MTG1 (Mitochondrial Ribosome Associated GTPase 1)
A nuclear-encoded GTPase involved in mitochondrial large ribosomal subunit maturation and translation.
Gene Information Card
| Symbol | MTG1 |
|---|---|
| Full Name | Mitochondrial Ribosome Associated GTPase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 92140 ncbi.nlm.nih.gov/gene/92140 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q9BT22 |
| OMIM ID | 614876 |
| HGNC ID | 25526 |
| Aliases | GTPBP7, MST027, bA68F7.1 |
Description
MTG1 encodes a nuclear-encoded GTPase that localizes to the mitochondria. It is essential for the assembly of the mitochondrial large ribosomal subunit (mtLSU) and for efficient mitochondrial translation. MTG1 binds GTP and is required for the release of the ribosome assembly factor MTERF4 from the mtLSU. Loss of MTG1 leads to impaired mitochondrial protein synthesis, respiratory chain deficiency, and altered mitochondrial morphology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | MTG1 overexpression promotes mitochondrial biogenesis and tumor growth; knockdown reduces proliferation and induces apoptosis in HCC cells. | PMID: 31406129 |
| Colorectal cancer | MTG1 is upregulated in colorectal cancer tissues; silencing MTG1 inhibits cell proliferation and invasion via mitochondrial dysfunction. | PMID: 32015556 |
| Mitochondrial complex I deficiency | MTG1 mutations impair mitochondrial translation leading to complex I assembly defects and reduced ATP production. | PMID: 28453785 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Skeletal muscle | 8.2 | Medium |
| Brain | 6.1 | Low |
| Kidney | 7.4 | Low |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HeLa | 11.5 | Cervical adenocarcinoma cell line |
| HEK293 | 10.8 | Embryonic kidney cell line |
| K562 | 9.1 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437G>A (p.Arg146His) | Missense | <0.01% | Impaired GTPase activity; reduced mitochondrial translation |
| c.584T>C (p.Leu195Pro) | Missense | <0.01% | Disrupts protein folding; loss of function |
| c.742C>T (p.Arg248*) | Nonsense | <0.01% | Premature stop; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that impair GTP binding/hydrolysis or cause protein truncation lead to loss of MTG1 function, resulting in defective mitochondrial ribosome assembly and translation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MTG1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for MTG1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial translation (REACT: R-HSA-5368287)
• Mitochondrial ribosome assembly (REACT: R-HSA-5368286)
Protein Summary
MTG1 is a 399-amino-acid GTPase (UniProt Q9BT22) containing a conserved GTP-binding domain. It localizes to the mitochondrial matrix and associates with the large ribosomal subunit. MTG1 facilitates the release of MTERF4 from the mtLSU, a critical step in ribosome maturation. The protein is ubiquitously expressed with highest levels in testis and liver. Structural studies show that GTP binding induces conformational changes necessary for ribosome interaction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTG1 Knockout HEK293 Cell Line | EDJ-KQ51908 | Human | 92170 | Details Get a Quote |
| MTG1 Knockout HeLa Cell Line | EDJ-KQ57827 | Human | 92170 | Details Get a Quote |
| MTG1 Knockout A-549 Cell Line | EDJ-KQ66325 | Human | 92170 | Details Get a Quote |
| MTG1 Knockout HCT 116 Cell Line | EDJ-KQ74749 | Human | 92170 | Details Get a Quote |
