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Aliases for QRSL1 Gene
Aliases for QRSL1 Gene
- Glutaminyl-TRNA Amidotransferase Subunit QRSL1 2 3 5
- Glutamyl-TRNA(Gln) Amidotransferase Subunit A, Mitochondrial 3 4
- Glutaminyl-TRNA Synthase (Glutamine-Hydrolyzing)-Like 1 2 3
- QRSL1, Glutaminyl-TRNA Amidotransferase Subunit A 2 3
- Glutamyl-TRNA(Gln) Amidotransferase, Subunit A 2 3
- Glutaminyl-TRNA Synthase-Like Protein 1 3 4
- Glu-AdT Subunit A 3 4
- GatA 2 3
External Ids for QRSL1 Gene
- HGNC: 21020
- Entrez Gene: 55278
- Ensembl: ENSG00000130348
- OMIM: 617209
- UniProtKB: Q9H0R6
Previous GeneCards Identifiers for QRSL1 Gene
- GC06P107077
- GC06P107123
- GC06P107185
- GC06P104524
Summaries for QRSL1 Gene
GeneCards Summary for QRSL1 Gene
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.
UniProtKB/Swiss-Prot Summary for QRSL1 Gene
-
Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).
Additional gene information for QRSL1 Gene
- HGNC(21020)
- Entrez Gene(55278)
- Ensembl(ENSG00000130348)
- OMIM(617209)
- UniProtKB(Q9H0R6)
- Open Targets Platform(ENSG00000130348)
- Search for QRSL1 at DataMed
- Search for QRSL1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for QRSL1 Gene
Genomics for QRSL1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for QRSL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around QRSL1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for QRSL1
- Top Transcription factor binding sites by QIAGEN in the QRSL1 gene promoter:
-
- COUP
- COUP-TF
- COUP-TF1
- CREB
- deltaCREB
- GATA-3
- HNF-4alpha1
- HNF-4alpha2
- Nkx2-5
Genomic Locations for QRSL1 Gene
Genomic Locations for QRSL1 Gene
- chr6:106,629,578-106,668,417
- (GRCh38/hg38)
- Size:
- 38,840 bases
- Orientation:
- Plus strand
- chr6:107,077,441-107,116,292
- (GRCh37/hg19)
- Size:
- 38,852 bases
- Orientation:
- Plus strand
Genomic View for QRSL1 Gene
Genes around QRSL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q21 by HGNC
- 6q21 by Entrez Gene
- 6q21 by Ensembl
QRSL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for QRSL1 Gene
Proteins for QRSL1 Gene
-
Protein details for QRSL1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H0R6-GATA_HUMAN
- Recommended name:
- Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial
- Protein Accession:
- Q9H0R6
- Q5VWJ4
- Q9HA60
- Q9NV19
Protein attributes for QRSL1 Gene
- Size:
- 528 amino acids
- Molecular mass:
- 57460 Da
- Quaternary structure:
-
- Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (GATB) and C (GATC) subunits.
Protein Expression for QRSL1 Gene
Post-translational modifications for QRSL1 Gene
Other Protein References for QRSL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-QRSL1 monoclonal antibody
- Creative Biolabs Rabbit Anti-QRSL1 Recombinant Antibody (RB37609)
- Novus Biologicals Antibodies for QRSL1
-
Abcam antibodies for QRSL1
- Invitrogen Antibodies for QRSL1 (AFLGC-QRSL1)
Protein Products
-
OriGene Purified Proteins for QRSL1
- Search Origene for MassSpec and Protein Over-expression Lysates for QRSL1
- Origene Custom Protein Services for QRSL1
- antibodies-online: Show 9 available QRSL1 Proteins ranked by validation data
- Compare Top QRSL1 Proteins
-
Quality Products:
-
Abcam proteins for QRSL1
Assay Products
- antibodies-online: Show 8 available QRSL1 Elisa Kits ranked by validation data
- Compare Top QRSL1 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for QRSL1
No data available for DME Specific Peptides for QRSL1 Gene
Domains & Families for QRSL1 Gene
Gene Families for QRSL1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for QRSL1 Gene
- InterPro:
- Blocks:
-
- Amidase
- ProtoNet:
Suggested Antigen Peptide Sequences for QRSL1 Gene
- GenScript: Design optimal peptide antigens:
-
- Glutaminyl-tRNA synthase-like protein 1 (QRSL1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9H0R6- Family:
-
- Belongs to the amidase family. GatA subfamily.
