QRSL1 - glutaminyl-tRNA amidotransferase subunit QRSL1 Gene

Also Known as GatA; COXPD40

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55278

About QRSL1

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:106,629,578-106,668,417 (from NCBI)

This gene has 3 transcripts (splice variants), 210 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 7.2), thyroid (RPKM 5.6) 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 40. [provided by Alliance of Genome Resources, Apr 2022]

QRSL1 Products (1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity	IDA IDA: Inferred from direct assay	19805282	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19805282	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glutaminyl-tRNAGln biosynthesis via transamidation	IDA IDA: Inferred from direct assay	19805282	GOA
involved in mitochondrial translation	IMP IMP: Inferred from mutant phenotype	19805282	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of glutamyl-tRNA(Gln) amidotransferase complex	IDA IDA: Inferred from direct assay	19805282	GOA
part of glutamyl-tRNA(Gln) amidotransferase complex	IPI IPI: Inferred from physical interaction	19805282	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	19805282	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

QRSL1 Protein Structure

Amidase

0
100
200
300
400
500
528 a.a.

Protein Preferred Names	Protein Names
glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial	QRSL1, glutaminyl-tRNA amidotransferase subunit A

QRSL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	QRSL1	Q9H0R6	GATB	Homo sapiens	O75879	Anti Tag CoIP	33961781
Intra	QRSL1	Q9H0R6	GATB	Homo sapiens	O75879	GMS	19805282
Intra	QRSL1	Q9H0R6	GATB	Homo sapiens	O75879	Anti Tag CoIP	28514442
Intra	QRSL1	Q9H0R6	GATC	Homo sapiens	O43716	GMS	19805282

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 40	COXPD40 Qrsl1-Related Coxpd Qrsl1-Related Combined Oxidative Phosphorylation Defect
Combined Oxidative Phosphorylation Deficiency
Ornithosis	Psittacosis Chlamydial Pneumonia Chlamydia Psittaci Infection Chlamydia Psittaci
Hypoparathyroidism-Deafness-Renal Disease Syndrome	Barakat Syndrome Hypoparathyroidism, Deafness, Renal Disease Syndrome Hdr Syndrome Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Lymphogranuloma Venereum	Climatic Or Tropical Bubo Durand-Nicolas-Favre Disease Lymphogranuloma Inguinale Poradenitis Inguinale Strumous Bubo Lgv
Granuloma Inguinale	Donovanosis Pudendal Ulcer Granuloma Inguinale Tropicum Granuloma Pudendi Tropicum
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Glycerol Kinase Deficiency	Hyperglycerolemia GKD Gk Deficiency Gk1 Deficiency Deficiency Of Glycerol Kinase Isolated Glycerol Kinase Deficiency Glycerol Kinase Deficiency, Adult Form Glycerol Kinase Deficiency, Juvenile Form Deficiency, Glycerol Kinase
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11507	QRSL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22757	Qrsl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29271	Qrsl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	QRSL1	VGNC	VGNC:56807
Rattus norvegicus	QRSL1	RGD	RGD:1359490
Felis catus	QRSL1	VGNC	VGNC:64460
Macaca mulatta	QRSL1	VGNC	VGNC:83455
Mus musculus	QRSL1	MGD	MGI:1923813
Others	QRSL1	NCBI