Gene Gene information from NCBI Gene database.
Entrez ID 283459
Gene name Glutamyl-tRNA amidotransferase subunit C
Gene symbol GATC
Synonyms (NCBI Gene)
15E1.2COXPD42
Chromosome 12
Chromosome location 12q24.31
miRNA miRNA information provided by mirtarbase database.
1024
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617210 25068 ENSG00000257218
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiomyopathy, mitochondrial Pathogenic rs1370579526 RCV000684834
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined oxidative phosphorylation deficiency 42 Pathogenic rs1370579526 RCV001035465
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Malignant lymphoma, large B-cell, diffuse Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cardiomyopathies Cardiomyopathy Pubtator 30283131 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 31278284
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 31278284
★☆☆☆☆
Found in Text Mining only
Malignant tumor of cervix Cervical Tumor BEFREE 31278284
★☆☆☆☆
Found in Text Mining only
Mitochondrial cardiomyopathy Mitochondrial Cardiomyopathy CLINVAR_DG 30283131
★☆☆☆☆
Found in Text Mining only