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GATB glutamyl-tRNA amidotransferase subunit B [ Homo sapiens (human) ]

Gene ID: 5188, updated on 17-Jun-2024

Summary

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Official Symbol
GATBprovided by HGNC
Official Full Name
glutamyl-tRNA amidotransferase subunit Bprovided by HGNC
Primary source
HGNC:HGNC:8849
See related
Ensembl:ENSG00000059691 MIM:603645; AllianceGenome:HGNC:8849
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PET112; COXPD41; HSPC199; PET112L
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]
Expression
Ubiquitous expression in heart (RPKM 11.7), kidney (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

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See GATB in Genome Data Viewer
Location:
4q31.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (151670504..151761007, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (154993606..155084109, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (152591656..152682159, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr4:152328899-152329598 and GRCh37_chr4:152329599-152330298 Neighboring gene FHIP1A divergent transcript Neighboring gene FHF complex subunit HOOK interacting protein 1A Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:152405062-152405718 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:152405719-152406374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:152406474-152407173 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:152407174-152407872 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:152409975-152410608 Neighboring gene NANOG hESC enhancer GRCh37_chr4:152445639-152446203 Neighboring gene RN7SK pseudogene 35 Neighboring gene NANOG hESC enhancer GRCh37_chr4:152567291-152567852 Neighboring gene uncharacterized LOC107986197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:152593699-152594498 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:152608614-152609114 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:152609115-152609615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22022 Neighboring gene uncharacterized LOC105377488 Neighboring gene LOC105377488-LOC127898556 Neighboring gene NANOG hESC enhancer GRCh37_chr4:152732461-152732962 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:152795151-152795762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22024 Neighboring gene uncharacterized LOC102724700

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Friederich MW, et al. Nat Commun, 2018 Oct 3. PMID 30283131, Free PMC Article
  2. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Petruzzella V, et al. Genomics, 1998 Dec 15. PMID 9878253
  3. Biogenesis of glutaminyl-mt tRNAGln in human mitochondria. Nagao A, et al. Proc Natl Acad Sci U S A, 2009 Sep 22. PMID 19805282, Free PMC Article
  4. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. Seshadri S, et al. BMC Med Genet, 2007 Sep 19. PMID 17903297, Free PMC Article
  5. Inhibition of the Mitochondrial Protease ClpP as a Therapeutic Strategy for Human Acute Myeloid Leukemia. Cole A, et al. Cancer Cell, 2015 Jun 8. PMID 26058080, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  2. Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB.
    Title: Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 41
MedGen: C5394236 OMIM: 618838 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in glutaminyl-tRNAGln biosynthesis via transamidation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glutaminyl-tRNAGln biosynthesis via transamidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial translation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of glutamyl-tRNA(Gln) amidotransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of glutamyl-tRNA(Gln) amidotransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of glutamyl-tRNA(Gln) amidotransferase complex IPI
Inferred from Physical Interaction
more info
 PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial
Names
PET112 homolog
cytochrome c oxidase assembly factor PET112 homolog
cytochrome oxidase assembly factor PET112 homolog
glutamyl-tRNA(Gln) amidotransferase, subunit B
NP_001350270.1
NP_004555.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001363341.2 → NP_001350270.1  glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, comapred to variant 1, and encodes a shorter isoform (2) , compared to isoform 1
    Source sequence(s)
    AC092611
    UniProtKB/TrEMBL
    D6REA0
    Conserved Domains (1) summary
    PRK05477
    Location:62 → 510
    gatB; aspartyl/glutamyl-tRNA amidotransferase subunit B; Validated

  2. NM_004564.3 → NP_004555.1  glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_004555.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC092611, BC130348
    Consensus CDS
    CCDS3776.1
    UniProtKB/Swiss-Prot
    O75879, Q4W5M8, Q53GP4, Q9P0S6, Q9Y2B8
    UniProtKB/TrEMBL
    D6REA0
    Related
    ENSP00000263985.6, ENST00000263985.11
    Conserved Domains (3) summary
    PRK05477
    Location:62 → 555
    gatB; aspartyl/glutamyl-tRNA amidotransferase subunit B; Validated
    pfam02637
    Location:406 → 555
    GatB_Yqey; GatB domain
    pfam02934
    Location:65 → 348
    GatB_N; GatB/GatE catalytic domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    151670504..151761007 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    154993606..155084109 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75879.1 GenPept UniProtKB/Swiss-Prot:O75879

Gene LinkOut

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