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SASS6

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene.{{cite web | title = Entrez Gene: spindle assembly 6 homolog (C. elegans)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=163786}}{{cite journal | vauthors = Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M | title = Proteomic characterization of the human centrosome by protein correlation profiling | journal = Nature | volume = 426 | issue = 6966 | pages = 570–4 |date=December 2003 | pmid = 14654843 | doi = 10.1038/nature02166 | bibcode = 2003Natur.426..570A | s2cid = 4427303 }}{{cite journal | vauthors = Leidel S, Delattre M, Cerutti L, Baumer K, Gönczy P | title = SAS-6 defines a protein family required for centrosome duplication in C. elegans and in human cells | journal = Nat. Cell Biol. | volume = 7 | issue = 2 | pages = 115–25 |date=February 2005 | pmid = 15665853 | doi = 10.1038/ncb1220 | s2cid = 4634352 }}

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.{{cite journal | vauthors = Strnad P, Leidel S, Vinogradova T, Euteneuer U, Khodjakov A, Gönczy P | title = Regulated HsSAS-6 levels ensure formation of a single procentriole per centriole during the centrosome duplication cycle | journal = Dev. Cell | volume = 13 | issue = 2 | pages = 203–13 |date=August 2007 | pmid = 17681132 | pmc = 2628752 | doi = 10.1016/j.devcel.2007.07.004 }}

Clinical significance

Mutations in SASS6 are associated to MCPH.{{Cite journal

| pmid = 24951542

| year = 2014

| last1 = Khan

| first1 = M. A.

| title = A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

| journal = Human Molecular Genetics

| last2 = Rupp

| first2 = V. M.

| last3 = Orpinell

| first3 = M

| last4 = Hussain

| first4 = M. S.

| last5 = Altmüller

| first5 = J

| last6 = Steinmetz

| first6 = M. O.

| last7 = Enzinger

| first7 = C

| last8 = Thiele

| first8 = H

| last9 = Höhne

| first9 = W

| last10 = Nürnberg

| first10 = G

| last11 = Baig

| first11 = S. M.

| last12 = Ansar

| first12 = M

| last13 = Nürnberg

| first13 = P

| last14 = Vincent

| first14 = J. B.

| last15 = Speicher

| first15 = M. R.

| last16 = Gönczy

| first16 = P

| last17 = Windpassinger

| first17 = C

| doi = 10.1093/hmg/ddu318

| volume=23

| issue = 22

| pages=5940–9

| doi-access = free

}}

References

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Further reading

{{refbegin | 2}}

  • {{cite journal |vauthors=Dammermann A, Müller-Reichert T, Pelletier L|title=Centriole assembly requires both centriolar and pericentriolar material proteins. |journal=Dev. Cell |volume=7 |issue= 6 |pages= 815–29 |year= 2004 |pmid= 15572125 |doi= 10.1016/j.devcel.2004.10.015 |display-authors=etal|doi-access=free }}
  • {{cite journal |vauthors=Kleylein-Sohn J, Westendorf J, Le Clech M, etal |title=Plk4-induced centriole biogenesis in human cells. |journal=Dev. Cell |volume=13 |issue= 2 |pages= 190–202 |year= 2007 |pmid= 17681131 |doi= 10.1016/j.devcel.2007.07.002 |url=http://nbn-resolving.de/urn:nbn:de:bvb:19-100880 |doi-access=free }}
  • {{cite journal |vauthors=Habedanck R, Stierhof YD, Wilkinson CJ, Nigg EA |title=The Polo kinase Plk4 functions in centriole duplication. |journal=Nat. Cell Biol. |volume=7 |issue= 11 |pages= 1140–6 |year= 2005 |pmid= 16244668 |doi= 10.1038/ncb1320 |s2cid=1349505 }}
  • {{cite journal |vauthors=Lunardi A, Di Minin G, Provero P, etal |title=A genome-scale protein interaction profile of Drosophila p53 uncovers additional nodes of the human p53 network. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=107 |issue= 14 |pages= 6322–7 |year= 2010 |pmid= 20308539 |doi= 10.1073/pnas.1002447107 |pmc=2851947|bibcode=2010PNAS..107.6322L |doi-access=free }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal |vauthors=Sowa ME, Bennett EJ, Gygi SP, Harper JW |title=Defining the human deubiquitinating enzyme interaction landscape. |journal=Cell |volume=138 |issue= 2 |pages= 389–403 |year= 2009 |pmid= 19615732 |doi= 10.1016/j.cell.2009.04.042 |pmc=2716422}}
  • {{cite journal |vauthors=Tang CJ, Fu RH, Wu KS, etal |title=CPAP is a cell-cycle regulated protein that controls centriole length. |journal=Nat. Cell Biol. |volume=11 |issue= 7 |pages= 825–31 |year= 2009 |pmid= 19503075 |doi= 10.1038/ncb1889 |s2cid=7478662 |doi-access=free }}
  • {{cite journal |vauthors=Gregory SG, Barlow KF, McLay KE, etal |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |bibcode=2006Natur.441..315G |doi-access=free }}

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{{NLM content}}

{{Centrosome}}

{{gene-1-stub}}