GATB - glutamyl-tRNA amidotransferase subunit B Gene

Also Known as PET112; COXPD41; HSPC199; PET112L

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5188

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

GATB Antibodies

Cat. No. Product Name Application Reactivity
HY-P810100 PET112L Antibody (YA9444) WB, IP, ELISA human

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

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
Others GATB NCBI