EEF1G
Eukaryotic Translation Elongation Factor 1 Gamma
Gene Information Card
| Symbol | EEF1G |
|---|---|
| Full Name | Eukaryotic Translation Elongation Factor 1 Gamma |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 1937 ncbi.nlm.nih.gov/gene/1937 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | P26641 |
| OMIM ID | 130593 |
| HGNC ID | 3213 |
| Aliases | EF1G, GIG35, eEF-1B gamma |
Description
EEF1G encodes the gamma subunit of the eukaryotic elongation factor 1 complex, which is responsible for the enzymatic delivery of aminoacyl-tRNA to the ribosome during protein synthesis. The gamma subunit is thought to play a structural role in the complex and may also have a role in cell proliferation and apoptosis. EEF1G is ubiquitously expressed and has been implicated in various cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of EEF1G may promote translation of oncogenic proteins, enhancing cell proliferation and survival. | NCBI Gene, COSMIC |
| Alzheimer's disease | Altered EEF1G expression may affect synaptic protein synthesis and contribute to neurodegeneration. | NCBI Gene, OMIM |
| Developmental disorders | Rare variants in EEF1G have been associated with intellectual disability and microcephaly. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 18.5 | High |
| Kidney | 14.1 | Medium |
| Lung | 11.3 | Medium |
| Testis | 20.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | High expression |
| HeLa | 19.8 | High expression |
| K562 | 16.5 | Medium expression |
| HepG2 | 21.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | <0.01% | Likely loss of function; associated with developmental disorder |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.789_790insA) are predicted to cause loss of function, potentially impairing translation elongation and cellular growth.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in EEF1G.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in EEF1G.
View complete mutation data：
Gene Ontology (GO)
| • translation elongation factor activity | • GTPase activity |
| • protein binding | • cytoplasm |
| • ribosome |
Pathways
• Eukaryotic translation elongation
• tRNA aminoacylation
• Protein metabolism
Protein Summary
The EEF1G protein (eEF1B gamma) is a 437-amino-acid subunit of the eukaryotic elongation factor 1B complex. It contains a glutathione S-transferase-like domain and is involved in the guanine nucleotide exchange activity of the EF1 complex. The protein is localized to the cytoplasm and is highly expressed in tissues with active protein synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEF1G Knockout HEK293 Cell Line | EDJ-KQ50252 | Human | 1937 | Details Get a Quote |
| EEF1G Knockout HeLa Cell Line | EDJ-KQ53142 | Human | 1937 | Details Get a Quote |
| EEF1G Knockout A-549 Cell Line | EDJ-KQ61615 | Human | 1937 | Details Get a Quote |
| EEF1G Knockout HCT 116 Cell Line | EDJ-KQ70102 | Human | 1937 | Details Get a Quote |
