GATB (glutamyl-tRNA amidotransferase subunit B)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5188
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamyl-tRNA amidotransferase subunit B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GATB
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD41, HSPC199, PET112, PET112L
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q31.3
SNPs SNP information provided by dbSNP.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603645 8849 ENSG00000059691
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathy, mitochondrial rs565910322, rs376766195 N/A
combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency 41 rs565910322, rs376766195 N/A
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathies Associate 30283131
Genetic Diseases Inborn Associate 30283131