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DDX46
Identifiers
Aliases	DDX46, PRPF5, Prp5, DEAD-box helicase 46
External IDs	OMIM: 617848; MGI: 1920895; HomoloGene: 5430; GeneCards: DDX46; OMA:DDX46 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5q31.1 Start 134,758,771 bp End 134,855,133 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13|13 B1 Start 55,782,840 bp End 55,829,069 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve glutes tibia monocyte tonsil trabecular bone endometrium visceral pleura triceps brachii muscle epithelium of nasopharynx Top expressed in tail of embryo genital tubercle Paneth cell ventricular zone neural layer of retina spermatocyte vestibular membrane of cochlear duct ascending aorta aortic valve primitive streak More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding hydrolase activity ATP binding helicase activity nucleic acid binding RNA binding Cellular component Cajal body membrane nucleus fibrillar center nucleoplasm nuclear speck nucleolus cytoplasm Biological process regulation of gene expression mRNA processing RNA secondary structure unwinding RNA splicing mRNA splicing, via spliceosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9879 212880 Ensembl ENSG00000145833 ENSMUSG00000021500 UniProt Q7L014 Q569Z5 RefSeq (mRNA) NM_001300860 NM_014829 NM_001282055 NM_145975 RefSeq (protein) NP_001287789 NP_055644 NP_001268984 Location (UCSC) Chr 5: 134.76 – 134.86 Mb Chr 13: 55.78 – 55.83 Mb PubMed search
Wikidata
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Probable ATP-dependent RNA helicase DDX46 is an enzyme that in humans is encoded by the DDX46 gene.

Function

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), 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. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing.

Interactions

DDX46 has been shown to interact with SF3A2.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000145833 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000021500 – 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: DDX46 DEAD (Asp-Glu-Ala-Asp) box polypeptide 46".
6. 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". EMBO J. 21 (18): 4978–88. doi:10.1093/emboj/cdf480. PMC 126279. PMID 12234937.

Further reading

• Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (1998). "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 5 (5): 277–86. doi:10.1093/dnares/5.5.277. PMID 9872452.
• Will CL, Urlaub H, Achsel T, Gentzel M, Wilm M, Lührmann R (2002). "Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein". EMBO J. 21 (18): 4978–88. doi:10.1093/emboj/cdf480. PMC 126279. PMID 12234937.
• Xu YZ, Newnham CM, Kameoka S, Huang T, Konarska MM, Query CC (2004). "Prp5 bridges U1 and U2 snRNPs and enables stable U2 snRNP association with intron RNA". EMBO J. 23 (2): 376–85. doi:10.1038/sj.emboj.7600050. PMC 1271757. PMID 14713954.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (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.

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