Function for QRSL1 Gene
Molecular function for QRSL1 Gene
- UniProtKB/Swiss-Prot Function:
- Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H2O + L-glutamine + L-glutamyl-tRNA(Gln) = ADP + H(+) + L-glutamate + L-glutaminyl-tRNA(Gln) + phosphate; Xref=Rhea:RHEA:17521, Rhea:RHEA-COMP:9681, Rhea:RHEA-COMP:9684, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58359, ChEBI:CHEBI:78520, ChEBI:CHEBI:78521, ChEBI:CHEBI:456216; EC=6.3.5.7; Evidence={ECO:0000255|HAMAP-Rule:MF_03150};.
Enzyme Numbers (IUBMB) for QRSL1 Gene
Phenotypes From GWAS Catalog for QRSL1 Gene
| 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 | -- |
Phenotypes for QRSL1 Gene
- GenomeRNAi human phenotypes for QRSL1:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage
- Upregulation of RLR pathway after Sendai virus (SeV) infection
- Increased shRNA abundance (Z-score > 2)
- Increased S DNA content
- Decreased shRNA abundance (Z-score < -2)
- Increased nuclear migration distance
Animal Model Products
-
Taconic Biosciences Mouse Models for QRSL1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for QRSL1 - Select products 50% OFF >
- * QRSL1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for QRSL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for QRSL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for QRSL1
miRNA for QRSL1 Gene
- miRTarBase miRNAs that target QRSL1
-
- hsa-let-7b-5p (MIRT032250)
- hsa-miR-769-5p (MIRT039213)
- hsa-miR-200b-3p (MIRT053342)
- hsa-miR-3127-5p (MIRT483518)
- hsa-miR-6754-5p (MIRT483519)
- hsa-miR-4270 (MIRT483520)
- hsa-miR-4441 (MIRT483521)
- hsa-miR-211-3p (MIRT483522)
- hsa-miR-759 (MIRT483523)
- hsa-miR-4698 (MIRT483524)
- hsa-miR-8063 (MIRT483525)
- hsa-miR-892c-5p (MIRT483526)
- hsa-miR-4753-3p (MIRT619262)
- hsa-miR-6873-3p (MIRT619263)
- hsa-miR-8085 (MIRT619264)
- hsa-miR-6731-5p (MIRT619265)
- hsa-miR-130b-5p (MIRT619266)
- hsa-miR-6817-3p (MIRT619267)
- hsa-miR-7110-3p (MIRT619268)
- hsa-miR-6760-5p (MIRT619269)
- hsa-miR-10a-3p (MIRT629513)
- hsa-miR-4284 (MIRT674755)
- hsa-miR-4772-3p (MIRT674756)
- hsa-miR-4638-5p (MIRT674757)
- hsa-miR-1307-3p (MIRT674758)
- hsa-miR-1304-3p (MIRT674759)
- hsa-miR-6741-3p (MIRT674760)
- hsa-miR-6837-5p (MIRT674761)
- hsa-miR-4685-5p (MIRT674762)
- hsa-miR-7113-5p (MIRT674763)
- hsa-miR-6823-5p (MIRT674764)
- hsa-miR-6890-3p (MIRT674765)
- hsa-miR-1306-5p (MIRT674766)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for QRSL1
- Browse OriGene Inhibitory RNA Products For QRSL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QRSL1
Clone Products
- Applied Biological Materials (abm): Clones for QRSL1 - Select products 50% OFF >
- * QRSL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for QRSL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for QRSL1
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for QRSL1 Gene
Localization for QRSL1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for QRSL1 Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Centrosome (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IBA,IDA | 19805282 |
| GO:0030956 | glutamyl-tRNA(Gln) amidotransferase complex | IBA,IDA | 19805282 |
Pathways & Interactions for QRSL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA Aminoacylation | ||
| 2 | Metabolism | ||
Pathways by source for QRSL1 Gene
2 KEGG pathways for QRSL1 Gene
Interacting Proteins for QRSL1 Gene
Selected Interacting proteins:
Q9H0R6-GATA_HUMAN
ENSP00000358042
for QRSL1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for QRSL1
| 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 |
No data available for SIGNOR curated interactions for QRSL1 Gene
Drugs & Compounds for QRSL1 Gene
| 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 |
|
Transcripts for QRSL1 Gene
mRNA/cDNA for QRSL1 Gene
- 1 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000369044 2158 nts (view in UCSC)
- ENST00000369046 4106 nts (view in UCSC)
- ENST00000467262 413 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for QRSL1 - Select products 50% OFF >
- * QRSL1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for QRSL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for QRSL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for QRSL1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for QRSL1
- Browse OriGene Inhibitory RNA Products For QRSL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QRSL1
Clone Products
- Applied Biological Materials (abm): Clones for QRSL1 - Select products 50% OFF >
- * QRSL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for QRSL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for QRSL1
