.E. Hum. Mol. Genet. (1998)
SPF30 is an essential human splicing factor required for assembly of the U4/U5/U6 tri-small nuclear ribonucleoprotein into the spliceosome. Rappsilber, J., Ajuh, P., Lamond, A.I., Mann, M. J. Biol. Chem. (2001)
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Gennarelli, M., Lucarelli, M., Capon, F., Pizzuti, A., Merlini, L., Angelini, C., Novelli, G., Dallapiccola, B. Biochem. Biophys. Res. Commun. (1995)
Sunscreen use and intentional exposure to ultraviolet A and B radiation: a double blind randomized trial using personal dosimeters. Autier, P., Doré, J.F., Reis, A.C., Grivegnée, A., Ollivaud, L., Truchetet, F., Chamoun, E., Rotmensz, N., Severi, G., Césarini, J.P. Br. J. Cancer (2000)