UniProtKB - Q9H0R6 (GATA_HUMAN)
Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial
QRSL1
Functioni
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).
UniRule annotation1 PublicationCatalytic activityi
- ATP + H2O + L-glutamine + L-glutamyl-tRNAGln = ADP + H+ + L-glutamate + L-glutaminyl-tRNAGln + phosphateUniRule annotationEC:6.3.5.7UniRule annotation
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 76 | Charge relay systemUniRule annotation | 1 | |
Active sitei | 171 | Charge relay systemUniRule annotation | 1 | |
Active sitei | 195 | Acyl-ester intermediateUniRule annotation | 1 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity Source: UniProtKB
GO - Biological processi
- glutaminyl-tRNAGln biosynthesis via transamidation Source: UniProtKB
- mitochondrial translation Source: UniProtKB
- regulation of protein stability Source: Ensembl
Keywordsi
Molecular function | Ligase |
Biological process | Protein biosynthesis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 6.3.5.7, 2681 |
PathwayCommonsi | Q9H0R6 |
SignaLinki | Q9H0R6 |
Names & Taxonomyi
Protein namesi | Recommended name: Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrialUniRule annotation (EC:6.3.5.7UniRule annotation)Short name: Glu-AdT subunit AUniRule annotation Alternative name(s): Glutaminyl-tRNA synthase-like protein 1UniRule annotation |
Gene namesi | Name:QRSL1UniRule annotation |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:21020, QRSL1 |
MIMi | 617209, gene |
neXtProti | NX_Q9H0R6 |
VEuPathDBi | HostDB:ENSG00000130348 |
Subcellular locationi
Mitochondrion
- Mitochondrion UniRule annotation1 Publication
Mitochondrion
- mitochondrion Source: UniProtKB
Other locations
- glutamyl-tRNA(Gln) amidotransferase complex Source: UniProtKB
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Combined oxidative phosphorylation deficiency 40 (COXPD40)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076270 | 117 | G → E in COXPD40; highly decreased glutaminyl-tRNAGln biosynthesis via transamidation. 1 Publication | 1 | |
Natural variantiVAR_076271 | 133 | G → V in COXPD40; highly decreased glutaminyl-tRNAGln biosynthesis via transamidation. 2 PublicationsCorresponds to variant dbSNP:rs1562168768EnsemblClinVar. | 1 | |
Natural variantiVAR_083983 | 185 – 528 | Missing in COXPD40. 1 PublicationAdd BLAST | 344 | |
Natural variantiVAR_083984 | 196 – 199 | TRNP → NKNH in COXPD40; unknown pathological significance. 1 Publication | 4 | |
Natural variantiVAR_083985 | 427 | A → L in COXPD40; requires 2 nucleotide substitutions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1562173313EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 55278 |
MalaCardsi | QRSL1 |
MIMi | 618835, phenotype |
OpenTargetsi | ENSG00000130348 |
Orphaneti | 570491, QRSL1-related combined oxidative phosphorylation defect |
PharmGKBi | PA128394680 |
Miscellaneous databases
Pharosi | Q9H0R6, Tbio |
Genetic variation databases
BioMutai | QRSL1 |
DMDMi | 167016573 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000316767 | 1 – 528 | Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrialAdd BLAST | 528 |
Proteomic databases
EPDi | Q9H0R6 |
jPOSTi | Q9H0R6 |
MassIVEi | Q9H0R6 |
MaxQBi | Q9H0R6 |
PaxDbi | Q9H0R6 |
PeptideAtlasi | Q9H0R6 |
PRIDEi | Q9H0R6 |
ProteomicsDBi | 80319 [Q9H0R6-1] 80320 [Q9H0R6-2] |
PTM databases
iPTMneti | Q9H0R6 |
MetOSitei | Q9H0R6 |
PhosphoSitePlusi | Q9H0R6 |
Expressioni
Gene expression databases
Bgeei | ENSG00000130348, Expressed in bone marrow and 224 other tissues |
ExpressionAtlasi | Q9H0R6, baseline and differential |
Genevisiblei | Q9H0R6, HS |
Organism-specific databases
HPAi | ENSG00000130348, Low tissue specificity |
Interactioni
Subunit structurei
Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (GATB) and C (GATC) subunits.
