RBCC Red Blood Cell Collection

IF4E_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: EIF4E , EIF4EL1, EIF4F
Protein names and data: IF4E_HUMAN , Eukaryotic translation initiation factor 4E; eIF-4E; eIF4E , eIF-4F 25 kDa subunit; mRNA cap-binding protein Lenght: 217 a.a.
Mass: 25097 Da
fasta formatted sequence
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.
Disease: ( OMIM: 133440 615091 ) 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. 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). 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).
Cellular location: Cytoplasm, P-body.

Database cross-references

UniProt: P06730
Ensembl: ENST00000280892
Ensembl: ENST00000450253
Ensembl: ENST00000505992
MIM: 133440
MIM: 615091
neXtProt: NX_P06730
Antibodypedia: P06730 (may not find the protein thus also not any antibody)
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