GATB: Glutamyl-tRNA(Gln) Amidotransferase Subunit B
A key component of the indirect tRNA aminoacylation pathway for Gln-tRNA formation
Gene Information Card
| Symbol | GATB |
|---|---|
| Full Name | Glutamyl-tRNA(Gln) Amidotransferase Subunit B |
| Gene Type | Protein coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 5188 ncbi.nlm.nih.gov/gene/5188 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | O75879 |
| OMIM ID | 603645 |
| HGNC ID | 4182 |
| Aliases | PET112, COXPD41, GatB |
Description
GATB encodes subunit B of the glutamyl-tRNA(Gln) amidotransferase complex. This enzyme is essential for the indirect pathway of glutaminyl-tRNA formation in mitochondria, where it converts mischarged Glu-tRNA(Gln) to Gln-tRNA(Gln). The protein is localized to the mitochondrial matrix and is critical for mitochondrial translation and respiratory chain function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 41 (COXPD41) | Loss-of-function mutations impair mitochondrial translation, leading to respiratory chain defects | ClinVar, OMIM #603645 |
| Mitochondrial encephalopathy | Defective Gln-tRNA synthesis disrupts mitochondrial protein synthesis | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Brain | 6.1 | Low |
| Skeletal Muscle | 10.2 | Medium |
| Kidney | 7.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 8.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/Start loss | Rare | Loss of protein expression |
| c.335G>A (p.Arg112Gln) | Missense | Rare | Impaired amidotransferase activity |
| c.674T>C (p.Leu225Pro) | Missense | Rare | Reduced complex stability |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish or severely reduce amidotransferase activity, leading to mitochondrial translation defects
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • ATP binding (GO:0005524) |
| • glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity (GO:0050567) | • translation (GO:0006412) |
| • mitochondrial translation (GO:0032543) |
Pathways
• Mitochondrial tRNA aminoacylation (indirect pathway)
• Organellar biogenesis and maintenance
Protein Summary
GATB is a 532-amino acid protein that forms the catalytic subunit B of the mitochondrial glutamyl-tRNA(Gln) amidotransferase heterotrimer (GatFAB). It binds ATP and catalyzes the transamidation of Glu-tRNA(Gln) to Gln-tRNA(Gln) using glutamine as amide donor. The protein is essential for mitochondrial protein synthesis and oxidative phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GATB Knockout HEK293 Cell Line | EDJ-KQ5437 | Human | 5188 | Details Get a Quote |
| GATB Knockout A-549 Cell Line | EDJ-KQ28618 | Human | 5188 | Details Get a Quote |
| GATB Knockout HCT 116 Cell Line | EDJ-KQ28619 | Human | 5188 | Details Get a Quote |
| GATB Knockout HeLa Cell Line | EDJ-KQ28620 | Human | 5188 | Details Get a Quote |
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