QRSL1

Chr 6q21

glutaminyl-tRNA amidotransferase subunit QRSL1

Aliases:: GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447
MANE:: ENST00000369046.8

OMIM: 617209 ↗NCBI: 55278 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

QRSL1 · Q9H0R6

v62025-08-01

Predicted Aligned Error matrix for QRSL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.5/ 100

Very high

528 residues

Confidence breakdown

Very high(≥ 90)90%
Confident(70–90)3%
Low(50–70)3%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

combined oxidative phosphorylation deficiency 40
0.75
neurodegenerative disease
0.46
vascular disorder
0.35
hereditary disease
0.19
Short stature
0.12
Macrocephaly
0.12
Global developmental delay
0.12
Chorea
0.12
gout
0.12
neuroblastoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial

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)