GATB - glutamyl-tRNA amidotransferase subunit B Gene

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

GATB Protein Structure

GatB_N

GatB_Yqey

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05298	GATB Human Pre-designed siRNA Set A		/	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