Open main menu

MIS18 binding protein 1 is a protein that in humans is encoded by the MIS18BP1 gene.[5][6][7] The gene is also known as LKNL2, M18BP1, C14orf106, and HSA242977.[5]

Protein C14orf106 PDB 1wgx.png
Available structures
PDBOrtholog search: PDBe RCSB
AliasesMIS18BP1, C14orf106, HSA242977, KNL2, M18BP1, MIS18 binding protein 1
External IDsOMIM: 618139 MGI: 2145099 HomoloGene: 10147 GeneCards: MIS18BP1
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for MIS18BP1
Genomic location for MIS18BP1
Band14q21.2Start45,203,190 bp[1]
End45,253,540 bp[1]
RNA expression pattern
PBB GE C14orf106 gnf1h01790 s at fs.png

PBB GE C14orf106 206500 s at fs.png
More reference expression data
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 14: 45.2 – 45.25 MbChr 12: 65.13 – 65.17 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

Model organismsEdit

Model organisms have been used in the study of MIS18BP1 function. A conditional knockout mouse line, called Mis18bp1tm1a(EUCOMM)Wtsi[13] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[11][17] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.[11] Few homozygous mutant embryos were identified during gestation, and none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and an abnormal tail morphology was observed in female animals.[11]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000129534 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047534 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "MIS18 binding protein 1". Retrieved 2011-12-04.
  6. ^ Maddox PS, Hyndman F, Monen J, Oegema K, Desai A (Mar 2007). "Functional genomics identifies a Myb domain-containing protein family required for assembly of CENP-A chromatin". J Cell Biol. 176 (6): 757–63. doi:10.1083/jcb.200701065. PMC 2064049. PMID 17339379.
  7. ^ Fujita Y, Hayashi T, Kiyomitsu T, Toyoda Y, Kokubu A, Obuse C, Yanagida M (Jan 2007). "Priming of centromere for CENP-A recruitment by human hMis18alpha, hMis18beta, and M18BP1". Dev Cell. 12 (1): 17–30. doi:10.1016/j.devcel.2006.11.002. PMID 17199038.
  8. ^ "Dysmorphology data for Mis18bp1". Wellcome Trust Sanger Institute.
  9. ^ "Salmonella infection data for Mis18bp1". Wellcome Trust Sanger Institute.
  10. ^ "Citrobacter infection data for Mis18bp1". Wellcome Trust Sanger Institute.
  11. ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  12. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  13. ^ "International Knockout Mouse Consortium".
  14. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  15. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  16. ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  17. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further readingEdit