SASS6 Protein-coding gene in humans
Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene .
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 .
Clinical significance
Mutations in SASS6 are associated to MCPH .
References
1 2 3 GRCh38: Ensembl release 89: ENSG00000156876 – Ensembl , May 20171 2 3 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 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
