EIF4EBP1
eukaryotic translation initiation factor 4E binding protein 1
Summary
This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9692998 | 8:37,886,110 | C/A | — | — |
| rs3750243 | 8:37,888,017 | C/G | regulatory region variant | — |
| rs990926340 | 8:37,888,128 | C/T | — | uncertain significance |
| rs1457903078 | 8:37,888,152 | G/A | — | uncertain significance |
| rs28807105 | 8:37,893,517 | G/T | — | — |
| rs139192176 | 8:37,914,690 | G/A | — | likely benign |
| rs1417830311 | 8:37,914,701 | G/A | — | uncertain significance |
| rs61753671 | 8:37,914,738 | G/A | — | benign |
| rs2486736922 | 8:37,914,742 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.