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Protein Page:
DDX48 (human)

DDX48 ATP-dependent RNA helicase. Component of a splicing- dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Core components of the EJC, that remains bound to spliced mRNAs throughout all stages of mRNA metabolism, functions to mark the position of the exon-exon junction in the mature mRNA and thereby influences downstream processes of gene expression including mRNA splicing, nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Constitutes at least part of the platform anchoring other EJC proteins to spliced mRNAs. 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. Belongs to the DEAD box helicase family. eIF4A subfamily. Note: This description may include information from UniProtKB.
Protein type: EC; Helicase; RNA splicing; RNA-binding; Spliceosome
Chromosomal Location of Human Ortholog: 17q25.3
Cellular Component: cytoplasm; cytosol; membrane; nucleoplasm
Molecular Function: ATP binding; ATP-dependent RNA helicase activity; mRNA binding; poly(A) binding; protein binding
Biological Process: embryonic cranial skeleton morphogenesis; mRNA 3'-end processing; mRNA catabolic process, nonsense-mediated decay; mRNA export from nucleus; negative regulation of translation; nuclear mRNA splicing, via spliceosome; poly(A) tail shortening; positive regulation of translation; RNA export from nucleus; RNA secondary structure unwinding; RNA splicing; termination of RNA polymerase II transcription
Disease: Robin Sequence With Cleft Mandible And Limb Anomalies
Reference #:  P38919 (UniProtKB)
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-like NUK-34; Eukaryotic translation initiation factor 4A isoform 3; eukaryotic translation initiation factor 4A, isoform 3; eukaryotic translation initiation factor 4A3; hNMP 265; IF4A3; KIAA0111; MGC10862; NMP 265; NMP265; Nuclear matrix protein 265; NUK34
Gene Symbols: EIF4A3
Molecular weight: 46,871 Da
Basal Isoelectric point: 6.3  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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