Aliases for GATC Gene

Aliases for GATC Gene

  • Glutamyl-TRNA Amidotransferase Subunit C 2 3 5
  • 15E1.2 2 3 4
  • Glutamyl-TRNA(Gln) Amidotransferase Subunit C, Mitochondrial 3 4
  • Glu-AdT Subunit C 3 4
  • Glutamyl-TRNA(Gln) Amidotransferase, Subunit C Homolog (Bacterial) 2
  • Glutamyl-TRNA(Gln) Amidotransferase, Subunit C Homolog 3
  • Protein 15E1.2 4
  • EC 6.3.5.- 4
  • FLJ37000 2
  • COXPD42 3
  • GATC 5

External Ids for GATC Gene

Previous GeneCards Identifiers for GATC Gene

  • GC12P119368
  • GC12P120884
  • GC12P117893

Summaries for GATC Gene

GeneCards Summary for GATC Gene

GATC (Glutamyl-TRNA Amidotransferase Subunit C) is a Protein Coding gene. Diseases associated with GATC include Combined Oxidative Phosphorylation Deficiency 42 and Wound Botulism. Among its related pathways are tRNA Aminoacylation and Metabolism. Gene Ontology (GO) annotations related to this gene include glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. An important paralog of this gene is ENSG00000111780.

UniProtKB/Swiss-Prot Summary for GATC Gene

  • Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GATC Gene

Genomics for GATC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GATC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J120445 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.1 57 3 ZSCAN16 CHD2 TBP ZBTB10 BCL11A SP1 MXD4 FEZF1 CEBPA SIX5 GATC TRIAP1 lnc-SRSF9-1 COQ5 ANAPC5 RPL31P52 RPLP0 GCN1 PRKAB1 SPPL3
GH12J120459 Promoter 0.5 EPDnew 250.4 +13.5 13518 0.1 SUPT5H POLR2A GATC HSALNG0094523 SRSF9 MN297196 ENSG00000111780 HSALNG0094521
GH12J120467 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 27.6 +23.0 23021 3.5 CHD2 TBP NR2C1 IKZF1 SMAD5 ETS1 IRF2 MBD2 ZNF217 POLR2A DYNLL1 HSALNG0094524 SRSF9 COQ5 GATC RPLP0 MSI1 RAB35 lnc-TRIAP1-2 HSALNG0094521
GH12J120533 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 26.7 +90.8 90780 7.2 ZSCAN16 TBP MXD4 FEZF1 CEBPA SIX5 MNT IKZF1 SMAD5 ETS1 RNF10 COQ5 GATC CABP1 POP5 RPL31P52 TRIAP1 ENSG00000111780 SPPL3 ENSG00000256569
GH12J120494 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 26.8 +50.0 49957 4 TBP ZBTB10 SP1 MXD4 MNT IKZF1 SMAD5 IRF2 MBD2 POLR2A SRSF9 DYNLL1 NONHSAG012519.2 NRAV COQ5 GATC RPL29P24 RPL31P52 RNF10 TRIAP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GATC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GATC

Top Transcription factor binding sites by QIAGEN in the GATC gene promoter:
  • AML1a
  • c-Myc
  • GR
  • GR-alpha
  • GR-beta
  • Max
  • MIF-1
  • Olf-1
  • RFX1
  • Tal-1beta

Genomic Locations for GATC Gene

Latest Assembly
chr12:120,446,444-120,463,749
(GRCh38/hg38)
Size:
17,306 bases
Orientation:
Plus strand

Previous Assembly
chr12:120,884,247-120,901,552
(GRCh37/hg19 by Entrez Gene)
Size:
17,306 bases
Orientation:
Plus strand

chr12:120,884,241-120,899,389
(GRCh37/hg19 by Ensembl)
Size:
15,149 bases
Orientation:
Plus strand

Genomic View for GATC Gene

Genes around GATC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GATC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GATC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GATC Gene

Proteins for GATC Gene

  • Protein details for GATC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43716-GATC_HUMAN
    Recommended name:
    Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial
    Protein Accession:
    O43716
    Secondary Accessions:
    • B3KSU7
    • Q3B824
    • Q3KNR8

    Protein attributes for GATC Gene

    Size:
    136 amino acids
    Molecular mass:
    15086 Da
    Quaternary structure:
    • Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (GATB) and C (GATC) subunits.
    Miscellaneous:
    • This protein may be expected to contain an N-terminal transit peptide but none has been predicted.

neXtProt entry for GATC Gene

Post-translational modifications for GATC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GATC Gene

No data available for DME Specific Peptides for GATC Gene

Domains & Families for GATC Gene

Gene Families for GATC Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GATC Gene

InterPro:
Blocks:
  • Glu-tRNAGln amidotransferase, C subunit
ProtoNet:

Suggested Antigen Peptide Sequences for GATC Gene

GenScript: Design optimal peptide antigens:
  • Protein 15E1.2 (GATCL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43716

UniProtKB/Swiss-Prot:

GATC_HUMAN :
  • Belongs to the GatC family.
Family:
  • Belongs to the GatC family.
genes like me logo Genes that share domains with GATC: view

Function for GATC Gene

Molecular function for GATC Gene

UniProtKB/Swiss-Prot Function:
Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + L-glutamine + L-glutamyl-tRNA(Gln) = ADP + H(+) + L-glutamate + L-glutaminyl-tRNA(Gln) + phosphate; Xref=Rhea:RHEA:17521, Rhea:RHEA-COMP:9681, Rhea:RHEA-COMP:9684, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58359, ChEBI:CHEBI:78520, ChEBI:CHEBI:78521, ChEBI:CHEBI:456216; Evidence={ECO:0000255|HAMAP-Rule:MF_03149};.

