GATB - glutamyl-tRNA amidotransferase subunit B Gene
Also Known as PET112; COXPD41; HSPC199; PET112L
Species: Homo sapiens
About GATB
This gene has 14 transcripts (splice variants), 210 orthologues and is associated with 1 phenotype. Ubiquitous expression in heart (RPKM 11.7), kidney (RPKM 7.9) and 25 other tissues.
Summary
Enables glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined Oxidative Phosphorylation deficiency 41. [provided by Alliance of Genome Resources, Apr 2022]
GATB Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001363341.2 | NP_001350270.1 | glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial isoform 2 precursor |
| NM_004564.3 | NP_004555.1 | glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| contributes to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity |
IDA
IDA: Inferred from direct assay
|
19805282 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19805282 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in glutaminyl-tRNAGln biosynthesis via transamidation |
IDA
IDA: Inferred from direct assay
|
19805282 | GOA |
| involved in mitochondrial translation |
IMP
IMP: Inferred from mutant phenotype
|
19805282 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of glutamyl-tRNA(Gln) amidotransferase complex |
IDA
IDA: Inferred from direct assay
|
19805282 | GOA |
| part of glutamyl-tRNA(Gln) amidotransferase complex |
IPI
IPI: Inferred from physical interaction
|
19805282 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
9878253 | GOA |
| located in mitochondrion |
IMP
IMP: Inferred from mutant phenotype
|
30283131 | GOA |
GATB Protein Structure
GatB_N: GatB/GatE catalytic domain (65 - 350)
GatB_Yqey: GatB domain (406 - 555)
- 0
- 100
- 200
- 300
- 400
- 500
- 557 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial |
|
GATB Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P810100 | PET112L Antibody (YA9444) | WB, IP, ELISA | human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Combined Oxidative Phosphorylation Deficiency 41 |
|
|
| Combined Oxidative Phosphorylation Deficiency |
|
|
| Bejel |
|
|
| St. Louis Encephalitis |
|
|
| Chromosome 6q24-Q25 Deletion Syndrome |
|
|
| Filarial Elephantiasis |
|
|
| Lactic Acidosis |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Inflammatory Bowel Disease 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | GATB | VGNC | VGNC:53903 |
| Canis familiaris | GATB | VGNC | VGNC:41128 |
| Macaca mulatta | GATB | VGNC | VGNC:72929 |
| Rattus norvegicus | GATB | RGD | RGD:1307864 |
| Felis catus | GATB | VGNC | VGNC:68789 |
| Mus musculus | GATB | MGD | MGI:2442496 |
| Others | GATB | NCBI |