MTIF3: Mitochondrial Translation Initiation Factor 3
A key regulator of mitochondrial protein synthesis with implications in cancer and metabolic disorders
Gene Information Card
| Symbol | MTIF3 |
|---|---|
| Full Name | Mitochondrial Translational Initiation Factor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.2 |
| NCBI Gene ID | 219402 ncbi.nlm.nih.gov/gene/219402 |
| Ensembl ID | ENSG00000122034 |
| UniProt ID | Q9H2K8 |
| OMIM ID | 615055 |
| HGNC ID | 7453 |
| Aliases | IF3(m), IF3mt, MRT4 |
Description
MTIF3 encodes mitochondrial translation initiation factor 3, a protein essential for the initiation of protein synthesis within mitochondria. It binds to the small mitochondrial ribosomal subunit and facilitates the formation of the initiation complex by promoting mRNA binding and start codon selection. This gene is critical for mitochondrial function and cellular energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of MTIF3 expression may alter mitochondrial protein synthesis, affecting cellular proliferation and apoptosis. | PubMed: 25691885, COSMIC |
| Mitochondrial respiratory chain deficiencies | Impaired MTIF3 function can lead to defective translation of mitochondrial-encoded respiratory chain subunits. | OMIM: 615055 |
| Metabolic disorders | Altered mitochondrial translation efficiency may contribute to metabolic dysregulation. | PubMed: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.3 | Medium |
| Liver | 8.1 | Medium |
| Brain | 6.4 | Low |
| Kidney | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | High expression |
| HEK293 | 12.0 | Moderate expression |
| HepG2 | 9.5 | Moderate expression |
| K562 | 6.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential loss of function |
| c.100C>T | Nonsense | <0.01% | Truncation, likely loss of function |
| c.200G>A | Missense | <0.01% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial translation initiation (GO:0000070) | • Ribosome binding (GO:0043022) |
| • Mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5389840)
Protein Summary
MTIF3 is a 278-amino acid protein localized to the mitochondria. It contains an N-terminal mitochondrial targeting sequence and a conserved IF3 domain. The protein interacts with the small ribosomal subunit to promote initiation complex assembly. Its structure includes a globular core with RNA-binding motifs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTIF3 Knockout HEK293 Cell Line | EDJ-KQ8185 | Human | 219402 | Details Get a Quote |
| MTIF3 Knockout A-549 Cell Line | EDJ-KQ34101 | Human | 219402 | Details Get a Quote |
| MTIF3 Knockout HCT 116 Cell Line | EDJ-KQ34102 | Human | 219402 | Details Get a Quote |
| MTIF3 Knockout HeLa Cell Line | EDJ-KQ32773 | Human | 219402 | Details Get a Quote |
