KNL1

KNL1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKNL1, AF15Q14, CT29, D40, PPP1R55, Spc7, hKNL-1, hSpc105, CASC5, MCPH4, cancer susceptibility candidate 5, kinetochore scaffold 1
External IDsMGI: 1923714 HomoloGene: 44890 GeneCards: KNL1
Gene location (Human)
Chr.Chromosome 15 (human)[1]
Band15q15.1Start40,594,020 bp[1]
End40,664,342 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

57082

76464

Ensembl

ENSG00000137812

ENSMUSG00000027326

UniProt

Q8NG31

Q66JQ7

RefSeq (mRNA)

NM_144508
NM_170589

NM_029617
NM_001362732

RefSeq (protein)

NP_653091
NP_733468

NP_083893
NP_001349661

Location (UCSC)Chr 15: 40.59 – 40.66 MbChr 2: 119.05 – 119.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

KNL1 (kinetochore scaffold 1, aka CASC5) is a protein that is encoded by the KNL1 gene in humans.[5][6][7][8]

Function

KNL1 is part of the outer kinetochore. It is a part of KMN network of proteins together with MIS12, and NDC80.[9]

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.[10]

Interactions

CASC5 has been shown to interact with MIS12,[11][12] BUB1, BUBR1 and ZWINT-1.[10]

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.[10]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000137812 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027326 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Entrez Gene: CASC5 cancer susceptibility candidate 5".
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ D’Archivio, Simon; Wickstead, Bill (2017-02-01). "Trypanosome outer kinetochore proteins suggest conservation of chromosome segregation machinery across eukaryotes". J Cell Biol. 216 (2): 379–391. doi:10.1083/jcb.201608043. ISSN 0021-9525. PMID 28034897.
  10. 1 2 3 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.
  11. ↑ 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.
  12. ↑ 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

  • Ray ME, Su YA, Meltzer PS, Trent JM (1996). "Isolation and characterization of genes associated with chromosome-6 mediated tumor suppression in human malignant melanoma". Oncogene. 12 (12): 2527–33. PMID 8700511.
  • Nagase T, Kikuno R, Nakayama M, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81. doi:10.1093/dnares/7.4.271. PMID 10997877.
  • Takimoto M, Wei G, Dosaka-Akita H, et al. (2002). "Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancers of smokers". Br. J. Cancer. 86 (11): 1757–62. doi:10.1038/sj.bjc.6600328. PMC 2375411. PMID 12087463.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Chinwalla V, Chien A, Odero M, et al. (2003). "A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15". Oncogene. 22 (9): 1400–10. doi:10.1038/sj.onc.1206273. PMID 12618766.
  • Kuefer MU, Chinwalla V, Zeleznik-Le NJ, et al. (2003). "Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14)". Oncogene. 22 (9): 1418–24. doi:10.1038/sj.onc.1206272. PMID 12618768.
  • Cheeseman IM, Niessen S, Anderson S, et al. (2004). "A conserved protein network controls assembly of the outer kinetochore and its ability to sustain tension". Genes Dev. 18 (18): 2255–68. doi:10.1101/gad.1234104. PMC 517519. PMID 15371340.
  • Obuse C, Iwasaki O, Kiyomitsu T, et al. (2004). "A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1". Nat. Cell Biol. 6 (11): 1135–41. doi:10.1038/ncb1187. PMID 15502821.
  • Sasao T, Itoh N, Takano H, et al. (2005). "The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa". Reproduction. 128 (6): 709–16. doi:10.1530/rep.1.00312. PMID 15579588.
  • Nousiainen M, Silljé HH, Sauer G, et al. (2006). "Phosphoproteome analysis of the human mitotic spindle". Proc. Natl. Acad. Sci. U.S.A. 103 (14): 5391–6. Bibcode:2006PNAS..103.5391N. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.


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