From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene .[ 5] [ 6] [ 7]
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 [ edit ] Mutations in SASS6 are associated to MCPH .[ 9]
^ 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): 570–4. 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". Nat. Cell Biol . 7 (2): 115–25. 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" . Dev. Cell . 13 (2): 203–13. doi :10.1016/j.devcel.2007.07.004 . PMC 2628752 PMID 17681132 . ^ Khan, M. A.; Rupp, V. M.; Orpinell, M; Hussain, M. S.; Altmüller, J; Steinmetz, M. O.; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, S. M.; Ansar, M; Nürnberg, P; Vincent, J. B.; Speicher, M. R.; Gönczy, P; Windpassinger, C (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): 5940–9. doi :10.1093/hmg/ddu318 PMID 24951542 .
Dammermann A, Müller-Reichert T, Pelletier L, et al. (2004). "Centriole assembly requires both centriolar and pericentriolar material proteins" . Dev. Cell . 7 (6): 815–29. doi :10.1016/j.devcel.2004.10.015 PMID 15572125 . Kleylein-Sohn J, Westendorf J, Le Clech M, et al. (2007). "Plk4-induced centriole biogenesis in human cells" . Dev. 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". Nat. Cell Biol . 7 (11): 1140–6. doi :10.1038/ncb1320 . PMID 16244668 . S2CID 1349505 . Lunardi A, Di Minin G, Provero P, et al. (2010). "A genome-scale protein interaction profile of Drosophila p53 uncovers additional nodes of the human p53 network" . Proc. Natl. Acad. Sci. U.S.A . 107 (14): 6322–7. Bibcode :2010PNAS..107.6322L . doi :10.1073/pnas.1002447107 PMC 2851947 PMID 20308539 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . 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, et al. (2009). "CPAP is a cell-cycle regulated protein that controls centriole length" . Nat. Cell Biol . 11 (7): 825–31. doi :10.1038/ncb1889 PMID 19503075 . S2CID 7478662 . Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1" . Nature . 441 (7091): 315–21. Bibcode :2006Natur.441..315G . doi :10.1038/nature04727 PMID 16710414 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
