Scientific background: |
Small ubiquitin-related modifier 1(SUMO1), also called SMT3C or PIC1 is a protein that in humans is encoded by the SUMO1 gene. This gene is mapped to 2q33.1. This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. |
References: |
1. Alkuraya, F. S., Saadi, I., Lund, J. L., Turbe-Doan, A., Morton, C. C., Maas, R. L. SUMO1 haploinsufficiency leads to cleft lip and palate. Science 313: 1751 only, 2006.
2. Kho, C., Lee, A., Jeong, D., Oh, J. G., Chaanine, A. H., Kizana, E., Park, W. J., Hajjar, R. J. SUMO1-dependent modulation of SERCA2a in heart failure. Nature 477: 601-605, 2011.
3. Martin, S., Nishimune, A., Mellor, J. R., Henley, J. M. SUMOylation regulates kainate-receptor-mediated synaptic transmission. Nature 447: 321-325, 2007.
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