GATC Gene - Glutamyl-tRNA(Gln) Amidotransferase Subunit C
Comprehensive genomic and functional overview of the GATC gene
Gene Information Card
| Symbol | GATC |
|---|---|
| Full Name | Glutamyl-tRNA(Gln) Amidotransferase Subunit C |
| Gene Type | protein-coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 283459 ncbi.nlm.nih.gov/gene/283459 |
| Ensembl ID | ENSG00000164104 |
| UniProt ID | Q8WY36 |
| OMIM ID | 617210 |
| HGNC ID | 28379 |
| Aliases | GatC, FLJ10305 |
Description
The GATC gene encodes the C subunit of the glutamyl-tRNA(Gln) amidotransferase complex, which is essential for the formation of correctly charged glutaminyl-tRNA in mitochondria. This enzyme converts mischarged glutamyl-tRNA(Gln) to glutaminyl-tRNA(Gln) via a transamidation reaction, critical for mitochondrial protein synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 53 | Defective mitochondrial tRNA aminoacylation leads to impaired translation of mitochondrial-encoded proteins | ClinVar, OMIM |
| Mitochondrial encephalopathy | Dysfunctional GATC disrupts mitochondrial protein synthesis, causing neurological symptoms | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Brain | 4.1 | Low |
| Kidney | 7.0 | Medium |
| Testis | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 9.1 | Hepatocellular carcinoma cell line |
| K562 | 6.8 | Chronic myeloid leukemia cell line |
| HeLa | 5.4 | Cervical carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.424C>T (p.Arg142Trp) | Missense | <0.01% | Impaired amidotransferase activity |
| c.625G>A (p.Gly209Ser) | Missense | <0.01% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish start codon or disrupt catalytic residues lead to loss of amidotransferase activity, impairing mitochondrial translation.
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)
| • mitochondrion (GO:0005739) | • ATP binding (GO:0005524) |
| • glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity (GO:0050567) | • glutaminyl-tRNAGln biosynthesis via transamidation (GO:0070681) |
Pathways
• Mitochondrial tRNA aminoacylation (Reactome: R-HSA-379716)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
The GATC protein (UniProt Q8WY36) is a 218-amino acid subunit of the mitochondrial glutamyl-tRNA(Gln) amidotransferase complex. It forms a heterotrimer with GatA and GatB subunits to catalyze the transamidation of mischarged glutamyl-tRNA(Gln) to glutaminyl-tRNA(Gln), using ATP and glutamine as substrates. The protein localizes to the mitochondrial matrix and is essential for organellar protein synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GATC Knockout HEK293 Cell Line | EDJ-KQ52190 | Human | 283459 | Details Get a Quote |
| GATC Knockout HeLa Cell Line | EDJ-KQ59397 | Human | 283459 | Details Get a Quote |
| GATC Knockout A-549 Cell Line | EDJ-KQ67864 | Human | 283459 | Details Get a Quote |
| GATC Knockout HCT 116 Cell Line | EDJ-KQ76245 | Human | 283459 | Details Get a Quote |