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||
| SP4: | - |
Relevant External Links for QRSL1 Gene
- GeneLoc Exon Structure for
- QRSL1
Expression for QRSL1 Gene
This gene is overexpressed in Heart (39.9), Plasma (13.3), and Lung (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for QRSL1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for QRSL1
SOURCE GeneReport for Unigene cluster for QRSL1 Gene:
Hs.406917Evidence on tissue expression from TISSUES for QRSL1 Gene
- Nervous system(4.8)
- Bone marrow(2.4)
- Heart(2.3)
- Muscle(2.2)
- Liver(2.2)
- Intestine(2.2)
- Skin(2.2)
- Blood(2.2)
- Pancreas(2)
Primer Products
-
OriGene qPCR primer pairs for QRSL1
-
OriGene qPCR primer pairs and template standards for QRSL1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for QRSL1 Gene
Orthologs for QRSL1 Gene
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 |
|
- Species where no ortholog for QRSL1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for QRSL1 Gene
- ENSEMBL:
- Gene Tree for QRSL1 (if available)
- TreeFam:
- Gene Tree for QRSL1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for QRSL1: view image
Paralogs for QRSL1 Gene
Pseudogenes.org Pseudogenes for QRSL1 Gene
Variants for QRSL1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for QRSL1 Gene
| 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 |
Residual Variation Intolerance Score:
38.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.66;
72.85% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for QRSL1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for QRSL1 Gene
Disorders for QRSL1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| combined oxidative phosphorylation deficiency 40 |
|
|
| qrsl1-related combined oxidative phosphorylation defect |
|
|
| ornithosis |
|
|
| lymphogranuloma venereum |
|
|
| granuloma inguinale |
|
|
Search QRSL1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GATA_HUMAN- Note=Defects in QRSL1 may play a role in mitochondrial disorders characterized by combined respiratory chain complex deficiencies. {ECO:0000269 PubMed:26741492}.
Additional Disease Information for QRSL1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for QRSL1 Gene
Publications for QRSL1 Gene
- Biogenesis of glutaminyl-mt tRNAGln in human mitochondria. (PMID: 19805282) Nagao A … Suzuki T (Proceedings of the National Academy of Sciences of the United States of America 2009) 2 3 4
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
- Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 41
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4
ExternalLinks
Products for QRSL1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for QRSL1
- Search Origene for MassSpec and Protein Over-expression Lysates for QRSL1
- Origene Custom Protein Services for QRSL1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for QRSL1
- Browse OriGene Inhibitory RNA Products For QRSL1
- OriGene qPCR primer pairs for QRSL1
- OriGene qPCR primer pairs and template standards for QRSL1
- OriGene CRISPR knockouts for QRSL1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For QRSL1
- Sino Biological Human cDNA Clone for QRSL1
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for QRSL1
- Novus Biologicals proteins and lysates for QRSL1
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- Abcam antibodies for QRSL1
- Abcam proteins for QRSL1
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- Taconic Biosciences Mouse Models for QRSL1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for QRSL1 (AFLGC-QRSL1)
- VectorBuilder Custom and pre-made DNA vectors for QRSL1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for QRSL1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for QRSL1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for QRSL1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for QRSL1
- antibodies-online: Show 15 available QRSL1 Antibodies ranked by validation data
- Compare Top QRSL1 Antibodies
- antibodies-online: Show 8 available QRSL1 Elisa Kits ranked by validation data
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- Quality Products:
- antibodies-online: Show 9 available QRSL1 Proteins ranked by validation data
- Compare Top QRSL1 Proteins
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for QRSL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for QRSL1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for QRSL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QRSL1
- Signalway ELISA kits for QRSL1
Sources for QRSL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB