SASS6
| SASS6 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 1: 100.08 – 100.13 Mb | Chr 3: 116.39 – 116.42 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/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]
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
- ^ 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)".
- S2CID 4427303.
- S2CID 4634352.
- PMID 17681132.
- 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. 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. 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. 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. 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. PMID 12477932.
- Sowa ME, Bennett EJ, Gygi SP, Harper JW (2009). "Defining the human deubiquitinating enzyme interaction landscape". Cell. 138 (2): 389–403. 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. 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. PMID 16710414.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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