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
  • PET112L 3 4
  • PET112 3 4
  • Cytochrome Oxidase Assembly Factor PET112 Homolog 3
  • PET112 (Yeast Homolog)-Like 2
  • Glu-AdT Subunit B 4
  • PET112 Homolog 3
  • EC 6.3.5.- 4
  • EC 6.3.5 50
  • COXPD41 3
  • HSPC199 3
  • GATB 5

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 Combined Oxidative Phosphorylation Deficiency 41 and Chromosome 6Q24-Q25 Deletion Syndrome. Among its related pathways are tRNA Aminoacylation and Metabolism. 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).

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 Pubs

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 270.3 +0.2 206 2 BCLAF1 ZNF207 MYC IKZF1 SIX5 ZNF580 POLR2A ZIC2 YY1 MXD4 GATB RPS3A MIR4453HG piR-55648-065 FHIP1A
GH04J151687 Enhancer 0.8 Ensembl ENCODE dbSUPER 20.4 +70.7 70688 7 JUND MAFF ZNF316 MAFK GATA2 POLR2A EP300 GATB ENSG00000251455 lnc-SH3D19-9 piR-55648-065 FHIP1A
GH04J151742 Enhancer 1.1 Ensembl ENCODE 14.8 +16.5 16501 4 MYC NCOR1 IKZF1 ZNF600 JUND ZNF592 ATF2 ZIC2 BCL11A FEZF1 GATB piR-55648-065 FHIP1A
GH04J151806 Enhancer 0.9 Ensembl ENCODE 16.5 -46.4 -46376 2.8 ZNF10 NFIC CEBPB FEZF1 EP300 STAT3 ZNF843 TCF7L2 KLF16 PRDM6 GATB TIGD4 piR-37656-198 HSALNG0037867 LOC105377488 FBXW7
GH04J151539 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.4 +220.9 220906 5.4 ZNF600 JUND ZNF580 ZNF10 CEBPB FEZF1 ZNF639 MAX ZNF217 ZNF513 GATB SH3D19 ENSG00000270681 piR-42700-103 RN7SKP35 FHIP1A lnc-FAM160A1-8
- 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 the GeneHancer Hub at the UCSC Golden Path

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

Genomic Locations for GATB Gene

Latest Assembly
chr4:151,670,504-151,761,007
(GRCh38/hg38)
Size:
90,504 bases
Orientation:
Minus strand

Previous Assembly
chr4:152,591,656-152,682,159
(GRCh37/hg19 by Entrez Gene)
Size:
90,504 bases
Orientation:
Minus strand

chr4:152,591,656-152,682,175
(GRCh37/hg19 by Ensembl)
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={ECO:0000255|HAMAP-Rule:MF_03147};.

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:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 19805282
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with GATB: view
genes like me logo Genes that share phenotypes with GATB: view

Human Phenotype Ontology for GATB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for GATB Gene

miRTarBase miRNAs that target GATB

Inhibitory RNAs for research

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

No data available for 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,IMP 30283131
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 IEA,IMP 19805282
GO:0070681 glutaminyl-tRNAGln biosynthesis via transamidation IEA,IDA 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
L-Glutamine Approved, Investigational Nutra Enzyme, substrate 0
Glutamic acid Approved Nutra 324
Phosphate Experimental Pharma 0
ATP Investigational Nutra 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
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 :

Inhibitory RNAs for research

  • 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

  • Blood(4.3)
  • Kidney(4.3)
  • Nervous system(3.8)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with GATB: 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 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 29 30
  • 99.88 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PET112 29 30
  • 87.29 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pet112 29 30
  • 86.12 (n)
OneToOne
Gatb 16
Rat
(Rattus norvegicus)
Mammalia Pet112l 29
  • 84.74 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PET112 30
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PET112 30
  • 77 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PET112L 30
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PET112 29 30
  • 72.61 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PET112 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pet112 29
  • 66.8 (n)
Zebrafish
(Danio rerio)
Actinopterygii pet112 29 30
  • 65.86 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5463 29 30
  • 52.04 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003454 29
  • 49.44 (n)
Worm
(Caenorhabditis elegans)
Secernentea C39B5.6 30
  • 32 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL303W 29
  • 48.07 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PET112 29 30 32
  • 45.88 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E20659g 29
  • 45.11 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons GATB 29
  • 47.56 (n)
Rice
(Oryza sativa)
Liliopsida Os11g0544800 29
  • 46.59 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 55 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC343.13 29
  • 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for GATB

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
rs148150389 Benign: not provided 151,701,381(-) T/C
NM_004564.3(GATB):c.1145A>G (p.Glu382Gly)
MISSENSE
rs376766195 Pathogenic: Combined oxidative phosphorylation deficiency 41; Cardiomyopathy, mitochondrial 151,719,458(-) A/C
NM_004564.3(GATB):c.408T>G (p.Phe136Leu)
MISSENSE
rs565910322 Pathogenic: Combined oxidative phosphorylation deficiency 41; Cardiomyopathy, mitochondrial 151,716,934(-) ACT/A
NM_004564.3(GATB):c.580_581del (p.Ser194fs)
FRAMESHIFT
VAR_083986 Combined oxidative phosphorylation deficiency 41 (COXPD41) [MIM:618838] p.Phe136Leu
rs11556167 -- p.Ala30Asp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GATB 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 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
Leiden Open Variation Database (LOVD)
GATB

SNP Genotyping and Copy Number Assays for research

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

Disorders for GATB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 41
  • coxpd41
chromosome 6q24-q25 deletion syndrome
  • chromosome 6q25-q25 deletion syndrome
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search GATB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GATB_HUMAN
  • Combined oxidative phosphorylation deficiency 41 (COXPD41) [MIM:618838]: An autosomal recessive mitochondrial disorder characterized by prenatal onset, fetal hydrops, intrauterine growth retardation, hypertrophic cardiomyopathy, respiratory insufficiency, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in the perinatal period. {ECO:0000269 PubMed:30283131}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for GATB

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

No data available for Genatlas for GATB Gene

Publications for GATB Gene

  1. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. (PMID: 30283131) Friederich MW … Van Hove JLK (Nature communications 2018) 3 4 72
  2. 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
  3. 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
  4. 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
  5. Unbiased Profiling of the Human Proinsulin Biosynthetic Interaction Network Reveals a Role for Peroxiredoxin 4 in Proinsulin Folding. (PMID: 32457219) Tran DT … Itkin-Ansari P (Diabetes 2020) 3

Products for GATB Gene

Sources for GATB Gene