QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: QRSL1provided by HGNC
Official Full Name: glutaminyl-tRNA amidotransferase subunit QRSL1provided by HGNC
Primary source: HGNC:HGNC:21020
See related: Ensembl:ENSG00000130348 MIM:617209; AllianceGenome:HGNC:21020
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GatA; COXPD40
Summary: 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, Nov 2024]
Expression: Ubiquitous expression in lymph node (RPKM 7.2), thyroid (RPKM 5.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q21

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (106629578..106668417)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (107806065..107844870)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (107077453..107116292)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Homozygous intronic variant (c.850-3A > G) in the QRSL1 was identified in a child with cardiomyopathy with early-onset brain disease.
Title: Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB.
Title: Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined oxidative phosphorylation deficiency 40 MedGen: C5394232 OMIM: 618835 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11857 (e-PCR)
- UniSTS:90883

RH120076 (e-PCR)
- UniSTS:133399

D8S2279 (e-PCR)
- UniSTS:473907

A009V02 (e-PCR)
- UniSTS:77198

WI-17036 (e-PCR)
- UniSTS:7311

D11S3114 (e-PCR)
- UniSTS:152207

STS-Z40982 (e-PCR)
- UniSTS:64179

G32865 (e-PCR)
- UniSTS:117444

RH46714 (e-PCR)
- UniSTS:24061

Clone Names

FLJ10989, FLJ12189, FLJ13447, DKFZp564C1278

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
contributes_to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in glutaminyl-tRNAGln biosynthesis via transamidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in glutaminyl-tRNAGln biosynthesis via transamidation	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein stability	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of glutamyl-tRNA(Gln) amidotransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of glutamyl-tRNA(Gln) amidotransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of glutamyl-tRNA(Gln) amidotransferase complex	IPI Inferred from Physical Interaction more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial

Names: QRSL1, glutaminyl-tRNA amidotransferase subunit A; glu-AdT subunit A; glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1; glutaminyl-tRNA synthase-like protein 1; glutamyl-tRNA(Gln) amidotransferase subunit A homolog; glutamyl-tRNA(Gln) amidotransferase, subunit A

NP_060762.3

EC 6.3.5.7

XP_011534226.1

EC 6.3.5.7

XP_054211756.1

EC 6.3.5.7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_018292.5 → NP_060762.3 glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial

See identical proteins and their annotated locations for NP_060762.3

Status: VALIDATED

Source sequence(s)

AL390074, BC014389, DA819470

Consensus CDS

CCDS5057.1

UniProtKB/Swiss-Prot

Q5VWJ4, Q9H0R6, Q9HA60, Q9NV19

UniProtKB/TrEMBL

B2RBJ8

Related

ENSP00000358042.4, ENST00000369046.8

Conserved Domains (1) summary

PRK00012
Location:13 → 495

gatA; aspartyl/glutamyl-tRNA amidotransferase subunit A; Reviewed

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

106629578..106668417

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011535924.3 → XP_011534226.1 glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_011534226.1

UniProtKB/TrEMBL

B2RBJ8

Conserved Domains (1) summary

PRK00012
Location:1 → 404

gatA; Asp-tRNA(Asn)/Glu-tRNA(Gln) amidotransferase subunit GatA