EIF1
Eukaryotic Translation Initiation Factor 1
Gene Information Card
| Symbol | EIF1 |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 10209 ncbi.nlm.nih.gov/gene/10209 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | P41567 |
| OMIM ID | 603885 |
| HGNC ID | 3250 |
| Aliases | SUI1, A121, ISO1, eIF-1 |
Description
EIF1 encodes eukaryotic translation initiation factor 1, a component of the 43S pre-initiation complex. It is essential for scanning and start codon selection during translation initiation. The protein binds to the 40S ribosomal subunit and facilitates mRNA scanning and AUG recognition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of translation initiation may promote oncogenic protein synthesis | COSMIC; literature review |
| Neurodevelopmental disorders | Altered translation initiation may affect neuronal protein synthesis | ClinVar; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression |
| HeLa | 11.8 | High expression |
| K562 | 9.2 | Medium expression |
| A549 | 8.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown |
| c.100C>T | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of translation initiation function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • translation initiation factor activity (GO:0003743) | • translational initiation (GO:0006413) |
| • cytoplasm (GO:0005737) | • cytosolic small ribosomal subunit (GO:0022627) |
Pathways
• hsa03013 - RNA transport
• hsa03010 - Ribosome
• hsa04141 - Protein processing in endoplasmic reticulum
Protein Summary
EIF1 is a 113-amino acid protein (12.7 kDa) that binds to the 40S ribosomal subunit. It promotes scanning and start codon selection by stabilizing an open conformation of the 40S subunit. It is highly conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF1AY Knockout HEK293 Cell Line | EDJ-KQ6457 | Human | 9086 | Details Get a Quote |
| EIF1AY Knockout A-549 Cell Line | EDJ-KQ30534 | Human | 9086 | Details Get a Quote |
| EIF1AY Knockout HCT 116 Cell Line | EDJ-KQ30535 | Human | 9086 | Details Get a Quote |
| EIF1AX Knockout HEK293 Cell Line | EDJ-KQ50253 | Human | 1964 | Details Get a Quote |
| EIF1B Knockout HEK293 Cell Line | EDJ-KQ50953 | Human | 10289 | Details Get a Quote |
| EIF1AX Knockout HeLa Cell Line | EDJ-KQ53149 | Human | 1964 | Details Get a Quote |
| EIF1AY Knockout HeLa Cell Line | EDJ-KQ55082 | Human | 9086 | Details Get a Quote |
| EIF1B Knockout HeLa Cell Line | EDJ-KQ55370 | Human | 10289 | Details Get a Quote |
| EIF1AX Knockout A-549 Cell Line | EDJ-KQ61622 | Human | 1964 | Details Get a Quote |
| EIF1B Knockout A-549 Cell Line | EDJ-KQ63851 | Human | 10289 | Details Get a Quote |
| EIF1AX Knockout HCT 116 Cell Line | EDJ-KQ70108 | Human | 1964 | Details Get a Quote |
| EIF1B Knockout HCT 116 Cell Line | EDJ-KQ72310 | Human | 10289 | Details Get a Quote |
