GATB (glutamyl-tRNA amidotransferase subunit B)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5188
Gene name Glutamyl-tRNA amidotransferase subunit B
Gene symbol GATB
Synonyms (NCBI Gene)
COXPD41HSPC199PET112PET112L
Chromosome 4
Chromosome location 4q31.3
SNPs SNP information provided by dbSNP.
2
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs376766195 A>C Pathogenic Coding sequence variant, missense variant
rs565910322 CT>- Pathogenic Frameshift variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 19805282, 28514442, 33961781
GO:0005524 Function ATP binding IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603645 8849 ENSG00000059691
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75879
Protein name Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial (Glu-AdT subunit B) (EC 6.3.5.-) (Cytochrome c oxidase assembly factor PET112 homolog)
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
PF02934 GatB_N 65 → 353 GatB/GatE catalytic domain Domain
PF02637 GatB_Yqey 406 → 555 GatB domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle and heart. {ECO:0000269|PubMed:9878253}.
Sequence
Sequence length 557
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Aminoacyl-tRNA biosynthesis
Metabolic pathways 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
36
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy, mitochondrial Pathogenic rs565910322, rs376766195 RCV000684828
RCV000684829
Combined oxidative phosphorylation deficiency 41 Pathogenic rs565910322, rs376766195 RCV001035445
RCV001035447
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs11292952 RCV005868220
Colon adenocarcinoma Likely benign rs150296974 RCV005938733
Familial cancer of breast Likely benign rs150296974 RCV005938732
Gastric cancer Likely benign rs150296974 RCV005938735
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathies Associate 30283131
Genetic Diseases Inborn Associate 30283131