Seroatlas · Human Serome Atlas

GATC

Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial

Also known as: 15E1.2, FLJ37000, GATC_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O43716
Gene: GATC
Ensembl: ENSG00000257218
Chromosome: 12
Canonical length: 136 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

Predicted to enable ATP binding activity and 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 42. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

136 residues, UniProt reviewed canonical sequence.

>O43716|GATC
     1  MWSRLVWLGL RAPLGGRQGF TSKADPQGSG RITAAVIEHL ERLALVDFGS REAVARLEKA
    61  IAFADRLRAV DTDGVEPMES VLEDRCLYLR SDNVVEGNCA DELLQNSHRV VEEYFVAPPG
   121  NISLPKLDEQ EPFPHS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GATC 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): 0.57
Highest tissue expression: 36 nTPM

Expression across tissuesHPA

Tissue

pancreas: 36 nTPM
liver: 15 nTPM
spinal cord: 15 nTPM
cerebellum: 15 nTPM
kidney: 14 nTPM
parathyroid gland: 12 nTPM

Single-cell type

pancreatic acinar cells: 32 nCPM
cardiomyocytes: 28 nCPM
ocular epithelial cells: 27 nCPM
erythrocyte progenitors: 26 nCPM
hepatic stellate cells: 26 nCPM
epicardial cells: 25 nCPM

Immune cell

basophil: 7 nTPM
memory B-cell: 6.2 nTPM
plasmacytoid DC: 6.2 nTPM
gdT-cell: 6 nTPM
MAIT T-cell: 5.9 nTPM
naive B-cell: 5.7 nTPM

Brain region

white matter: 24 nTPM
cerebellum: 24 nTPM
medulla oblongata: 20 nTPM
thalamus: 19 nTPM
pons: 19 nTPM
basal ganglia: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GATC.

Disease | AllUniProt

Conditions GATC is implicated in, by any mechanism.

Combined oxidative phosphorylation deficiency 42 (COXPD42) MIM:618839

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 35 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cardiomyopathy, mitochondrial
Combined oxidative phosphorylation deficiency 42

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): 1.7
gnomAD pLI: 0
gnomAD missense Z: 0.22
DepMap mean gene effect: -0.23
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

Glu-tRNAGln amidotransferase C subunit
Glu-tRNAGln amidotransferase superfamily, subunit C
Glu-tRNAGln amidotransferase C subunit

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

GATC 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 GATC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...