GATB (glutamyl-tRNA amidotransferase subunit B)

Gene

• Entrez ID: 5188
• Gene name: Glutamyl-tRNA amidotransferase subunit B
• Gene symbol: GATB
• Synonyms (NCBI Gene): COXPD41, HSPC199, PET112, PET112L
• Chromosome: 4
• Chromosome location: 4q31.3

SNPs

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)

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
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	9878253, 19805282
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	30283131
GO:0006412	Process	Translation	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0016884	Function	Carbon-nitrogen ligase activity, with glutamine as amido-N-donor	IEA
GO:0030956	Component	Glutamyl-tRNA(Gln) amidotransferase complex	IBA
GO:0030956	Component	Glutamyl-tRNA(Gln) amidotransferase complex	IDA	19805282
GO:0030956	Component	Glutamyl-tRNA(Gln) amidotransferase complex	IEA
GO:0030956	Component	Glutamyl-tRNA(Gln) amidotransferase complex	IPI	19805282
GO:0032543	Process	Mitochondrial translation	IBA
GO:0032543	Process	Mitochondrial translation	IEA
GO:0032543	Process	Mitochondrial translation	IMP	19805282
GO:0050567	Function	Glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity	IBA
GO:0050567	Function	Glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity	IDA	19805282
GO:0050567	Function	Glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity	IEA
GO:0070681	Process	Glutaminyl-tRNAGln biosynthesis via transamidation	IBA
GO:0070681	Process	Glutaminyl-tRNAGln biosynthesis via transamidation	IDA	19805282
GO:0070681	Process	Glutaminyl-tRNAGln biosynthesis via transamidation	IEA

Other IDs

• MIM: 603645
• HGNC: 8849
• e!Ensembl: ENSG00000059691

Protein

• 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:

  MAAPMLRWGCRGRRWAFARVDGGSCHRRGAPTGSTSNQIRGESSVAQQPLHTAQKTRKGE
  HKWAAVVGLEIHAQISSNSKLFSGSQVRFSAPPNSLVSFFDASLPGTLPVLNRRCVEAAV
  MTGLALNCHINKKSLFDRKHYFYADLPAGYQITQQRLPIAVNGSLIYGVCAGKKQSQVIP
  KTVRIKQIQLEQDSGKSLHDNLRSQTLIDLNRAGVGLLEVVLEPDMSCGEEAATAVRELQ
  LILQALGTSQANMAEGQLRVDANISVHHPGEPLGVRTEVKNLNSIRFLAKAIDYEIQRQI
  NELENGGEILNETRSFHHKLGCTMSMRDKEGKQDYRFMPEPNLPPLVLYDATSLPAGADP
  QQVINIDQIRETLPELPSVTREKLVQQYGMLLEHSFTLLNEVGLLEFFQNVIKETRAEPK
  KVTSWVLNTFLGYLKQQNLAVSESPVTPSALAELLDLLDSRTISSSAAKQVFEELWKREG
  KTPGQIVSEKQLELMQDQGALEQLCHSVMEAHPQVVMDVKNRNPRAINKLIGLVRKATQS
  RADPVMIKEILEKKLSL

• Sequence length: 557

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis
Metabolic pathways

Associated diseases

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cardiomyopathy, mitochondrial	Pathogenic	rs565910322, rs376766195	RCV000684828 RCV000684829	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined oxidative phosphorylation deficiency 41	Pathogenic	rs565910322, rs376766195	RCV001035445 RCV001035447	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATB-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cardiomyopathies	Cardiomyopathy	Pubtator	30283131	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial cardiomyopathy	Mitochondrial Cardiomyopathy	CLINVAR_DG	30283131		★☆☆☆☆ Found in Text Mining only