Binary interactionsi
Protein-protein interaction databases
BioGRIDi | 120566, 114 interactors |
ComplexPortali | CPX-6174, Mitochondrial glutamyl-tRNA(Gln) amidotransferase complex |
CORUMi | Q9H0R6 |
DIPi | DIP-48970N |
IntActi | Q9H0R6, 16 interactors |
MINTi | Q9H0R6 |
STRINGi | 9606.ENSP00000358042 |
Miscellaneous databases
RNActi | Q9H0R6, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 148 – 167 | DisorderedSequence analysisAdd BLAST | 20 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1211, Eukaryota |
GeneTreei | ENSGT00550000074866 |
HOGENOMi | CLU_009600_7_6_1 |
InParanoidi | Q9H0R6 |
OMAi | EVSCPHF |
OrthoDBi | 1195292at2759 |
PhylomeDBi | Q9H0R6 |
TreeFami | TF313766 |
Family and domain databases
Gene3Di | 3.90.1300.10, 1 hit |
HAMAPi | MF_00120, GatA, 1 hit |
InterProi | View protein in InterPro IPR000120, Amidase IPR023631, Amidase_dom IPR036928, AS_sf IPR004412, GatA |
PANTHERi | PTHR11895, PTHR11895, 1 hit |
Pfami | View protein in Pfam PF01425, Amidase, 1 hit |
SUPFAMi | SSF75304, SSF75304, 1 hit |
TIGRFAMsi | TIGR00132, gatA, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MLGRSLREVS AALKQGQITP TELCQKCLSL IKKTKFLNAY ITVSEEVALK
60 70 80 90 100
QAEESEKRYK NGQSLGDLDG IPIAVKDNFS TSGIETTCAS NMLKGYIPPY
110 120 130 140 150
NATVVQKLLD QGALLMGKTN LDEFAMGSGS TDGVFGPVKN PWSYSKQYRE
160 170 180 190 200
KRKQNPHSEN EDSDWLITGG SSGGSAAAVS AFTCYAALGS DTGGSTRNPA
210 220 230 240 250
AHCGLVGFKP SYGLVSRHGL IPLVNSMDVP GILTRCVDDA AIVLGALAGP
260 270 280 290 300
DPRDSTTVHE PINKPFMLPS LADVSKLCIG IPKEYLVPEL SSEVQSLWSK
310 320 330 340 350
AADLFESEGA KVIEVSLPHT SYSIVCYHVL CTSEVASNMA RFDGLQYGHR
360 370 380 390 400
CDIDVSTEAM YAATRREGFN DVVRGRILSG NFFLLKENYE NYFVKAQKVR
410 420 430 440 450
RLIANDFVNA FNSGVDVLLT PTTLSEAVPY LEFIKEDNRT RSAQDDIFTQ
460 470 480 490 500
AVNMAGLPAV SIPVALSNQG LPIGLQFIGR AFCDQQLLTV AKWFEKQVQF
510 520
PVIQLQELMD DCSAVLENEK LASVSLKQ
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketX6R772 | X6R772_HUMAN | Glutamyl-tRNA(Gln) amidotransferase... | QRSL1 | 319 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 34 | T → A in CAB66614 (PubMed:11230166).Curated | 1 | |
Sequence conflicti | 147 | Q → R in CAB66614 (PubMed:11230166).Curated | 1 | |
Sequence conflicti | 172 | S → P in CAB66614 (PubMed:11230166).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038389 | 11 | A → V. Corresponds to variant dbSNP:rs36016898Ensembl. | 1 | |
Natural variantiVAR_076270 | 117 | G → E in COXPD40; highly decreased glutaminyl-tRNAGln biosynthesis via transamidation. 1 Publication | 1 | |
Natural variantiVAR_076271 | 133 | G → V in COXPD40; highly decreased glutaminyl-tRNAGln biosynthesis via transamidation. 2 PublicationsCorresponds to variant dbSNP:rs1562168768EnsemblClinVar. | 1 | |
Natural variantiVAR_083983 | 185 – 528 | Missing in COXPD40. 1 PublicationAdd BLAST | 344 | |
Natural variantiVAR_083984 | 196 – 199 | TRNP → NKNH in COXPD40; unknown pathological significance. 1 Publication | 4 | |
Natural variantiVAR_038390 | 263 | N → S. Corresponds to variant dbSNP:rs34221917Ensembl. | 1 | |
Natural variantiVAR_083985 | 427 | A → L in COXPD40; requires 2 nucleotide substitutions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1562173313EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030773 | 284 – 304 | EYLVP…KAADL → VTFSFHYFTEILSSPIESTD in isoform 2. 1 PublicationAdd BLAST | 21 | |
Alternative sequenceiVSP_030774 | 305 – 528 | Missing in isoform 2. 1 PublicationAdd BLAST | 224 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL136679 mRNA Translation: CAB66614.1 AK001851 mRNA Translation: BAA91941.1 AK022251 mRNA Translation: BAB13996.1 AK023509 mRNA Translation: BAB14592.1 AL390074 Genomic DNA No translation available. CH471051 Genomic DNA Translation: EAW48407.1 BC006084 mRNA Translation: AAH06084.1 BC014389 mRNA Translation: AAH14389.1 |
