1. Gene
  2. GATC - glutamyl-tRNA amidotransferase subunit C Gene

GATC - glutamyl-tRNA amidotransferase subunit C Gene

Homo sapiens

Also known as 15E1.2; COXPD42

Gene ID: 283459 | Gene type: protein coding

About GATC

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:120,446,444-120,463,749 (from NCBI)

This gene has 3 transcripts (splice variants), 194 orthologues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 15.5), lymph node (RPKM 14.0) and 25 other tissues.

Summary

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]

GATC Products(1)

mRNA Protein Name
NM_176818.3 NP_789788.1 glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial

GATC Protein Structure

Glu-tRNAGln

Glu-tRNAGln: Glu-tRNAGln amidotransferase C subunit (52 - 116)

  • 0
  • 100
  • 136 a.a.
Protein Preferred Names Protein Names

glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial

glu-AdT subunit C

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 42

COXPD42

Combined Oxidative Phosphorylation Deficiency
Wound Botulism

Cutaneous Infectious Botulism

Cutaneous Toxin-Mediated Botulism

Inoculation Botulism

Skin Infectious Botulism

Skin Toxin-Mediated Botulism

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus GATC MGD MGI:1923776
Rattus norvegicus GATC RGD RGD:1309698