MDN1

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MDN1
Identifiers
AliasesMDN1, Rea1, midasin AAA ATPase 1
External IDsOMIM: 618200 MGI: 1926159 HomoloGene: 39689 GeneCards: MDN1
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for MDN1
Genomic location for MDN1
Band6q15Start89,642,498 bp[1]
End89,819,794 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014611

NM_001081392
NM_133874
NM_177666

RefSeq (protein)

NP_055426

n/a

Location (UCSC)Chr 6: 89.64 – 89.82 MbChr 4: 32.66 – 32.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

MDN1, midasin homolog (yeast) is a protein that in humans is encoded by the MDN1 gene.[5]

Model organisms[edit]

Model organisms have been used in the study of MDN1 function. A conditional knockout mouse line, called Mdn1tm1a(KOMP)Wtsi[10][11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty four tests were carried out on mutant mice and three significant abnormalities were observed.[8] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; females had an increased susceptibility to bacterial infection.[8]

References[edit]

  1. ^ a b c ENSG00000288121 GRCh38: Ensembl release 89: ENSG00000112159, ENSG00000288121 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058006 - 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. ^ "Entrez Gene: MDN1, midasin homolog (yeast)". Retrieved 2011-09-20.
  6. ^ "Salmonella infection data for Mdn1". Wellcome Trust Sanger Institute.
  7. ^ "Citrobacter infection data for Mdn1". Wellcome Trust Sanger Institute.
  8. ^ 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.
  9. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ^ "International Knockout Mouse Consortium".
  11. ^ "Mouse Genome Informatics".
  12. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  13. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  14. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  15. ^ 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[edit]

Garbarino, J. E.; Gibbons, I. R. (2002). "Expression and genomic analysis of midasin, a novel and highly conserved AAA protein distantly related to dynein". BMC Genomics. 3: 18. doi:10.1186/1471-2164-3-18. PMC 117441. PMID 12102729. Van De Wijngaart, D. J.; Dubbink, H. J.; Molier, M.; De Vos, C.; Trapman, J.; Jenster, G. (2009). "Functional Screening of FxxLF-Like Peptide Motifs Identifies SMARCD1/BAF60a as an Androgen Receptor Cofactor that Modulates TMPRSS2 Expression". Molecular Endocrinology. 23 (11): 1776–1786. doi:10.1210/me.2008-0280. PMC 5419170. PMID 19762545.