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DDX48
ATP-dependent RNA helicase. Involved in pre-mRNA splicing as component of the spliceosome. Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Its RNA-dependent ATPase and RNA-helicase activities are induced by CASC3, but abolished in presence of the MAGOH-RBM8A heterodimer, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The inhibition of ATPase activity by the MAGOH-RBM8A heterodimer increases the RNA-binding affinity of the EJC. Involved in translational enhancement of spliced mRNAs after formation of the 80S ribosome complex. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Shows higher affinity for single-stranded RNA in an ATP-bound core EJC complex than after the ATP is hydrolyzed. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly. Involved in craniofacial development. Belongs to the DEAD box helicase family. eIF4A subfamily. Ubiquitously expressed. Note: This description may include information from UniProtKB.
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| Protein type: EC 3.6.4.13; Helicase; RNA splicing; RNA-binding; Spliceosome |
| Chromosomal Location of human Ortholog: 17q25.3 |
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Cellular Component:
catalytic step 2 spliceosome; cytoplasm; cytosol; dendrite; exon-exon junction complex; glutamatergic synapse; neuronal cell body; nuclear speck; nucleolus; nucleoplasm; nucleus; postsynapse; U2-type catalytic step 1 spliceosome
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Molecular Function:
ATP binding; ATP hydrolysis activity; mRNA binding; poly(A) binding; protein binding; ribonucleoprotein complex binding; RNA helicase activity; RNA stem-loop binding; selenocysteine insertion sequence binding
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Biological Process:
associative learning; cellular response to brain-derived neurotrophic factor stimulus; cellular response to selenite ion; embryonic cranial skeleton morphogenesis; exploration behavior; mRNA export from nucleus; mRNA splicing, via spliceosome; negative regulation of excitatory postsynaptic potential; negative regulation of selenocysteine incorporation; negative regulation of selenocysteine insertion sequence binding; negative regulation of translation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; positive regulation of translation; regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; regulation of translation at postsynapse, modulating synaptic transmission; response to organic cyclic compound; rRNA processing
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Disease: Robin Sequence With Cleft Mandible And Limb Anomalies
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Reference #:
P38919
(UniProtKB)
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Alt. Names/Synonyms: ATP-dependent RNA helicase DDX48; ATP-dependent RNA helicase eIF4A-3; DDX48; DEAD (Asp-Glu-Ala-Asp) box polypeptide 48; DEAD box protein 48; DKFZp686O16189; eIF-4A-III; eIF4A-III; EIF4A3; eIF4AIII; Eukaryotic initiation factor 4A-III; Eukaryotic initiation factor 4A-III, N-terminally processed; Eukaryotic initiation factor 4A-like NUK-34; Eukaryotic translation initiation factor 4A isoform 3; eukaryotic translation initiation factor 4A, isoform 3; eukaryotic translation initiation factor 4A3; Fal1; hNMP 265; IF4A3; KIAA0111; MGC10862; MUK34; NMP 265; NMP265; Nuclear matrix protein 265; NUK34; RCPS
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Gene Symbols: EIF4A3
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Molecular weight:
46,871 Da
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Basal Isoelectric point:
6.3
Predict pI for various phosphorylation states
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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