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

    Gene ID: 5188, updated on 30-Oct-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
    Contributes to 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, Oct 2024]
    Expression
    Ubiquitous expression in heart (RPKM 11.7), kidney (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (151670504..151761007, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (154993606..155084109, complement)
    RS_2024_09 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 uncharacterized LOC127898557 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 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 (33) 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
    		  
    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 
    located_in mitochondrion HTP 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

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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