SASS6
| SASS6 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SASS6, SAS-6, SAS6, MCPH14, SAS-6 centriolar assembly protein | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 609321; MGI: 1920026; GeneCards: SASS6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene.[5][6][7]
Function
SAS-6 is necessary for centrosome duplication and functions during procentriole formation; SAS-6 functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle.[8]
Clinical significance
Mutations in SASS6 are associated to MCPH.[9]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000156876 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027959 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: spindle assembly 6 homolog (C. elegans)".
- ^ Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M (December 2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature. 426 (6966): 570–574. Bibcode:2003Natur.426..570A. doi:10.1038/nature02166. PMID 14654843. S2CID 4427303.
- ^ Leidel S, Delattre M, Cerutti L, Baumer K, Gönczy P (February 2005). "SAS-6 defines a protein family required for centrosome duplication in C. elegans and in human cells". Nature Cell Biology. 7 (2): 115–125. doi:10.1038/ncb1220. PMID 15665853. S2CID 4634352.
- ^ Strnad P, Leidel S, Vinogradova T, Euteneuer U, Khodjakov A, Gönczy P (August 2007). "Regulated HsSAS-6 levels ensure formation of a single procentriole per centriole during the centrosome duplication cycle". Developmental Cell. 13 (2): 203–213. doi:10.1016/j.devcel.2007.07.004. PMC 2628752. PMID 17681132.
- ^ Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmüller J, Steinmetz MO, et al. (November 2014). "A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family". Human Molecular Genetics. 23 (22): 5940–5949. doi:10.1093/hmg/ddu318. PMID 24951542.
Further reading
- Dammermann A, Müller-Reichert T, Pelletier L, Habermann B, Desai A, Oegema K (December 2004). "Centriole assembly requires both centriolar and pericentriolar material proteins". Developmental Cell. 7 (6): 815–829. doi:10.1016/j.devcel.2004.10.015. PMID 15572125.
- Kleylein-Sohn J, Westendorf J, Le Clech M, Habedanck R, Stierhof YD, Nigg EA (August 2007). "Plk4-induced centriole biogenesis in human cells". Developmental Cell. 13 (2): 190–202. doi:10.1016/j.devcel.2007.07.002. PMID 17681131.
- Habedanck R, Stierhof YD, Wilkinson CJ, Nigg EA (2005). "The Polo kinase Plk4 functions in centriole duplication". Nature Cell Biology. 7 (11): 1140–1146. doi:10.1038/ncb1320. PMID 16244668. S2CID 1349505.
- Lunardi A, Di Minin G, Provero P, Dal Ferro M, Carotti M, Del Sal G, et al. (April 2010). "A genome-scale protein interaction profile of Drosophila p53 uncovers additional nodes of the human p53 network". Proceedings of the National Academy of Sciences of the United States of America. 107 (14): 6322–6327. Bibcode:2010PNAS..107.6322L. doi:10.1073/pnas.1002447107. PMC 2851947. PMID 20308539.
- Sowa ME, Bennett EJ, Gygi SP, Harper JW (2009). "Defining the human deubiquitinating enzyme interaction landscape". Cell. 138 (2): 389–403. doi:10.1016/j.cell.2009.04.042. PMC 2716422. PMID 19615732.
- Tang CJ, Fu RH, Wu KS, Hsu WB, Tang TK (July 2009). "CPAP is a cell-cycle regulated protein that controls centriole length". Nature Cell Biology. 11 (7): 825–831. doi:10.1038/ncb1889. PMID 19503075. S2CID 7478662.
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