2. Gene
  3. GATB - glutamyl-tRNA amidotransferase subunit B Gene

GATB - glutamyl-tRNA amidotransferase subunit B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PET112; COXPD41; HSPC199; PET112L

Gene ID: 5188 | Gene type: protein coding

About GATB

Cytogenetic location: 4q31.3 Genomic coordinates (GRCh38): 4:151,670,504-151,761,007 (from NCBI)

This gene has 14 transcripts (splice variants), 210 orthologues and is associated with 1 phenotype. Ubiquitous expression in heart (RPKM 11.7), kidney (RPKM 7.9) and 25 other tissues.

Summary

Enables glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined Oxidative Phosphorylation deficiency 41. [provided by Alliance of Genome Resources, Apr 2022]

GATB Products(2)

mRNA Protein Name
NM_001363341.2 NP_001350270.1 glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial isoform 2 precursor
NM_004564.3 NP_004555.1 glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial isoform 1 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
contributes to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity IDA
IDA: Inferred from direct assay
19805282 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19805282 GOA
Biological Process GO Annotation Evidence Reference Source
involved in glutaminyl-tRNAGln biosynthesis via transamidation IDA
IDA: Inferred from direct assay
19805282 GOA
involved in mitochondrial translation IMP
IMP: Inferred from mutant phenotype
19805282 GOA
Cellular Component GO Annotation Evidence Reference Source
part of glutamyl-tRNA(Gln) amidotransferase complex IDA
IDA: Inferred from direct assay
19805282 GOA
part of glutamyl-tRNA(Gln) amidotransferase complex IPI
IPI: Inferred from physical interaction
19805282 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
9878253 GOA
located in mitochondrion IMP
IMP: Inferred from mutant phenotype
30283131 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GATB Protein Structure

GatB_N

GatB_N: GatB/GatE catalytic domain (65 - 350)

GatB_Yqey

GatB_Yqey: GatB domain (406 - 555)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 557 a.a.
Protein Preferred Names Protein Names

glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial

PET112 homolog

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 41

COXPD41
Combined Oxidative Phosphorylation Deficiency
Bejel

Njovera

Dichuchwa

Nonvenereal Endemic Syphilis

Endemic Syphilis

Frenga

Nonvenereal Syphilis

Treponemal Infections

Non-Venereal Endemic Syphilis

Siti

Skerljevo

Belesh
St. Louis Encephalitis

Saint Louis Encephalitis

Neuroinvasive St. Louis Encephalitis Virus Infection

Encephalitis, St. Louis

Neuroinvasive Saint Louis Encephalitis Virus Infection

St. Louis Encephalitis Virus Infection

St. Louis Encephalitis Virus Neuroinvasive Disease

St. Louis Viral Disease

Type C Lethargic Encephalitis

Encephalitis Type C
Chromosome 6q24-Q25 Deletion Syndrome

Chromosome 6q25-Q25 Deletion Syndrome

6q25 Microdeletion Syndrome

Monosomy 6q25

Del(6)(Q25)
Filarial Elephantiasis

Lymphatic Filariasis

Elephantiasis

Filariasis

Bancroftian Elephantiasis

Bancroftian Filarial Chyluria

Elephantiasis Of Eyelid

Bancroftian Filariasis

Elephantitis

Malayi Tropical Eosinphilia

Wuchereria Bancrofti Infection

Wuchereriasis

Elephantiasis, Filarial

Filarial Elephantiases

Infection By Wuchereria Bancrofti

Filarial Lymphangitis

Tropical Elephantiasis

Filarial Chylocele
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis
Inflammatory Bowel Disease 1

Inflammatory Bowel Disease 1

IBD1

Crohn Disease-Associated Growth Failure

Crohn Disease

Regional Enteritis

Ulcerative Colitis

Crohn Disease-Associated Growth Failure, Susceptibility To

Inflammatory Bowel Disease 1, Crohn Disease

Bowel Disease, Inflammatory, Type 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05298 GATB Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus GATB VGNC VGNC:53903
Canis familiaris GATB VGNC VGNC:41128
Macaca mulatta GATB VGNC VGNC:72929
Rattus norvegicus GATB RGD RGD:1307864
Felis catus GATB VGNC VGNC:68789
Mus musculus GATB MGD MGI:2442496