EIF4E

The protein encoded by this gene is a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5' end of messenger RNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the 5'-cap structure. Association of this protein with the 4F complex is the rate-limiting step in translation initiation. This gene acts as a proto-oncogene, and its expression and activation is associated with transformation and tumorigenesis. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

Eukaryotic Translation Initiation Factor 4E

Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structures (PubMed:16271312, PubMed:22578813).

In addition to its role in translation initiation, also acts as a regulator of translation and stability in the cytoplasm (PubMed:24335285).

Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression: in the complex, EIF4E mediates the binding to the mRNA cap (By similarity).

Component of a multiprotein complex that sequesters and represses translation of proneurogenic factors during neurogenesis (By similarity).

In P-bodies, component of a complex that mediates the storage of translationally inactive mRNAs in the cytoplasm and prevents their degradation (PubMed:24335285).

May play an important role in spermatogenesis through translational regulation of stage-specific mRNAs during germ cell development (By similarity).

Behavioral fear response Source: Ensembl
Cellular response to dexamethasone stimulus Source: Ensembl
G1/S transition of mitotic cell cycle Source: UniProtKB
Lung development Source: Ensembl
Negative regulation of neuron differentiation Source: Ensembl
Negative regulation of translation Source: Ensembl
Positive regulation of mitotic cell cycle Source: UniProtKB
Regulation of translation Source: UniProtKB
Regulation of translation at postsynapse, modulating synaptic transmission Source: Ensembl
Stem cell population maintenance Source: Ensembl

Nucleus; Cytoplasm; P-body; Stress granule. Interaction with EIF4ENIF1/4E-T is required for localization to processing bodies (P-bodies) (PubMed:16157702, PubMed:24335285, PubMed:25923732). Imported in the nucleus via interaction with EIF4ENIF1/4E-T via a piggy-back mechanism (PubMed:10856257).

Autism 19 (AUTS19):
Disease susceptibility is associated with variants affecting the gene represented in this entry. A heterozygous single-nucleotide insertion has been found in families affected by autism. The variant results in increased promoter activity and is involved in disease pathogenesis through EIF4E deregulation (PubMed:19556253). A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. A chromosomal aberration involving EIF4E has been found in a patient with classic autism. Translocation t(45)(q23q31.3). The breakpoint on chromosome 4 is located 56 kb downstream of EIF4E (PubMed:19556253).

Phosphorylation increases the ability of the protein to bind to mRNA caps and to form the eIF4F complex.