MIS18 binding protein 1 is a protein that in humans is encoded by the MIS18BP1gene.[5][6][7] The gene is also known as LKNL2, M18BP1, C14orf106, and HSA242977.[5]
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 homozygousmutant 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]
References
^ abcGRCh38: Ensembl release 89: ENSG00000129534 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000047534 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ab"MIS18 binding protein 1". Retrieved 2011-12-04.
^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. PMC2064049. PMID 17339379.
^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.
^"Dysmorphology data for Mis18bp1". Wellcome Trust Sanger Institute.
^"Salmonella infection data for Mis18bp1". Wellcome Trust Sanger Institute.
^"Citrobacter infection data for Mis18bp1". Wellcome Trust Sanger Institute.
^ abcdGerdin 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. S2CID 85911512.
^Mouse Resources Portal, Wellcome Trust Sanger Institute.
^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. PMC3572410. PMID 21677750.
^Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^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. S2CID 18872015.
^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. PMC3218837. PMID 21722353.
Further reading
Fujita Y, Hayashi T, Kiyomitsu T, Toyoda Y, Kokubu A, Obuse C, Yanagida M (January 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.
Maddox PS, Hyndman F, Monen J, Oegema K, Desai A (March 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. PMC2064049. PMID 17339379.
Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (April 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. PMC1459365. PMID 16565220.
This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.
mis18bp1, mis18, binding, protein, protein, that, humans, encoded, gene, gene, also, known, lknl2, m18bp1, c14orf106, hsa242977, available, structurespdbortholog, search, pdbe, rcsblist, codes1wgxidentifiersaliases, c14orf106, hsa242977, knl2, m18bp1, mis18, b. 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 MIS18BP1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1WGXIdentifiersAliasesMIS18BP1 C14orf106 HSA242977 KNL2 M18BP1 MIS18 binding protein 1External IDsOMIM 618139 MGI 2145099 HomoloGene 10147 GeneCards MIS18BP1Gene location Human Chr Chromosome 14 human 1 Band14q21 2Start45 203 190 bp 1 End45 253 540 bp 1 Gene location Mouse Chr Chromosome 12 mouse 2 Band12 12 C1Start65 179 508 bp 2 End65 219 378 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inmonocyteganglionic eminenceAchilles tendonrectumright lungbone marrowminor salivary glandlymph nodespleensural nerveTop expressed inabdominal wallmedial ganglionic eminenceprimitive streakmaxillary prominencerenal corpuscleoocytesecondary oocytecumulus cellhandblastocystMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding protein binding DNA binding transcription factor activity RNA polymerase II specificCellular componentchromosome chromosome centromeric region nucleus nucleoplasmBiological processcell division cell cycle CENP A containing chromatin assembly regulation of transcription by RNA polymerase IISources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez55320217653EnsemblENSG00000129534ENSMUSG00000047534UniProtQ6P0N0Q80WQ8RefSeq mRNA NM 018353NM 172578RefSeq protein NP 060823NP 766166Location UCSC Chr 14 45 2 45 25 MbChr 12 65 18 65 22 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseModel organisms EditMis18bp1 knockout mouse phenotype Characteristic PhenotypeHomozygote viability AbnormalRecessive lethal study AbnormalFertility NormalBody weight NormalAnxiety NormalNeurological assessment NormalGrip strength NormalHot plate NormalDysmorphology Abnormal 8 Indirect calorimetry NormalGlucose tolerance test NormalAuditory brainstem response NormalDEXA NormalRadiography NormalBody temperature NormalEye morphology NormalClinical chemistry NormalPlasma immunoglobulins NormalHaematology NormalMicronucleus test NormalHeart weight NormalSkin Histopathology NormalBrain histopathology NormalSalmonella infection Normal 9 Citrobacter infection Normal 10 All tests and analysis from 11 12 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 References Edit a b c GRCh38 Ensembl release 89 ENSG00000129534 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000047534 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b MIS18 binding protein 1 Retrieved 2011 12 04 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 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 Dysmorphology data for Mis18bp1 Wellcome Trust Sanger Institute Salmonella infection data for Mis18bp1 Wellcome Trust Sanger Institute Citrobacter infection data for Mis18bp1 Wellcome Trust Sanger Institute 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 S2CID 85911512 Mouse Resources Portal Wellcome Trust Sanger Institute International Knockout Mouse Consortium 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 Dolgin E 2011 Mouse library set to be knockout Nature 474 7351 262 3 doi 10 1038 474262a PMID 21677718 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 S2CID 18872015 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 reading EditFujita Y Hayashi T Kiyomitsu T Toyoda Y Kokubu A Obuse C Yanagida M January 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 Maddox PS Hyndman F Monen J Oegema K Desai A March 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 Nousiainen M Sillje HH Sauer G Nigg EA Korner R April 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 This article on a gene on human chromosome 14 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title MIS18BP1 amp oldid 1043225230, wikipedia, wiki, book, books, library,
