Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
283459
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamyl-tRNA amidotransferase subunit C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GATC
Synonyms (NCBI Gene) Gene synonyms aliases
15E1.2, COXPD42
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028589 hsa-miR-30a-5p Proteomics 18668040
MIRT032329 hsa-let-7b-5p Proteomics 18668040
MIRT677998 hsa-miR-122-3p HITS-CLIP 23824327
MIRT677997 hsa-miR-4740-3p HITS-CLIP 23824327
MIRT677996 hsa-miR-1247-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 19805282, 25416956, 28514442, 32296183, 33961781
GO:0005524 Function ATP binding IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617210 25068 ENSG00000257218
Protein
UniProt ID O43716
Protein name Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial (Glu-AdT subunit C) (EC 6.3.5.-) (Protein 15E1.2)
Protein function Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02686 Glu-tRNAGln 50 116 Glu-tRNAGln amidotransferase C subunit Family
Sequence
MWSRLVWLGLRAPLGGRQGFTSKADPQGSGRITAAVIEHLERLALVDFGSREAVARLEKA
IAFADRLRAVDTDGVEPMESVLEDRCLYLRSDNVVEGNCADELLQNSHRVVEEYFV
APPG
NISLPKLDEQEPFPHS
Sequence length 136
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Aminoacyl-tRNA biosynthesis
Metabolic pathways
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathy, mitochondrial rs1370579526 N/A
combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency 42 rs1370579526 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathies Associate 30283131
Genetic Diseases Inborn Associate 30283131