6z4a

Structural highlights

Disease

SAS6_HUMAN Autosomal recessive primary microcephaly. The disease is caused by variants affecting the gene represented in this entry.

Function

SAS6_HUMAN Central scaffolding component of the centrioles ensuring their 9-fold symmetry. Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells. Overexpression results in excess foci-bearing centriolar markers. Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124).^{[1] [2] [3] [4]}

References

1. ↑ Leidel S, Delattre M, Cerutti L, Baumer K, Gonczy P. SAS-6 defines a protein family required for centrosome duplication in C. elegans and in human cells. Nat Cell Biol. 2005 Feb;7(2):115-25. PMID:15665853 doi:ncb1220
2. ↑ Habedanck R, Stierhof YD, Wilkinson CJ, Nigg EA. The Polo kinase Plk4 functions in centriole duplication. Nat Cell Biol. 2005 Nov;7(11):1140-6. PMID:16244668 doi:http://dx.doi.org/10.1038/ncb1320
3. ↑ Kleylein-Sohn J, Westendorf J, Le Clech M, Habedanck R, Stierhof YD, Nigg EA. Plk4-induced centriole biogenesis in human cells. Dev Cell. 2007 Aug;13(2):190-202. PMID:17681131 doi:http://dx.doi.org/10.1016/j.devcel.2007.07.002
4. ↑ Tang CJ, Lin SY, Hsu WB, Lin YN, Wu CT, Lin YC, Chang CW, Wu KS, Tang TK. The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation. EMBO J. 2011 Oct 21;30(23):4790-804. doi: 10.1038/emboj.2011.378. PMID:22020124 doi:http://dx.doi.org/10.1038/emboj.2011.378