CCDSi | CCDS5057.1 [Q9H0R6-1] |
RefSeqi | NP_060762.3, NM_018292.4 [Q9H0R6-1] |
Genome annotation databases
Ensembli | ENST00000369046.8; ENSP00000358042.4; ENSG00000130348.11 |
GeneIDi | 55278 |
KEGGi | hsa:55278 |
MANE-Selecti | ENST00000369046.8; ENSP00000358042.4; NM_018292.5; NP_060762.3 |
UCSCi | uc003prm.4, human [Q9H0R6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL136679 mRNA Translation: CAB66614.1 AK001851 mRNA Translation: BAA91941.1 AK022251 mRNA Translation: BAB13996.1 AK023509 mRNA Translation: BAB14592.1 AL390074 Genomic DNA No translation available. CH471051 Genomic DNA Translation: EAW48407.1 BC006084 mRNA Translation: AAH06084.1 BC014389 mRNA Translation: AAH14389.1 |
CCDSi | CCDS5057.1 [Q9H0R6-1] |
RefSeqi | NP_060762.3, NM_018292.4 [Q9H0R6-1] |
3D structure databases
AlphaFoldDBi | Q9H0R6 |
SMRi | Q9H0R6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120566, 114 interactors |
ComplexPortali | CPX-6174, Mitochondrial glutamyl-tRNA(Gln) amidotransferase complex |
CORUMi | Q9H0R6 |
DIPi | DIP-48970N |
IntActi | Q9H0R6, 16 interactors |
MINTi | Q9H0R6 |
STRINGi | 9606.ENSP00000358042 |
PTM databases
iPTMneti | Q9H0R6 |
MetOSitei | Q9H0R6 |
PhosphoSitePlusi | Q9H0R6 |
Genetic variation databases
BioMutai | QRSL1 |
DMDMi | 167016573 |
Proteomic databases
EPDi | Q9H0R6 |
jPOSTi | Q9H0R6 |
MassIVEi | Q9H0R6 |
MaxQBi | Q9H0R6 |
PaxDbi | Q9H0R6 |
PeptideAtlasi | Q9H0R6 |
PRIDEi | Q9H0R6 |
ProteomicsDBi | 80319 [Q9H0R6-1] 80320 [Q9H0R6-2] |
Protocols and materials databases
Antibodypediai | 32156, 155 antibodies from 23 providers |
DNASUi | 55278 |
Genome annotation databases
Ensembli | ENST00000369046.8; ENSP00000358042.4; ENSG00000130348.11 |
GeneIDi | 55278 |
KEGGi | hsa:55278 |
MANE-Selecti | ENST00000369046.8; ENSP00000358042.4; NM_018292.5; NP_060762.3 |
UCSCi | uc003prm.4, human [Q9H0R6-1] |
Organism-specific databases
CTDi | 55278 |
DisGeNETi | 55278 |
GeneCardsi | QRSL1 |
HGNCi | HGNC:21020, QRSL1 |
HPAi | ENSG00000130348, Low tissue specificity |
MalaCardsi | QRSL1 |
MIMi | 617209, gene 618835, phenotype |
neXtProti | NX_Q9H0R6 |
OpenTargetsi | ENSG00000130348 |
Orphaneti | 570491, QRSL1-related combined oxidative phosphorylation defect |
PharmGKBi | PA128394680 |
VEuPathDBi | HostDB:ENSG00000130348 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1211, Eukaryota |
GeneTreei | ENSGT00550000074866 |
HOGENOMi | CLU_009600_7_6_1 |
InParanoidi | Q9H0R6 |
OMAi | EVSCPHF |
OrthoDBi | 1195292at2759 |
PhylomeDBi | Q9H0R6 |
TreeFami | TF313766 |
Enzyme and pathway databases
BRENDAi | 6.3.5.7, 2681 |
PathwayCommonsi | Q9H0R6 |
SignaLinki | Q9H0R6 |
Miscellaneous databases
BioGRID-ORCSi | 55278, 400 hits in 1079 CRISPR screens |
ChiTaRSi | QRSL1, human |
GenomeRNAii | 55278 |
Pharosi | Q9H0R6, Tbio |
PROi | PR:Q9H0R6 |
RNActi | Q9H0R6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000130348, Expressed in bone marrow and 224 other tissues |
ExpressionAtlasi | Q9H0R6, baseline and differential |
Genevisiblei | Q9H0R6, HS |
Family and domain databases
Gene3Di | 3.90.1300.10, 1 hit |
HAMAPi | MF_00120, GatA, 1 hit |
InterProi | View protein in InterPro IPR000120, Amidase IPR023631, Amidase_dom IPR036928, AS_sf IPR004412, GatA |
PANTHERi | PTHR11895, PTHR11895, 1 hit |
Pfami | View protein in Pfam PF01425, Amidase, 1 hit |
SUPFAMi | SSF75304, SSF75304, 1 hit |
TIGRFAMsi | TIGR00132, gatA, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GATA_HUMAN | |
Accessioni | Q9H0R6Primary (citable) accession number: Q9H0R6 Secondary accession number(s): Q5VWJ4, Q9HA60, Q9NV19 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 5, 2008 |
Last sequence update: | February 5, 2008 | |
Last modified: | May 25, 2022 | |
This is version 145 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families