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GATC (Glutamyl-TRNA Amidotransferase Subunit C) is a Protein Coding gene. Diseases associated with GATC include Combined Oxidative Phosphorylation Deficiency 42 and Wound Botulism. Among its related pathways are Metabolism and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. An important paralog of this gene is ENSG00000111780.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 19805282 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016874 | ligase activity | IEA | -- |
GO:0016884 | carbon-nitrogen ligase activity, with glutamine as amido-N-donor | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,IDA | 19805282 |
GO:0030956 | glutamyl-tRNA(Gln) amidotransferase complex | IEA,IDA | 19805282 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA Aminoacylation | ||
2 | Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006412 | translation | IEA | -- |
GO:0006450 | regulation of translational fidelity | IEA | -- |
GO:0032543 | mitochondrial translation | IMP | 19805282 |
GO:0070681 | glutaminyl-tRNAGln biosynthesis via transamidation | IEA,IDA | 19805282 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phosphoric acid | Approved | Pharma | 0 | |||
Glutamic acid | Approved | Nutra | Agonist, Full agonist | 304 | ||
L-Glutamine | Approved, Investigational | Nutra | Agonist, Full agonist | 0 | ||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GATC 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GATC 30 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | GATC 30 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Gatc 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gatc 30 17 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | GATC 30 |
|
||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gatc 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:rp71-1c23.3 30 |
|
||
GATC 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP013093 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG33649 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y66D12A.7 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1131691323 | Uncertain Significance: not provided | 120,457,131(+) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs1370579526 | Pathogenic: Cardiomyopathy, mitochondrial; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 | 120,446,808(+) | T/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs17431446 | - | p.Ser3Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3630923 | CNV | gain | 21293372 |
esv3630924 | CNV | loss | 21293372 |
nsv509482 | CNV | insertion | 20534489 |
nsv983369 | CNV | duplication | 23825009 |
nsv983370 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
combined oxidative phosphorylation deficiency 42 |
|
|
wound botulism |
|
|
floating-harbor syndrome |
|
|