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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
Gene: SMNDC1     survival motor neuron domain containing 1Homo sapiens
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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

 

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

  1. 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)
  2. 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)
  3. 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)
  4. 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)
  5. 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)
 
 
 
 
 
 
 
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