KNL1
| KNL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| External IDs | GeneCards: [1]; OMA:- orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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CASC5 is a protein that is encoded by the CASC5 gene in humans.[1][2][3][4] Template:PBB Summary
Function
CASC5 is part of the kinetochore. It is involved in microtubule attachment to chromosome centromeres and in the activation of the spindle checkpoint during mitosis. The CASC5 gene is upregulated in the areas of cell proliferation surrounding the ventricles during fetal brain development.[5]
Interactions
CASC5 has been shown to interact with MIS12,[6][7] BUB1, BUBR1 and ZWINT-1.[5]
Polymorphisms
Homozygous polymorphisms in the CASC5 gene have been seen in patients with autosomal recessive primary microcephaly (MCPH). The mutation resulted in the skipping of exon 18 transcription, causing a frameshift and the production of a truncated protein. This truncation inhibits the binding ability of MIS12.[5]
References
- ^ Hayette S, Tigaud I, Vanier A, Martel S, Corbo L, Charrin C, Beillard E, Deleage G, Magaud JP, Rimokh R (Oct 2000). "AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14)". Oncogene. 19 (38): 4446–50. doi:10.1038/sj.onc.1203789. PMID 10980622.
- ^ Wei G, Takimoto M, Yoshida I, Mao PZ, Koya RC, Miura T, Kuzumaki N (Jun 2000). "Chromosomal assignment of a novel human gene D40". Nucleic Acids Symp Ser (42): 71–2. PMID 10780384.
- ^ Cheeseman IM, Hori T, Fukagawa T, Desai A (Feb 2008). "KNL1 and the CENP-H/I/K complex coordinately direct kinetochore assembly in vertebrates". Mol Biol Cell. 19 (2): 587–94. doi:10.1091/mbc.E07-10-1051. PMC 2230600. PMID 18045986.
- ^ "Entrez Gene: CASC5 cancer susceptibility candidate 5".
- ^ a b c Genin A; et al. (Dec 2012). "Kinetochore KMN network gene CASC5 mutated in primary microcephaly". Hum Mol Genet. 21 (24): 5306–17. doi:10.1093/hmg/dds386.
- ^ Cheeseman, Iain M; Niessen Sherry; Anderson Scott; Hyndman Francie; Yates John R; Oegema Karen; Desai Arshad (Sep 2004). "A conserved protein network controls assembly of the outer kinetochore and its ability to sustain tension". Genes Dev. 18 (18). United States: 2255–68. doi:10.1101/gad.1234104. ISSN 0890-9369. PMC 517519. PMID 15371340.
{{cite journal}}: Cite has empty unknown parameters:|laydate=,|laysource=, and|laysummary=(help) - ^ Obuse, Chikashi; Iwasaki Osamu; Kiyomitsu Tomomi; Goshima Gohta; Toyoda Yusuke; Yanagida Mitsuhiro (Nov 2004). "A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1". Nat. Cell Biol. 6 (11). England: 1135–41. doi:10.1038/ncb1187. ISSN 1465-7392. PMID 15502821.
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Further reading
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