DDX42

DDX42
Identifiers
Aliases	DDX42, DDX42P, RHELP, RNAHP, SF3B8, SF3b125, DEAD-box helicase 42
External IDs	OMIM: 613369 MGI: 1919297 HomoloGene: 49137 GeneCards: DDX42
Gene location (Human)
Chr.	Chromosome 17 (human)[1]
End	63,819,317 bp[1]
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)[2]
End	106,249,139 bp[2]
RNA expression pattern
	Top expressed in
	body of pancreas; ; right uterine tube; ; gastric mucosa; ; Achilles tendon; ; canal of the cervix; ; sural nerve; ; minor salivary gland; ; gallbladder; ; rectum; ; left uterine tube;
	Top expressed in
	neural tube; ; mirror; ; superior frontal gyrus; ; yolk sac; ; thymus; ; primitive streak; ; ganglionic eminence; ; cumulus cell; ; cerebellar cortex; ; submandibular gland;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; protein binding; hydrolase activity; ATP binding; helicase activity; nucleic acid binding; RNA binding;
Cellular component	cytoplasm; Cajal body; membrane; nucleus; nucleoplasm; cytosol; nuclear speck; nucleolus;
Biological process	protein localization; RNA secondary structure unwinding; mRNA splicing, via spliceosome; regulation of apoptotic process;
	Sources:Amigo / QuickGO
Orthologs
	11325
	72047
	ENSG00000198231
	ENSMUSG00000020705
	Q86XP3
	Q810A7
	NM_007372; NM_203499
	NM_028074
	NP_031398; NP_987095
	NP_082350; NP_001348569; NP_001348571; NP_001348572; NP_001348573
	Wikidata
View/Edit Human	View/Edit Mouse

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 Ddx42^{tm1b(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute.[8] Male and female animals underwent a standardized phenotypic screen[9] to determine the effects of deletion.[10][11][12][13] Additional screens performed: - In-depth immunological phenotyping[14]

*Ddx42* knockout mouse phenotype
Characteristic	Phenotype
All data available at.[9][14]
Peripheral blood leukocytes 6 Weeks	Normal
Insulin	Normal
Haematology 6 Weeks	Normal
Homozygous viability at P14	Abnormal
Recessive lethal study	Abnormal
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 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal

References

GRCh38: Ensembl release 89: ENSG00000198231 - Ensembl, May 2017
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.
"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.
"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.
"Infection and Immunity Immunophenotyping (3i) Consortium".

DDX42

Function

Interactions

Model organisms

References

Further reading