Enzyme Numbers (IUBMB) for GATC Gene

Phenotypes From GWAS Catalog for GATC Gene

Gene Ontology (GO) - Molecular Function for GATC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 19805282
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0016884 carbon-nitrogen ligase activity, with glutamine as amido-N-donor IEA --
genes like me logo Genes that share ontologies with GATC: view
genes like me logo Genes that share phenotypes with GATC: view

Human Phenotype Ontology for GATC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GATC Gene

MGI Knock Outs for GATC:
  • Gatc Gatc<tm1a(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GATC

No data available for Transcription Factor Targets and HOMER Transcription for GATC Gene

Localization for GATC Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATC Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GATC gene
Compartment Confidence
mitochondrion 5
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GATC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA 19805282
GO:0030956 glutamyl-tRNA(Gln) amidotransferase complex IBA,IDA 19805282
genes like me logo Genes that share ontologies with GATC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GATC Gene

Pathways & Interactions for GATC Gene

PathCards logo

SuperPathways for GATC Gene

genes like me logo Genes that share pathways with GATC: view

Pathways by source for GATC Gene

2 KEGG pathways for GATC Gene

Gene Ontology (GO) - Biological Process for GATC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006450 regulation of translational fidelity IEA --
GO:0032543 mitochondrial translation IBA,IMP 19805282
GO:0070681 glutaminyl-tRNAGln biosynthesis via transamidation IBA,IDA 19805282
genes like me logo Genes that share ontologies with GATC: view

No data available for SIGNOR curated interactions for GATC Gene

Drugs & Compounds for GATC Gene

(4) Drugs for GATC Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra 320
L-Glutamine Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for GATC Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with GATC: view

Transcripts for GATC Gene

mRNA/cDNA for GATC Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GATC

Alternative Splicing Database (ASD) splice patterns (SP) for GATC Gene

No ASD Table

Relevant External Links for GATC Gene

GeneLoc Exon Structure for
GATC

Expression for GATC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GATC Gene

Protein differential expression in normal tissues from HIPED for GATC Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.7), Heart (11.2), and Frontal cortex (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GATC Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GATC

SOURCE GeneReport for Unigene cluster for GATC Gene:

Hs.706889

Evidence on tissue expression from TISSUES for GATC Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with GATC: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GATC Gene

Orthologs for GATC Gene

This gene was present in the common ancestor of animals.

Orthologs for GATC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GATC 30 31
  • 99.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GATC 30 31
  • 85.93 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia GATC 30 31
  • 85.29 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Gatc 30
  • 78.22 (n)
Mouse
(Mus musculus)
Mammalia Gatc 30 17 31
  • 78.03 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 63 (a)
OneToMany
Chicken
(Gallus gallus)
Aves GATC 30
  • 64.41 (n)
-- 31
  • 45 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 52 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gatc 30
  • 61.28 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:rp71-1c23.3 30
  • 63.4 (n)
GATC 31
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013093 30
  • 53.4 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG33649 30 31
  • 48.63 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y66D12A.7 31
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToMany
Species where no ortholog for GATC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GATC Gene

ENSEMBL:
Gene Tree for GATC (if available)
TreeFam:
Gene Tree for GATC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GATC: view image

Paralogs for GATC Gene

Paralogs for GATC Gene

(5) SIMAP similar genes for GATC Gene using alignment to 3 proteins:

  • GATC_HUMAN
  • F8VRU3_HUMAN
  • J3KMY1_HUMAN

Pseudogenes.org Pseudogenes for GATC Gene

genes like me logo Genes that share paralogs with GATC: view

Variants for GATC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GATC Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1131691323 Uncertain Significance: not provided 120,457,131(+) C/G
NM_176818.3(GATC):c.310C>G (p.Leu104Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1370579526 Pathogenic: Combined oxidative phosphorylation deficiency 42; Cardiomyopathy, mitochondrial 120,446,808(+) T/G
NM_176818.3(GATC):c.233T>G (p.Met78Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs17431446 - p.Ser3Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GATC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GATC Gene

Variant ID Type Subtype PubMed ID
esv3630923 CNV gain 21293372
esv3630924 CNV loss 21293372
nsv509482 CNV insertion 20534489
nsv983369 CNV duplication 23825009
nsv983370 CNV duplication 23825009

Variation tolerance for GATC Gene

Residual Variation Intolerance Score: 55.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.35; 53.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GATC Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GATC

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATC Gene

Disorders for GATC Gene

MalaCards: The human disease database

(3) MalaCards diseases for GATC Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 42
  • coxpd42
wound botulism
  • cutaneous infectious botulism
floating-harbor syndrome
  • flhs
- elite association - COSMIC cancer census association via MalaCards
Search GATC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GATC_HUMAN
  • Combined oxidative phosphorylation deficiency 42 (COXPD42) [MIM:618839]: An autosomal recessive mitochondrial disorder characterized by onset in the first months of life, cardiomyopathy, respiratory insufficiency, lactic acidosis, anemia, and variable impairment of mitochondrial respiratory complexes I, III, and IV. Death occurs in infancy. {ECO:0000269 PubMed:30283131}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GATC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GATC: view

No data available for Genatlas for GATC Gene

Publications for GATC Gene

  1. Biogenesis of glutaminyl-mt tRNAGln in human mitochondria. (PMID: 19805282) Nagao A … Suzuki T (Proceedings of the National Academy of Sciences of the United States of America 2009) 2 3 4
  2. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. (PMID: 30283131) Friederich MW … Van Hove JLK (Nature communications 2018) 4 74
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for GATC Gene

Sources for GATC Gene