CASC5

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Cancer susceptibility candidate 5
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CASC5 ; AF15Q14; CT29; D40; KNL1; PPP1R55; hKNL-1; hSpc105
External IDs OMIM609173 MGI1923714 HomoloGene44890 GeneCards: CASC5 Gene
Orthologs
Species Human Mouse
Entrez 57082 76464
Ensembl ENSG00000137812 ENSMUSG00000027326
UniProt Q8NG31 Q66JQ7
RefSeq (mRNA) NM_144508 NM_029617
RefSeq (protein) NP_653091 NP_083893
Location (UCSC) Chr 15:
40.89 – 40.96 Mb
Chr 2:
119.05 – 119.11 Mb
PubMed search [1] [2]

CASC5 is a protein that is encoded by the CASC5 gene in humans.[1][2][3][4]


Function[edit]

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[edit]

CASC5 has been shown to interact with MIS12,[6][7] BUB1, BUBR1 and ZWINT-1.[5]

Polymorphisms[edit]

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[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ "Entrez Gene: CASC5 cancer susceptibility candidate 5". 
  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. 
  6. ^ 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. (United States) 18 (18): 2255–68. doi:10.1101/gad.1234104. ISSN 0890-9369. PMC 517519. PMID 15371340. 
  7. ^ 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. (England) 6 (11): 1135–41. doi:10.1038/ncb1187. ISSN 1465-7392. PMID 15502821. 

Further reading[edit]