Aliases for GATB Gene

Aliases for GATB Gene

  • Glutamyl-TRNA Amidotransferase Subunit B 2 3 5
  • Glutamyl-TRNA(Gln) Amidotransferase Subunit B, Mitochondrial 3 4
  • Cytochrome C Oxidase Assembly Factor PET112 Homolog 3 4
  • Glutamyl-TRNA(Gln) Amidotransferase, Subunit B 2 3
  • Glu-AdT Subunit B 3 4
  • PET112L 3 4
  • PET112 3 4
  • Cytochrome Oxidase Assembly Factor PET112 Homolog 3
  • PET112 (Yeast Homolog)-Like 2
  • PET112 Homolog 3
  • EC 6.3.5.- 4
  • EC 6.3.5 52
  • HSPC199 3

External Ids for GATB Gene

Previous HGNC Symbols for GATB Gene

  • PET112L
  • PET112

Summaries for GATB Gene

GeneCards Summary for GATB Gene

GATB (Glutamyl-TRNA Amidotransferase Subunit B) is a Protein Coding gene. Diseases associated with GATB include Bejel and Filarial Elephantiasis. Among its related pathways are Metabolism and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include ligase activity and translation factor activity, RNA binding.

UniProtKB/Swiss-Prot Summary for GATB 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 GATB Gene

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

Genomics for GATB Gene

GeneHancer (GH) Regulatory Elements for GATB Gene

Promoters and enhancers for GATB 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
GH04J151760 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 520.3 +0.2 223 2 FOXK2 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C TCF12 SIN3A USF1 POLR2G GATB piR-55648-065
GH04J151687 Enhancer 0.9 Ensembl ENCODE dbSUPER 20.4 +70.7 70704 7 JUND ZNF316 MAFF GATA3 MAFK RCOR1 GATA2 POLR2A CTCF GATB ENSG00000251455 lnc-SH3D19-9 piR-55648-065
GH04J151742 Enhancer 1.1 Ensembl ENCODE 14.8 +16.0 15981 5.1 JUND FOS ZNF639 EP300 ZIC2 MYC CTBP1 JUN ATF2 TAF9B GATB piR-55648-065
GH04J151675 Promoter/Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 14 +85.4 85374 2.7 JUND FOS MXI1 CTCF RAD21 GATA1 ENSG00000251455 lnc-SH3D19-9 GATB
GH04J151806 Enhancer 0.9 Ensembl ENCODE 16.5 -46.0 -45978 3.6 FOS ZNF10 TRIM28 EP300 OSR2 BCL11A NFIC ZNF184 CEBPB KLF8 GATB TIGD4 ENSG00000249184-001 piR-37656-198
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GATB on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for GATB Gene

Genomic Locations for GATB Gene
chr4:151,670,052-151,761,023
(GRCh38/hg38)
Size:
90,972 bases
Orientation:
Minus strand
chr4:152,591,656-152,682,175
(GRCh37/hg19)
Size:
90,520 bases
Orientation:
Minus strand

Genomic View for GATB Gene

Genes around GATB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GATB Gene

Proteins for GATB Gene

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

    Protein Symbol:
    O75879-GATB_HUMAN
    Recommended name:
    Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial
    Protein Accession:
    O75879
    Secondary Accessions:
    • Q4W5M8
    • Q53GP4
    • Q9P0S6
    • Q9Y2B8

    Protein attributes for GATB Gene

    Size:
    557 amino acids
    Molecular mass:
    61864 Da
    Quaternary structure:
    • Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (GATB) and C (GATC) subunits.
    SequenceCaution:
    • Sequence=AAF36119.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for GATB Gene

Selected DME Specific Peptides for GATB Gene

O75879:
  • GLEIHAQ
  • DLPAGYQI
  • PGTLPVLN
  • SNSKLFS
  • YFYADLP
  • IDLNRAG

Post-translational modifications for GATB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for GATB Gene

Gene Families for GATB Gene

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

Suggested Antigen Peptide Sequences for GATB Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54219, highly similar to Probable glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial (EC 6.3.5.-) (B4E0P2_HUMAN)
  • PET112-like (GATB_HUMAN)
  • cDNA, FLJ93413, Homo sapiens PET112-like (yeast) (PET112L), mRNA (Q4W5M8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75879

UniProtKB/Swiss-Prot:

GATB_HUMAN :
  • Belongs to the GatB/GatE family. GatB subfamily.
Family:
  • Belongs to the GatB/GatE family. GatB subfamily.
genes like me logo Genes that share domains with GATB: view

Function for GATB Gene

Molecular function for GATB 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 GATB Gene

