SASS6

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] Band 1p21.2 Start 100,083,563 bp [1] End 100,132,955 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 G1 Start 116,388,631 bp [2] End 116,424,653 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte testicle gonad ventricular zone ganglionic eminence Achilles tendon endothelial cell rectum appendix Top expressed in spermatid spermatocyte genital tubercle tail of embryo Paneth cell seminiferous tubule ventricular zone gray matter layer of cerebellum granulocyte maxillary prominence More reference expression data BioGPS n/a
Gene ontology Molecular 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
Orthologs Species Human Mouse Entrez 163786 72776 Ensembl ENSG00000156876 ENSMUSG00000027959 UniProt Q6UVJ0 Q80UK7 RefSeq (mRNA) NM_194292 NM_001304829 NM_001289568 NM_001289571 NM_028349 RefSeq (protein) NP_001291758 NP_919268 NP_001276497 NP_001276500 NP_082625 Location (UCSC) Chr 1: 100.08 – 100.13 Mb Chr 3: 116.39 – 116.42 Mb PubMed search [3] [4]
Wikidata
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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

1. GRCh38: Ensembl release 89: ENSG00000156876 – Ensembl, May 2017
2. 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.

Further reading

• 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.