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KNL1

KNL1
Identifiers
Aliases
External IDsGeneCards: [1]; OMA:- orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

KNL1 (kinetochore scaffold 1, aka CASC5) is a protein that is encoded by the KNL1 gene in humans.[1][2][3][4]

Function

KNL1 is part of the outer kinetochore. It is a part of KMN network of proteins together with MIS12, and NDC80.[5]

KNL1 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.[6]

Interactions

CASC5 has been shown to interact with MIS12,[7][8] BUB1, BUBR1 and ZWINT-1.[6]

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.[6]

References

  1. ^ "Entrez Gene: CASC5 cancer susceptibility candidate 5".
  2. ^ Hayette S, Tigaud I, Vanier A, Martel S, Corbo L, Charrin C, Beillard E, Deleage G, Magaud JP, Rimokh R (September 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. S2CID 8540747.
  3. ^ 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 Symposium Series. 42 (42): 71–2. doi:10.1093/nass/42.1.71. PMID 10780384.
  4. ^ Cheeseman IM, Hori T, Fukagawa T, Desai A (February 2008). "KNL1 and the CENP-H/I/K complex coordinately direct kinetochore assembly in vertebrates". Molecular Biology of the Cell. 19 (2): 587–94. doi:10.1091/mbc.E07-10-1051. PMC 2230600. PMID 18045986.
  5. ^ D'Archivio S, Wickstead B (February 2017). "Trypanosome outer kinetochore proteins suggest conservation of chromosome segregation machinery across eukaryotes". The Journal of Cell Biology. 216 (2): 379–391. doi:10.1083/jcb.201608043. PMC 5294786. PMID 28034897.
  6. ^ a b c Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M (December 2012). "Kinetochore KMN network gene CASC5 mutated in primary microcephaly". Human Molecular Genetics. 21 (24): 5306–17. doi:10.1093/hmg/dds386. PMID 22983954.
  7. ^ Cheeseman IM, Niessen S, Anderson S, Hyndman F, Yates JR, Oegema K, Desai A (September 2004). "A conserved protein network controls assembly of the outer kinetochore and its ability to sustain tension". Genes & Development. 18 (18): 2255–68. doi:10.1101/gad.1234104. PMC 517519. PMID 15371340.
  8. ^ Obuse C, Iwasaki O, Kiyomitsu T, Goshima G, Toyoda Y, Yanagida M (November 2004). "A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1". Nature Cell Biology. 6 (11): 1135–41. doi:10.1038/ncb1187. PMID 15502821. S2CID 39408000.

Further reading