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.
Protein type: EC 3.6.4.13; Helicase; RNA splicing; RNA-binding; Spliceosome
Chromosomal Location of Human Ortholog: 11|11 E2
Cellular Component:  catalytic step 2 spliceosome; cytoplasm; dendrite; exon-exon junction complex; glutamatergic synapse; neuronal cell body; nucleoplasm; nucleus; postsynaptic cytosol; ribonucleoprotein complex; U2-type catalytic step 1 spliceosome
Molecular Function:  ATP binding; ATP-dependent RNA helicase activity; mRNA binding; poly(A) binding; ribonucleoprotein complex binding; RNA stem-loop binding; selenocysteine insertion sequence binding; translation regulator activity
Biological Process:  embryonic cranial skeleton morphogenesis; mRNA splicing, via spliceosome; negative regulation of excitatory postsynaptic potential; negative regulation of gene expression; 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 mRNA splicing, via spliceosome; positive regulation of transcription by RNA polymerase II; positive regulation of translation; regulation of mRNA binding; regulation of translation at postsynapse, modulating synaptic transmission
Reference #:  Q91VC3 (UniProtKB)
Alt. Names/Synonyms: 2400003O03Rik; ATP-dependent RNA helicase DDX48; ATP-dependent RNA helicase eIF4A-3; Ddx48; DEAD (Asp-Glu-Ala-Asp) box polypeptide 48; DEAD box protein 48; eIF-4A-III; eIF4A-III; Eif4a3; Eukaryotic initiation factor 4A-III; Eukaryotic translation initiation factor 4A isoform 3; eukaryotic translation initiation factor 4A, isoform 3; IF4A3; MGC6664; MGC6715; mKIAA0111; OTTMUSP00000004064
Gene Symbols: Eif4a3
Molecular weight: 46,840 Da
Basal Isoelectric point: 6.3  Predict pI for various phosphorylation states
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DDX48

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene