InnateDB Protein
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IDBP-374716.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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EIF4E
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Protein Name
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eukaryotic translation initiation factor 4E
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Synonyms
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AUTS19; CBP; EIF4E1; EIF4EL1; EIF4F;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000389624
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InnateDB Gene
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IDBG-30970 (EIF4E)
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Protein Structure
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Function |
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. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates the binding to the mRNA cap. {ECO:0000269PubMed:16271312, ECO:0000269PubMed:22578813}.
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Subcellular Localization |
Cytoplasm, P-body {ECO:0000269PubMed:20616046}. Cytoplasm {ECO:0000250}.
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Disease Associations |
Autism 19 (AUTS19) [MIM:615091]: 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. {ECO:0000269PubMed:19556253}. Note=Disease susceptibility is associated with variations 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). {ECO:0000269PubMed:19556253}.Note=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). {ECO:0000269PubMed:19556253}.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 96 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
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Predicted by orthology |
Total |
14 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001040
Translation Initiation factor eIF- 4e
IPR023398
Translation Initiation factor eIF- 4e-like domain
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PFAM |
PF01652
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P06730
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PhosphoSite |
PhosphoSite-P06730
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TrEMBL |
D6RFJ3
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UniProt Splice Variant |
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Entrez Gene |
1977
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UniGene |
Hs.596163
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RefSeq |
NP_001959
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HUGO |
HGNC:3287
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OMIM |
133440
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CCDS |
CCDS34031
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HPRD |
00591
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IMGT |
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EMBL |
AC019131
AC093836
AK300982
BC012611
BC035166
BC043226
BM849222
M15353
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GenPept |
AAC13647
AAH12611
AAH35166
AAH43226
BAH13387
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