EIF5
Eukaryotic Translation Initiation Factor 5
Gene Information Card
| Symbol | EIF5 |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 1983 ncbi.nlm.nih.gov/gene/1983 |
| Ensembl ID | ENSG00000100888 |
| UniProt ID | P55010 |
| OMIM ID | 601710 |
| HGNC ID | 3299 |
| Aliases | EIF-5, eIF-5A, eIF5A |
Description
EIF5 encodes eukaryotic translation initiation factor 5, a GTPase-activating protein that promotes ribosomal subunit joining and translation initiation. It catalyzes the hydrolysis of GTP bound to eIF2, facilitating the release of eIF2-GDP and the joining of the 60S ribosomal subunit to form the 80S initiation complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of translation initiation promotes uncontrolled cell proliferation | COSMIC; PMID: 25691885 |
| Neurodevelopmental disorders | Altered eIF5 function impairs neuronal protein synthesis | ClinVar; PMID: 28965846 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Altered GTPase activity |
| c.205C>T (p.Arg69Trp) | Missense | <0.01% | Impaired translation initiation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reducing GTPase activity impair translation initiation.
Gain of Function (GOF)
Not well documented.
Dominant Negative (DN)
Some mutations may interfere with wild-type eIF5 function.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • translation initiation factor activity |
| • ribosome binding | • cytoplasm |
| • eukaryotic translation initiation factor 4F complex | • regulation of translational initiation |
Pathways
• Eukaryotic Translation Initiation
• Cap-dependent Translation Initiation
• Regulation of eIF2 activity
Protein Summary
EIF5 is a 49 kDa protein that acts as a GTPase-activating protein (GAP) for eIF2. It binds to the 40S ribosomal subunit and promotes the hydrolysis of eIF2-bound GTP, a critical step for the joining of the 60S subunit and the formation of the 80S initiation complex. The protein is essential for accurate and efficient translation initiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF5AL1 Knockout HEK293 Cell Line | EDJ-KQ10319 | Human | 143244 | Details Get a Quote |
| EIF5A2 Knockout HEK293 Cell Line | EDJ-KQ13271 | Human | 56648 | Details Get a Quote |
| EIF5A2 Knockout A-549 Cell Line | EDJ-KQ41454 | Human | 56648 | Details Get a Quote |
| EIF5AL1 Knockout HeLa Cell Line | EDJ-KQ36366 | Human | 143244 | Details Get a Quote |
| EIF5AL1 Knockout A-549 Cell Line | EDJ-KQ37617 | Human | 143244 | Details Get a Quote |
| EIF5AL1 Knockout HCT 116 Cell Line | EDJ-KQ37618 | Human | 143244 | Details Get a Quote |
| EIF5A2 Knockout HCT 116 Cell Line | EDJ-KQ42681 | Human | 56648 | Details Get a Quote |
| EIF5A2 Knockout HeLa Cell Line | EDJ-KQ42682 | Human | 56648 | Details Get a Quote |
