2. Gene
  3. QRSL1 - glutaminyl-tRNA amidotransferase subunit QRSL1 Gene

QRSL1 - glutaminyl-tRNA amidotransferase subunit QRSL1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as GatA; COXPD40

Gene ID: 55278 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Amidase: Amidase (23 - 488)

  • 0
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  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11507 QRSL1 Human Pre-designed siRNA Set A Pre-designed Sets / 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