QRSL1
Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial
Also known as: DKFZP564C1278, FLJ10989, FLJ12189, FLJ13447, GatA, GATA_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H0R6
- Gene
- QRSL1
- Ensembl
- ENSG00000130348
- Chromosome
- 6
- Canonical length
- 528 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Vesicles,Centrosome
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 40. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
528 residues, UniProt reviewed canonical sequence.
>Q9H0R6|QRSL1
1 MLGRSLREVS AALKQGQITP TELCQKCLSL IKKTKFLNAY ITVSEEVALK QAEESEKRYK
61 NGQSLGDLDG IPIAVKDNFS TSGIETTCAS NMLKGYIPPY NATVVQKLLD QGALLMGKTN
121 LDEFAMGSGS TDGVFGPVKN PWSYSKQYRE KRKQNPHSEN EDSDWLITGG SSGGSAAAVS
181 AFTCYAALGS DTGGSTRNPA AHCGLVGFKP SYGLVSRHGL IPLVNSMDVP GILTRCVDDA
241 AIVLGALAGP DPRDSTTVHE PINKPFMLPS LADVSKLCIG IPKEYLVPEL SSEVQSLWSK
301 AADLFESEGA KVIEVSLPHT SYSIVCYHVL CTSEVASNMA RFDGLQYGHR CDIDVSTEAM
361 YAATRREGFN DVVRGRILSG NFFLLKENYE NYFVKAQKVR RLIANDFVNA FNSGVDVLLT
421 PTTLSEAVPY LEFIKEDNRT RSAQDDIFTQ AVNMAGLPAV SIPVALSNQG LPIGLQFIGR
481 AFCDQQLLTV AKWFEKQVQF PVIQLQELMD DCSAVLENEK LASVSLKQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against QRSL1 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)
- 0.22
- Highest tissue expression
- 20 nTPM
Expression across tissuesHPA
Tissue
- tongue: 20 nTPM
- skeletal muscle: 18 nTPM
- lymph node: 15 nTPM
- tonsil: 15 nTPM
- spleen: 9.9 nTPM
- heart muscle: 9.5 nTPM
Single-cell type
- b-cells: 95 nCPM
- myonuclei: 85 nCPM
- adrenal cortex cells: 60 nCPM
- breast lactating cells: 54 nCPM
- renal collecting duct intercalated cells: 48 nCPM
- choroid plexus epithelial cells: 48 nCPM
Immune cell
- memory B-cell: 87 nTPM
- naive B-cell: 71 nTPM
- non-classical monocyte: 13 nTPM
- myeloid DC: 11 nTPM
- intermediate monocyte: 9.6 nTPM
- plasmacytoid DC: 8.5 nTPM
Brain region
- white matter: 18 nTPM
- choroid plexus: 15 nTPM
- basal ganglia: 14 nTPM
- medulla oblongata: 14 nTPM
- pons: 13 nTPM
- cerebellum: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about QRSL1.
Disease | AllUniProt
Conditions QRSL1 is implicated in, by any mechanism.
- Combined oxidative phosphorylation deficiency 40 (COXPD40) MIM:618835
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 190 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Combined oxidative phosphorylation deficiency 40
- Cardiomyopathy, mitochondrial
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)
- 0.89
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.07
- DepMap mean gene effect
- -0.41
- 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
- glutaminyl-tRNAGln biosynthesis via transamidation
- mitochondrial translation
- regulation of protein stability
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Amidase signature domain
- Amidase signature (AS) superfamily
- Amidase
- Amidase
- Glutamyl-tRNA(Gln) amidotransferase A subunit
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of QRSL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads QRSL1 as an antibody target. Whether an autoantibody or antibody against QRSL1 could matter depends on whether native QRSL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
QRSL1 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 QRSL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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