ATP-dependent RNA helicase DDX42 is an enzyme that in humans is encoded by the DDX42 gene .[5] [6]
Function [ ] This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and 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. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene.[6]
Interactions [ ] DDX42 has been shown to interact with SF3B1 .[7]
Model organisms [ ] Model organisms have been used in the study of DDX42 function. A conditional knockout mouse line called Ddx42tm1b(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute .[8] phenotypic screen [9] [10] [11] [12] [13] [14]
Ddx42 knockout mouse phenotype
Characteristic
Phenotype
All data available at.[9] [14]
Peripheral blood leukocytes 6 Weeks
Normal
Insulin
Normal
Haematology Normal
Homozygous viability at P14
Abnormal
Recessive lethal studyAbnormal
Body weight
Normal
Neurological assessment
Normal
Grip strength
Normal
Dysmorphology Normal
Indirect calorimetry Normal
Glucose tolerance test Normal
Auditory brainstem response Normal
DEXA Normal
Radiography Normal
Eye morphology
Normal
Clinical chemistry Normal
Haematology Normal
Peripheral blood leukocytes 16 Weeks
Normal
Heart weight
Normal
Salmonella Normal
Cytotoxic T Cell Function
Normal
Spleen Immunophenotyping
Normal
Mesenteric Lymph Node Immunophenotyping
Normal
Bone Marrow Immunophenotyping
Normal
Epidermal Immune Composition
Normal
References [ ]
^ a b c GRCh38: Ensembl release 89: ENSG00000198231 - Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020705 - 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 .^ Suk K, Kim S, Kim YH, Oh SH, Lee MK, Kim KW, Kim HD, Seo YS (Apr 2000). "Identification of a novel human member of the DEAD box protein family" . Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease . 1501 (1): 63–9. doi :10.1016/S0925-4439(00)00010-7 PMID 10727850 . ^ a b "Entrez Gene: DDX42 DEAD (Asp-Glu-Ala-Asp) box polypeptide 42" .^ Will CL, Urlaub H, Achsel T, Gentzel M, Wilm M, Lührmann R (Sep 2002). "Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein" . The EMBO Journal . 21 (18): 4978–88. doi :10.1093/emboj/cdf480 . PMC 126279 PMID 12234937 . ^ 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 . ^ a b "International Mouse Phenotyping 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 (Jun 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 (Jun 2011). "Mouse library set to be knockout" . Nature . 474 (7351): 262–3. doi :10.1038/474262a PMID 21677718 . ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons" . Cell . 128 (1): 9–13. doi :10.1016/j.cell.2006.12.018 PMID 17218247 . S2CID 18872015 . ^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes" . Cell . 154 (2): 452–64. doi :10.1016/j.cell.2013.06.022 . PMC 3717207 PMID 23870131 . ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium" .
Further reading [ ]
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks" . Cell . 127 (3): 635–48. doi :10.1016/j.cell.2006.09.026 PMID 17081983 . S2CID 7827573 . Uhlmann-Schiffler H, Jalal C, Stahl H (2006). "Ddx42p--a human DEAD box protein with RNA chaperone activities" . Nucleic Acids Research . 34 (1): 10–22. doi :10.1093/nar/gkj403 . PMC 1325199 PMID 16397294 . Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP (Nov 2004). "Phosphoproteomic analysis of the developing mouse brain" . Molecular & Cellular Proteomics . 3 (11): 1093–101. doi :10.1074/mcp.M400085-MCP200 PMID 15345747 . Will CL, Urlaub H, Achsel T, Gentzel M, Wilm M, Lührmann R (Sep 2002). "Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein" . The EMBO Journal . 21 (18): 4978–88. doi :10.1093/emboj/cdf480 . PMC 126279 PMID 12234937 .
