SASS6 (original) (raw)

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Protein-coding gene in the species Homo sapiens

SASS6
Identifiers
Aliases	SASS6, SAS-6, SAS6, MCPH14, SAS-6 centriolar assembly protein
External IDs	OMIM: 609321; MGI: 1920026; HomoloGene: 45668; GeneCards: SASS6; OMA:SASS6 - orthologs
Gene location (Human)Chr.Chromosome 1 (human)[1]Band1p21.2Start100,083,563 bp[1]End100,132,955 bp[1]
Gene location (Mouse)Chr.Chromosome 3 (mouse)[2]Band3|3 G1Start116,388,631 bp[2]End116,424,653 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inoocytesecondary oocytetesticlegonadventricular zoneganglionic eminenceAchilles tendonendothelial cellrectumappendixTop expressed inspermatidspermatocytegenital tubercletail of embryoPaneth cellseminiferous tubuleventricular zonegray matter layer of cerebellumgranulocytemaxillary prominenceMore reference expression dataBioGPSn/a
Gene ontologyMolecular function protein binding Cellular component cytoplasm centriole cytoskeleton deuterosome microtubule organizing center cytosol centrosome Biological process cell cycle centriole replication centrosome duplication Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez16378672776EnsemblENSG00000156876ENSMUSG00000027959UniProtQ6UVJ0Q80UK7RefSeq (mRNA)NM_194292NM_001304829NM_001289568NM_001289571NM_028349RefSeq (protein)NP_001291758NP_919268NP_001276497NP_001276500NP_082625Location (UCSC)Chr 1: 100.08 – 100.13 MbChr 3: 116.39 – 116.42 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000156876 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027959 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: spindle assembly 6 homolog (C. elegans)".
6. ^ 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.
7. ^ 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.
8. ^ 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.
9. ^ 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.