EEF1D
Description
The EEF1D (eukaryotic translation elongation factor 1 delta) is a protein-coding gene located on chromosome 8.
The EEF1D gene codes for the elongation factor 1-delta (EF-1-delta) protein, which is a subunit of the elongation factor 1 complex. This complex is responsible for transporting aminoacyl tRNAs to the ribosome during protein synthesis. EF-1-delta acts as a guanine nucleotide exchange factor, facilitating the process. It has been observed that EF-1-delta interacts with HIV-1 Tat, resulting in the suppression of host-cell mRNA translation while allowing HIV-1 mRNA translation to proceed. Multiple transcript variants have been identified for this gene, but only two have been fully characterized.
Isoform 1 of EF-1-delta works alongside EF-1-beta to facilitate the exchange of GDP for GTP on EF-1-alpha. This process reactivates EF-1-alpha, enabling it to deliver aminoacyl-tRNAs to the ribosome for protein synthesis.
EEF1D is also known as EF-1D, EF1D, FP1047.
Associated Diseases
- autosomal recessive non-syndromic intellectual disability
- endometrial cancer
- retinitis pigmentosa
- developmental and epileptic encephalopathy, 9
- neuronal ceroid lipofuscinosis 13
- ceroid lipofuscinosis, neuronal, 6B (Kufs type)
- Lennox-Gastaut syndrome
- Dravet syndrome
- ceroid lipofuscinosis, neuronal, 4 (Kufs type)
- Lafora disease
- cancer
