DDX27

From Wikipedia, the free encyclopedia
DDX27
Identifiers
AliasesDDX27, DRS1, Drs1p, PP3241, RHLP, dJ686N3.1, HSPC259, DEAD-box helicase 27
External IDsOMIM: 616621 MGI: 2385884 HomoloGene: 6431 GeneCards: DDX27
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017895
NM_001348187

NM_153065

RefSeq (protein)

NP_060365
NP_001335116

NP_694705

Location (UCSC)Chr 20: 49.22 – 49.24 MbChr 2: 166.86 – 166.88 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

DEAD (Asp-Glu-Ala-Asp) box polypeptide 27, also known as DDX27, is a human gene.[5]

The protein encoded by this gene belongs to the family of DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, the function of which has not been determined.[5]

Model organisms[]

Model organisms have been used in the study of DDX27 function. A conditional knockout mouse line, called Ddx27tm1a(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 seven tests were carried out and two phenotypes were reported. No homozygous mutant embryos were identified during gestation, and in a separate study only 1% survived until weaning (significantly less than the Mendelian ratio). The remaining tests were carried out on heterozygous mutant adult mice; no significant abnormalities were observed in these animals.[8]

References[]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000124228 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000017999 - 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 "Entrez Gene: DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27".
  6. ^ "Salmonella infection data for Ddx27". Wellcome Trust Sanger Institute.
  7. ^ "Citrobacter infection data for Ddx27". Wellcome Trust Sanger Institute.
  8. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  9. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ^ "International Knockout Mouse Consortium". Archived from the original on 2012-03-20. Retrieved 2012-01-05.
  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 (June 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 (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  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[]


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