Seroatlas · Human Serome Atlas

GATB

Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial

Also known as: GATB_HUMAN, PET112, PET112L

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O75879
Gene
GATB
Ensembl
ENSG00000059691
Chromosome
4
Canonical length
557 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Mitochondria

OverviewNCBI Gene

Contributes to 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 41. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

557 residues, UniProt reviewed canonical sequence.

>O75879|GATB
     1  MAAPMLRWGC RGRRWAFARV DGGSCHRRGA PTGSTSNQIR GESSVAQQPL HTAQKTRKGE
    61  HKWAAVVGLE IHAQISSNSK LFSGSQVRFS APPNSLVSFF DASLPGTLPV LNRRCVEAAV
   121  MTGLALNCHI NKKSLFDRKH YFYADLPAGY QITQQRLPIA VNGSLIYGVC AGKKQSQVIP
   181  KTVRIKQIQL EQDSGKSLHD NLRSQTLIDL NRAGVGLLEV VLEPDMSCGE EAATAVRELQ
   241  LILQALGTSQ ANMAEGQLRV DANISVHHPG EPLGVRTEVK NLNSIRFLAK AIDYEIQRQI
   301  NELENGGEIL NETRSFHHKL GCTMSMRDKE GKQDYRFMPE PNLPPLVLYD ATSLPAGADP
   361  QQVINIDQIR ETLPELPSVT REKLVQQYGM LLEHSFTLLN EVGLLEFFQN VIKETRAEPK
   421  KVTSWVLNTF LGYLKQQNLA VSESPVTPSA LAELLDLLDS RTISSSAAKQ VFEELWKREG
   481  KTPGQIVSEK QLELMQDQGA LEQLCHSVME AHPQVVMDVK NRNPRAINKL IGLVRKATQS
   541  RADPVMIKEI LEKKLSL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GATB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
38 nTPM

Expression across tissuesHPA

Tissue

  • tongue: 38 nTPM
  • heart muscle: 31 nTPM
  • spinal cord: 25 nTPM
  • skeletal muscle: 22 nTPM
  • liver: 21 nTPM
  • kidney: 20 nTPM

Single-cell type

  • müller glia: 421 nCPM
  • esophageal apical cells: 54 nCPM
  • oligodendrocytes: 37 nCPM
  • cytotrophoblasts: 36 nCPM
  • myonuclei: 34 nCPM
  • erythrocyte progenitors: 33 nCPM

Immune cell

  • myeloid DC: 21 nTPM
  • intermediate monocyte: 17 nTPM
  • non-classical monocyte: 12 nTPM
  • classical monocyte: 12 nTPM
  • memory B-cell: 12 nTPM
  • total PBMC: 11 nTPM

Brain region

  • white matter: 25 nTPM
  • cerebellum: 21 nTPM
  • spinal cord: 20 nTPM
  • medulla oblongata: 20 nTPM
  • cerebral cortex: 19 nTPM
  • basal ganglia: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GATB.

Disease | AllUniProt

Conditions GATB is implicated in, by any mechanism.

  • Combined oxidative phosphorylation deficiency 41 (COXPD41) MIM:618838

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 149 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.99
gnomAD pLI
0
DepMap mean gene effect
-0.32
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Glutamine synthetase/guanido kinase, catalytic domain
  • Aspartyl/glutamyl-tRNA amidotransferase subunit B-like
  • Aspartyl/glutamyl-tRNA(Asn/Gln) amidotransferase subunit B
  • Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic
  • Glutamyl-tRNA(Gln) amidotransferase, subunit B, conserved site
  • Aspartyl/glutamyl-tRNA(Asn/Gln) amidotransferase, subunit B /E
  • Asn/Gln amidotransferase
  • Aspartyl/glutamyl-tRNA(Asn/Gln) amidotransferase, C-terminal, domain 2
  • GatB domain
  • GatB/GatE catalytic domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GATB as an antibody target. Whether an autoantibody or antibody against GATB could matter depends on whether native GATB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GATB is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GATB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GATB. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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