Phenotypes From GWAS Catalog for GATB Gene

Gene Ontology (GO) - Molecular Function for GATB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 19805282
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with GATB: view
genes like me logo Genes that share phenotypes with GATB: view

Animal Model Products

CRISPR Products

miRNA for GATB Gene

miRTarBase miRNAs that target GATB

Inhibitory RNA Products

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

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GATB Gene

Localization for GATB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATB 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 GATB gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GATB Gene

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

Pathways & Interactions for GATB Gene

PathCards logo

SuperPathways for GATB Gene

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

Pathways by source for GATB Gene

2 KEGG pathways for GATB Gene

Gene Ontology (GO) - Biological Process for GATB Gene

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

No data available for SIGNOR curated interactions for GATB Gene

Drugs & Compounds for GATB Gene

(4) Drugs for GATB Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Full agonist, Agonist, Target 289
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Phosphoric acid Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for GATB 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 GATB: view

Transcripts for GATB Gene

mRNA/cDNA for GATB Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b · 13c · 13d · 13e
SP1: - - - - -
SP2: - - - - -
SP3:
SP4: - - -
SP5: - -
SP6:

Relevant External Links for GATB Gene

GeneLoc Exon Structure for
GATB

Expression for GATB Gene

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

Protein differential expression in normal tissues from HIPED for GATB Gene

This gene is overexpressed in Liver (13.9), Lymph node (11.3), and Lung (9.2).

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



Protein tissue co-expression partners for GATB Gene

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

mRNA Expression by UniProt/SwissProt for GATB Gene:

O75879-GATB_HUMAN
Tissue specificity: Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle and heart.

Evidence on tissue expression from TISSUES for GATB Gene

  • Kidney(4.3)
  • Blood(4.1)
  • Nervous system(3.7)
genes like me logo Genes that share expression patterns with GATB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GATB Gene

Orthologs for GATB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GATB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PET112 31 30
  • 99.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PET112 31 30
  • 87.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pet112 31 30
  • 86.12 (n)
OneToOne
Gatb 17
rat
(Rattus norvegicus)
Mammalia Pet112l 30
  • 84.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PET112 31
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PET112 31
  • 77 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PET112L 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PET112 31 30
  • 72.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PET112 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pet112 30
  • 66.8 (n)
zebrafish
(Danio rerio)
Actinopterygii pet112 31 30
  • 65.86 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5463 31 30
  • 52.04 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003454 30
  • 49.44 (n)
worm
(Caenorhabditis elegans)
Secernentea C39B5.6 31
  • 32 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL303W 30
  • 48.07 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PET112 33 31 30
  • 45.88 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E20659g 30
  • 45.11 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GATB 30
  • 47.56 (n)
rice
(Oryza sativa)
Liliopsida Os11g0544800 30
  • 46.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC343.13 30
  • 44.83 (n)
Species where no ortholog for GATB was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GATB Gene

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

Paralogs for GATB Gene

No data available for Paralogs for GATB Gene

Variants for GATB Gene

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

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
559411 Pathogenic: Cardiomyopathy, mitochondrial 151,716,934(-) ACT/A FRAMESHIFT_VARIANT
559412 Pathogenic: Cardiomyopathy, mitochondrial 151,719,458(-) A/C MISSENSE_VARIANT
rs11556167 - p.Ala30Asp

Additional dbSNP identifiers (rs#s) for GATB Gene

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

Variant ID Type Subtype PubMed ID
esv22209 CNV loss 19812545
esv996950 CNV gain 20482838
nsv1026511 CNV gain 25217958
nsv1028814 CNV gain 25217958
nsv1109647 CNV deletion 24896259
nsv4551 CNV deletion 18451855
nsv4552 CNV deletion 18451855
nsv508322 CNV deletion 20534489

Variation tolerance for GATB Gene

Residual Variation Intolerance Score: 63.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.93; 74.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GATB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GATB Gene

MalaCards: The human disease database

(4) MalaCards diseases for GATB Gene - From: DISEASES

Disorder Aliases PubMed IDs
bejel
  • njovera
filarial elephantiasis
  • filariasis
chromosome 6q24-q25 deletion syndrome
  • chromosome 6q25-q25 deletion syndrome
ciliary dyskinesia, primary, 1
  • pcd
- elite association - COSMIC cancer census association via MalaCards
Search GATB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GATB

genes like me logo Genes that share disorders with GATB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GATB Gene

Publications for GATB 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 54
  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. (PMID: 9878253) Petruzzella V … Zeviani M (Genomics 1998) 2 3 4 54
  3. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4 54
  4. Mapping the Genetic Landscape of Human Cells. (PMID: 30033366) Horlbeck MA … Gilbert LA (Cell 2018) 3 54
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54

Products for GATB Gene

Sources for GATB Gene