CASC5

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KNL1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases KNL1, AF15Q14, CT29, D40, PPP1R55, Spc7, hKNL-1, hSpc105, CASC5, MCPH4, cancer susceptibility candidate 5, kinetochore scaffold 1
External IDs MGI: 1923714 HomoloGene: 44890 GeneCards: KNL1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_144508
NM_170589

NM_029617

RefSeq (protein)

NP_653091
NP_733468

NP_083893

Location (UCSC) Chr 15: 40.59 – 40.66 Mb Chr 2: 119.05 – 119.11 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

CASC5 is a protein that is encoded by the CASC5 gene in humans.[3][4][5][6]


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.[7]

Interactions[edit]

CASC5 has been shown to interact with MIS12,[8][9] BUB1, BUBR1 and ZWINT-1.[7]

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.[7]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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 2230600Freely accessible. PMID 18045986. 
  6. ^ "Entrez Gene: CASC5 cancer susceptibility candidate 5". 
  7. ^ 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. 
  8. ^ 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 517519Freely accessible. PMID 15371340. 
  9. ^ 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. 

External links[edit]

Further reading[edit]