Rabbit Anti-EIF4A3 Recombinant Antibody (E1123) (V2LY-0425-LY1718)

EIF4A3

ATP-dependent RNA helicase (PubMed:16170325).

Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:22961380, PubMed:28502770, PubMed:28076346, PubMed:29301961).

Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs (PubMed:16209946, PubMed:16170325, PubMed:16314458, PubMed:16923391, PubMed:16931718, PubMed:19033377, PubMed:20479275).

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 (PubMed:22203037).

Involved in craniofacial development (PubMed:24360810).

Associative learning Source: Ensembl
Cellular response to brain-derived neurotrophic factor stimulus Source: Ensembl
Cellular response to selenite ion Source: Ensembl
Embryonic cranial skeleton morphogenesis Source: UniProtKB
Exploration behavior Source: Ensembl
mRNA splicing, via spliceosome Source: UniProtKB
mRNA transport Source: UniProtKB-KW
Negative regulation of excitatory postsynaptic potential Source: Ensembl
Negative regulation of selenocysteine incorporation Source: Ensembl
Negative regulation of selenocysteine insertion sequence binding Source: Ensembl
Negative regulation of translation Source: HGNC-UCL
Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Source: UniProtKB
Positive regulation of translation Source: UniProtKB
Regulation of translation at postsynapse, modulating synaptic transmission Source: Ensembl
Response to organic cyclic compound Source: Ensembl
rRNA processing Source: UniProtKB-KW

Nucleus; Nucleus speckle; Cytoplasm. Nucleocytoplasmic shuttling protein. Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. Detected in dendritic layer as well as the nuclear and cytoplasmic (somatic) compartments of neurons. Colocalizes with STAU1 and FMR1 in dendrites (By similarity).

Richieri-Costa-Pereira syndrome (RCPS):
The disease is caused by variants affecting the gene represented in this entry. EIF4A3 mutations resulting in Richieri-Costa-Pereira syndrome include a repeat expansion of 18 or 20 nucleotides in the 5' untranslated region. Affected individuals have 14 to 16 repeats, while healthy individuals have 3 to 12 repeats (PubMed:24360810). A syndrome characterized by a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding.