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Aliases for GATC Gene

Aliases for GATC Gene

  • Glutamyl-TRNA Amidotransferase Subunit C 2 3 5
  • Glutamyl-TRNA(Gln) Amidotransferase Subunit C, Mitochondrial 3 4
  • Glu-AdT Subunit C 3 4
  • 15E1.2 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

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. Among its related pathways are Metabolism and tRNA Aminoacylation. 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 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).

Additional gene information for GATC Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GATC Gene

Genomics for GATC Gene

GeneHancer (GH) Regulatory Elements for GATC Gene

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 600.7 0.0 -37 2.8 SP1 CC2D1A ZFX ELF3 MNT SIX5 ZNF148 NKRF POLR2A MLLT1 GATC TRIAP1 COQ5 RPL31P52 ANAPC5 GCN1 RPLP0 SPPL3 P2RX4 GC12P120439
GH12J120459 Promoter 0.7 EPDnew 600.4 +13.5 13524 0.1 POLR2A SUPT5H GATC GC12M120462 GC12M120451 ENSG00000111780
GH12J120467 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 27.6 +22.9 22927 3.3 ZNF652 ZFX SP1 ELF3 CTCF MNT ZNF148 NKRF POLR2A GTF2F1 SRSF9 DYNLL1 COQ5 GCN1 GATC RPLP0 MSI1 RAB35 GC12M120462
GH12J120533 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 26.7 +90.9 90932 7.3 MTA3 SP1 ZFX CC2D1A ELF3 ZKSCAN8 SIX5 CBFA2T2 ZNF148 NKRF RNF10 GC12P120535 COQ5 GATC POP5 RPL31P52 TRIAP1 ENSG00000111780 SPPL3 ACADS
GH12J120580 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 26.6 +136.3 136263 5 HDGF SP1 CTCF NKRF POLR2A MLLT1 ZNF121 GTF2F1 ZNF384 ZSCAN21 POP5 COQ5 GATC HNF1A-AS1 MLEC UNC119B C12orf43 ACADS ENSG00000256569 OASL
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for GATC Gene
chr12:120,446,438-120,463,753
(GRCh38/hg38)
Size:
17,316 bases
Orientation:
Plus strand
chr12:120,884,241-120,901,556
(GRCh37/hg19)
Size:
17,316 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

ENSEMBL proteins:
REFSEQ proteins:

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

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=. ;.

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: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 --
GO:0050567 glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity IEA,IDA 19805282
genes like me logo Genes that share ontologies with GATC: view
genes like me logo Genes that share phenotypes with GATC: view

Animal Models for GATC Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for GATC - Now 50% OFF >
  • * GATC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GATC tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Human Phenotype Ontology , 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

Gene Ontology (GO) - Cellular Components for GATC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 19805282
GO:0030956 glutamyl-tRNA(Gln) amidotransferase complex IDA,IEA 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 IMP 19805282
GO:0070681 glutaminyl-tRNAGln biosynthesis via transamidation IEA,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
Phosphoric acid Approved Pharma 0
Glutamic Acid Approved Nutra Full agonist, Agonist 272
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 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
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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) Additional mRNA sequences :
(841) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for GATC Gene

Glutamyl-tRNA(Gln) amidotransferase, subunit C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for GATC - Now 50% OFF >
  • * GATC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GATC tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

No ASD Table

Relevant External Links for GATC Gene

GeneLoc Exon Structure for
GATC
ECgene alternative splicing isoforms for
GATC

Expression for GATC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of GATC Gene:

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

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 34 35
  • 99.01 (n)
cow
(Bos Taurus)
Mammalia GATC 34 35
  • 85.93 (n)
dog
(Canis familiaris)
Mammalia GATC 35 34
  • 85.29 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gatc 34
  • 78.22 (n)
mouse
(Mus musculus)
Mammalia Gatc 17 34 35
  • 78.03 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 63 (a)
OneToMany
chicken
(Gallus gallus)
Aves GATC 34
  • 64.41 (n)
-- 35
  • 45 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gatc 34
  • 61.28 (n)
zebrafish
(Danio rerio)
Actinopterygii si:rp71-1c23.3 34
  • 63.4 (n)
GATC 35
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013093 34
  • 53.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG33649 34 35
  • 48.63 (n)
worm
(Caenorhabditis elegans)
Secernentea Y66D12A.7 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for GATC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 from dbSNP and Humsavar for GATC Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1131691323 uncertain-significance, not specified 120,457,131(+) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000029821 -- 120,457,848(+) C/T intron_variant
rs1000354719 -- 120,451,717(+) G/A intron_variant
rs1000760678 -- 120,447,486(+) C/A/T intron_variant
rs1000818702 -- 120,447,203(+) G/A intron_variant

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 Assay Products

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

Disorders for GATC Gene

Additional Disease Information for GATC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GATC Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and 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 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 58
  3. 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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for GATC Gene

Sources for GATC Gene

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