SASS6

Last updated
SASS6
Identifiers
Aliases SASS6 , SAS-6, SAS6, MCPH14, SAS-6 centriolar assembly protein
External IDs OMIM: 609321 MGI: 1920026 HomoloGene: 45668 GeneCards: SASS6
Orthologs
SpeciesHumanMouse
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
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]

Contents

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]

Related Research Articles

Centriole Organelle in eukaryotic cells that produces cilia and organizes the mitotic spindle

In cell biology a centriole is a cylindrical organelle composed mainly of a protein called tubulin. Centrioles are found in most eukaryotic cells, but are not present in conifers (Pinophyta), flowering plants (angiosperms) and most fungi, and are only present in the male gametes of charophytes, bryophytes, seedless vascular plants, cycads, and Ginkgo. A bound pair of centrioles, surrounded by a highly ordered mass of dense material, called the pericentriolar material (PCM), makes up a structure called a centrosome.

Centrosome Cell organelle in animal cell helping in cell division

In cell biology, the centrosome is an organelle that serves as the main microtubule organizing center (MTOC) of the animal cell, as well as a regulator of cell-cycle progression. The centrosome provides structure for the cell. The centrosome is thought to have evolved only in the metazoan lineage of eukaryotic cells. Fungi and plants lack centrosomes and therefore use other structures to organize their microtubules. Although the centrosome has a key role in efficient mitosis in animal cells, it is not essential in certain fly and flatworm species.

PLK1

Serine/threonine-protein kinase PLK1, also known as polo-like kinase 1 (PLK-1) or serine/threonine-protein kinase 13 (STPK13), is an enzyme that in humans is encoded by the PLK1 gene.

CEP350 Protein-coding gene in the species Homo sapiens

Centrosome-associated protein 350 is a protein that in humans is encoded by the CEP350 gene.

STK38

Serine/threonine-protein kinase 38 is an enzyme that in humans is encoded by the STK38 gene.

Centrin 3

Centrin-3 is a protein that in humans is encoded by the CETN3 gene. It belongs to the centrin family of proteins.

PLK4 Protein-coding gene in the species Homo sapiens

Serine/threonine-protein kinase PLK4 also known as polo-like kinase 4 is an enzyme that in humans is encoded by the PLK4 gene. The Drosophila homolog is SAK, the C elegans homolog is zyg-1, and the Xenopus homolog is Plx4.

CEP250

Centrosome-associated protein CEP250 is a protein that in humans is encoded by the CEP250 gene. This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Furthermore, CEP135 is also required for the centriolar localization of CEP250.

CEP170 Protein-coding gene in the species Homo sapiens

Centrosomal protein 170kDa, also known as CEP170, is a protein that in humans is encoded by the CEP170 gene.

CCP110

Centriolar coiled-coil protein of 110 kDa also known as centrosomal protein of 110 kDa or CP110 is a protein that in humans is encoded by the CCP110 gene. It is a cell cycle-dependent CDK substrate and regulates centrosome duplication. CP110 suppresses a cilia assembly program.

Rootletin

Rootletin also known as ciliary rootlet coiled-coil protein (CROCC) is a protein that in humans is encoded by the CROCC gene. Rootletin is a component of the ciliary rootlet, and, together with CEP68 and CEP250, is required for centrosome cohesion.

CNTROB

Centrobin is a protein that in humans is encoded by the CNTROB gene. It is a centriole-associated protein that asymmetrically localizes to the daughter centriole, and is required for centriole duplication and cytokinesis.

NEDD1

Neural precursor cell expressed, developmentally down-regulated 1, also known as Nedd1, is a human gene and encodes the protein NEDD1.

CEP192

Centrosomal protein of 192 kDa, also known as Cep192, is a protein that in humans is encoded by the CEP192 gene. It is the homolog of the C. elegans and D. melanogaster gene SPD-2.

CEP164

Centrosomal protein of 164 kDa, also known as CEP164, is a protein that in humans is encoded by the CEP164 gene. Its function appears two be twofold: CEP164 is required for primary cilium formation. Furthermore, it is an important component in the response to DNA damage by UV light.

CEP76

Centrosomal protein of 76 kDa, also known as CEP76, is a protein that in humans is encoded by the CEP76 gene.

CEP152

Centrosomal protein of 152 kDa, also known as Cep152, is a protein that in humans is encoded by the CEP152 gene. It is the ortholog of the Drosophila melanogaster gene asterless (asl) and both are required for centriole duplication.

Centrosome cycle Centrioles are nine triplets microtubules

Centrosomes are the major microtubule organizing centers (MTOC) in mammalian cells. Failure of centrosome regulation can cause mistakes in chromosome segregation and is associated with aneuploidy. A centrosome is composed of two orthogonal cylindrical protein assemblies, called centrioles, which are surrounded by a protein dense amorphous cloud of pericentriolar material (PCM). The PCM is essential for nucleation and organization of microtubules. The centrosome cycle is important to ensure that daughter cells receive a centrosome after cell division. As the cell cycle progresses, the centrosome undergoes a series of morphological and functional changes. Initiation of the centrosome cycle occurs early in the cell cycle in order to have two centrosomes by the time mitosis occurs.

TUBE1

Tubulin, epsilon 1 is a protein in humans that is encoded by the TUBE1 gene. This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplication. This protein plays a central role in organization of the microtubules during centriole duplication

Pierre Gönczy Swiss-Italian cell biologist

Pierre Gönczy is a Swiss and Italian cell and developmental biologist. His research focuses on centriole biology and asymmetric cell division. He is currently professor at École Polytechnique Fédérale de Lausanne (EPFL), where he directs the Laboratory of Cell and Developmental Biology.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000156876 - Ensembl, May 2017
  2. 1 2 3 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

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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