DDX46

DDX46
Identifiers
Aliases	DDX46 , PRPF5, Prp5, DEAD-box helicase 46
External IDs	OMIM: 617848 MGI: 1920895 HomoloGene: 5430 GeneCards: DDX46
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.1 Start 134,758,771 bp [1] End 134,855,133 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13|13 B1 Start 55,635,027 bp [2] End 55,681,256 bp [2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • nucleotide binding • hydrolase activity • ATP binding • GO:0008026 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: 55.64 – 55.68 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Probable ATP-dependent RNA helicase DDX46 is an enzyme that in humans is encoded by the DDX46 gene. ^[5]

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. ^[5]

Interactions

DDX46 has been shown to interact with SF3A2. ^[6]

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. 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. 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.