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QRSL1 (Glutaminyl-TRNA Amidotransferase Subunit QRSL1) is a Protein Coding gene. Diseases associated with QRSL1 include Combined Oxidative Phosphorylation Deficiency 40 and Qrsl1-Related Combined Oxidative Phosphorylation Defect. Among its related pathways are Metabolism and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include carbon-nitrogen ligase activity, with glutamine as amido-N-donor and glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. An important paralog of this gene is FAAH.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004040 | amidase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 19805282 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016874 | ligase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA,IDA | 19805282 |
GO:0030956 | glutamyl-tRNA(Gln) amidotransferase complex | IBA,IDA | 19805282 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA Aminoacylation | ||
2 | Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006412 | translation | IEA | -- |
GO:0031647 | regulation of protein stability | IEA | -- |
GO:0032543 | mitochondrial translation | IBA,IMP | 19805282 |
GO:0070681 | glutaminyl-tRNAGln biosynthesis via transamidation | IBA,IDA | 19805282 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phosphoric acid | Approved | Pharma | 0 | |||
Glutamic acid | Approved | Nutra | Agonist, Full agonist | 304 | ||
L-Glutamine | Approved, Investigational | Nutra | Agonist, Full agonist | 0 | ||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | QRSL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | QRSL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | QRSL1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Qrsl1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Qrsl1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | QRSL1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | QRSL1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | QRSL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | QRSL1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | qrsl1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | qrsl1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | qrsl1 30 31 |
|
OneToOne | |
Dr.12246 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004057 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | gatA 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | Y41D4A.6 30 31 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A09845g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HER2 30 31 33 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABR140C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G25660 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC646.03 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00660 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.13009 30 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
720366 | Benign: not provided | 106,640,893(+) | G/A | SYNONYMOUS_VARIANT | |
834718 | Pathogenic: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 | 106,643,060(+) | G/A | MISSENSE_VARIANT | |
834719 | Pathogenic: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 | 106,654,727(+) | A/G | INTRON_VARIANT | |
rs1562168768 | Pathogenic: Cardiomyopathy, mitochondrial; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 | 106,649,042(+) | G/T | MISSENSE_VARIANT | |
rs1562169661 | Pathogenic: Cardiomyopathy, mitochondrial | 106,652,238(+) | CCAGAAATCC/ACAAA | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3610281 | CNV | loss | 21293372 |
nsv1114860 | CNV | deletion | 24896259 |
nsv1124109 | CNV | deletion | 24896259 |
nsv1142470 | CNV | tandem duplication | 24896259 |
nsv516902 | CNV | loss | 19592680 |
nsv970157 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
combined oxidative phosphorylation deficiency 40 |
|
|
qrsl1-related combined oxidative phosphorylation defect |
|
|
ornithosis |
|
|
lymphogranuloma venereum |
|
|
granuloma inguinale |
|
|