MIS18BP1

MIS18BP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WGX
Identifiers
Aliases	MIS18BP1 , C14orf106, HSA242977, KNL2, M18BP1, MIS18 binding protein 1
External IDs	OMIM: 618139 MGI: 2145099 HomoloGene: 10147 GeneCards: MIS18BP1
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q21.2 Start 45,203,190 bp [1] End 45,253,540 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12|12 C1 Start 65,179,508 bp [2] End 65,219,378 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte ganglionic eminence Achilles tendon rectum right lung bone marrow minor salivary gland lymph node spleen sural nerve Top expressed in abdominal wall medial ganglionic eminence primitive streak maxillary prominence renal corpuscle oocyte secondary oocyte cumulus cell hand blastocyst More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component chromosome chromosome, centromeric region nucleus nucleoplasm Biological process cell division cell cycle CENP-A containing chromatin assembly regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55320 217653 Ensembl ENSG00000129534 ENSMUSG00000047534 UniProt Q6P0N0 Q80WQ8 RefSeq (mRNA) NM_018353 NM_172578 RefSeq (protein) NP_060823 NP_766166 Location (UCSC) Chr 14: 45.2 – 45.25 Mb Chr 12: 65.18 – 65.22 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Model organisms

Mis18bp1 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Abnormal [8]
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella 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 Mis18bp1^{tm1a(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

1. GRCh38: Ensembl release 89: ENSG00000129534 - Ensembl, May 2017
2. 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. "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. 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.
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. S2CID   18872015.
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 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. PMC   2064049 . 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 . PMC   1459365 . PMID   16565220.