GATC Gene Summary [Human]

Enables 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, Apr 2022]

Details

Type
Nonsense Mediated Decay
Official Symbol
GATC
Official Name
glutamyl-tRNA amidotransferase subunit C [Source:HGNC Symbol;Acc:HGNC:25068]
Ensembl ID
ENSG00000257218
Bio databases IDs NCBI: 283459 Ensembl: ENSG00000257218
Aliases glutamyl-tRNA amidotransferase subunit C
Synonyms 15E1.2, 2010003O18Rik, COXPD42, glutamyl-tRNA amidotransferase subunit C, LOC100909836, RGD1309698
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GATC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • enzyme
  • protein binding
  • Asp-tRNA(Asn)/Glu-tRNA(Gln) amidotransferase subunit GatC
  • Glu-tRNAGln amidotransferase C subunit
  • aspartyl/glutamyl-tRNA(Asn/Gln) amidotransferase, C subunit

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • combined oxidative phosphorylation deficiency 42
  • idiopathic scoliosis
  • insulin resistance
  • mitochondrial cardiomyopathy
regulated by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • Mitochondria

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human GATC gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of translational fidelity
  • glutaminyl-tRNAGln biosynthesis via transamidation
  • mitochondrial translation

Cellular Component

Where in the cell the gene product is active
  • glutamyl-tRNA(Gln) amidotransferase complex
  • mitochondrion

Molecular Function

What the gene product does at the molecular level
  • ATP binding
  • protein binding
  • glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.