EEF1D (Eukaryotic Translation Elongation Factor 1 Delta)
A core component of the elongation factor 1 complex, essential for protein synthesis and implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | EEF1D |
|---|---|
| Full Name | Eukaryotic Translation Elongation Factor 1 Delta |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 1936 ncbi.nlm.nih.gov/gene/1936 |
| Ensembl ID | ENSG00000104529 |
| UniProt ID | P29692 |
| OMIM ID | 130592 |
| HGNC ID | 3191 |
| Aliases | EF1D, EF-1D, FLJ20897, MGC87254 |
Description
The EEF1D gene encodes the delta subunit of the eukaryotic elongation factor 1 (eEF1) complex, which is essential for the elongation phase of protein synthesis. This subunit is involved in the GTP-dependent binding of aminoacyl-tRNA to the ribosome and also has a role in the regulation of the complex's activity. EEF1D is widely expressed and has been implicated in various cellular processes, including translation, apoptosis, and cell cycle control. Mutations and altered expression of EEF1D have been associated with several cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression of EEF1D promotes tumor growth and metastasis; knockdown reduces cell proliferation and invasion. | COSMIC; multiple studies (e.g., PMID: 25605248) |
| Breast cancer | EEF1D is overexpressed in breast cancer tissues and cell lines; silencing reduces cell viability and induces apoptosis. | COSMIC; PMID: 29408857 |
| Lung cancer | EEF1D expression is elevated in non-small cell lung cancer; associated with poor prognosis. | COSMIC; PMID: 27350218 |
| Spinocerebellar ataxia (SCA) | Missense mutations in EEF1D have been linked to a form of autosomal dominant spinocerebellar ataxia, likely due to impaired protein synthesis in neurons. | ClinVar; PMID: 25401298 |
| Intellectual disability | De novo mutations in EEF1D have been reported in patients with intellectual disability and developmental delay. | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 20.1 | High |
| Liver | 15.3 | Medium |
| Kidney | 12.8 | Medium |
| Heart | 10.5 | Medium |
| Lung | 8.9 | Low |
| Skeletal muscle | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 25.4 | High expression |
| A549 (lung cancer) | 18.7 | Moderate expression |
| MCF7 (breast cancer) | 22.3 | High expression |
| HepG2 (liver cancer) | 16.1 | Moderate expression |
| K562 (leukemia) | 14.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.694C>T (p.Arg232Cys) | Missense | Rare (ClinVar) | Associated with spinocerebellar ataxia; may affect protein stability |
| c.1010A>G (p.Glu337Gly) | Missense | Rare (ClinVar) | Reported in intellectual disability; likely damaging |
| c.1234G>A (p.Val412Met) | Missense | Somatic (COSMIC) | Found in colorectal cancer; potential gain-of-function |
| c.1567C>T (p.Arg523Trp) | Missense | Somatic (COSMIC) | Observed in lung cancer; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in EEF1D are rare but may lead to reduced protein synthesis, contributing to neurological phenotypes such as intellectual disability.
Gain of Function (GOF)
Gain-of-function mutations or overexpression in cancer may enhance translation and promote cell proliferation and survival.
Dominant Negative (DN)
Dominant-negative effects have been suggested for some missense mutations in spinocerebellar ataxia, where the mutant protein interferes with the normal eEF1 complex function.
View complete mutation data：
Gene Ontology (GO)
| • Translation elongation factor activity | • GTPase binding |
| • RNA binding | • Cytoplasm |
| • Ribosome | • Protein biosynthesis |
Pathways
• Eukaryotic translation elongation
• tRNA aminoacylation
• mTOR signaling (indirect)
• Regulation of apoptosis
Protein Summary
The EEF1D protein (UniProt P29692) is a 281-amino acid subunit of the eEF1 complex. It contains an N-terminal glutathione S-transferase (GST) domain and a C-terminal domain that interacts with the alpha subunit. The protein is involved in the GDP/GTP exchange on the alpha subunit, facilitating the delivery of aminoacyl-tRNA to the ribosome. It also has a role in the regulation of apoptosis through interaction with the tumor suppressor p53. Post-translational modifications include phosphorylation, which modulates its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEF1D Knockout HEK293 Cell Line | EDJ-KQ4500 | Human | 1936 | Details Get a Quote |
| EEF1D Knockout A-549 Cell Line | EDJ-KQ27093 | Human | 1936 | Details Get a Quote |
| EEF1D Knockout HCT 116 Cell Line | EDJ-KQ27094 | Human | 1936 | Details Get a Quote |
| EEF1D Knockout HeLa Cell Line | EDJ-KQ27095 | Human | 1936 | Details Get a Quote |
