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    GATC glutamyl-tRNA amidotransferase subunit C [ Homo sapiens (human) ]

    Gene ID: 283459, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GATCprovided by HGNC
    Official Full Name
    glutamyl-tRNA amidotransferase subunit Cprovided by HGNC
    Primary source
    HGNC:HGNC:25068
    See related
    Ensembl:ENSG00000257218 MIM:617210; AllianceGenome:HGNC:25068
    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
    15E1.2; COXPD42
    Summary
    Predicted to enable ATP binding activity and 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 42. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 15.5), lymph node (RPKM 14.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GATC in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (120446444..120463749)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (120434957..120452263)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (120884247..120901552)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903126 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:120883528-120884727 Neighboring gene cytochrome c oxidase subunit 6A1 Neighboring gene TP53 regulated inhibitor of apoptosis 1 Neighboring gene ribosomal protein L31 pseudogene 52 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4951 Neighboring gene serine and arginine rich splicing factor 9 Neighboring gene dynein light chain LC8-type 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:120933574-120934240 Neighboring gene negative regulator of antiviral response Neighboring gene coenzyme Q5, methyltransferase Neighboring gene ribosomal protein L29 pseudogene 24

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The mitochondrial defective phenotype provoked by the absence of gatA in human cells is confirmed by means of a deficient ability to grow when galactose is used as a carbon source.
      Title: Glutamyl-tRNAGln amidotransferase is essential for mammalian mitochondrial translation in vivo.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. 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 42
    MedGen: C5394237 OMIM: 618839 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: COX6A1

    Homology

    Clone Names

    • FLJ37000, MGC129938

    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    involved_in regulation of translational fidelity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 

    General protein information

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    Preferred Names
    glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial
    Names
    glu-AdT subunit C
    glutamyl-tRNA(Gln) amidotransferase, subunit C homolog
    NP_789788.1

    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_176818.3 → NP_789788.1  glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial

      See identical proteins and their annotated locations for NP_789788.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript.
      Source sequence(s)
      AL021546, BC107145
      Consensus CDS
      CCDS31911.1
      UniProtKB/Swiss-Prot
      B3KSU7, O43716, Q3B824, Q3KNR8
      Related
      ENSP00000446872.1, ENST00000551765.6
      Conserved Domains (1) summary
      PRK00034
      Location:31 → 118
      gatC; aspartyl/glutamyl-tRNA amidotransferase subunit C; Reviewed

    RNA

    1. NR_033684.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an additional coding exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon as used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL021546, BC047778

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      120446444..120463749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      120434957..120452263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43716.1 GenPept UniProtKB/Swiss-Prot:O43716

    Gene LinkOut

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

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