Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial

Gene

QRSL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 Publication

Catalytic activityi

ATP + L-glutamyl-tRNA(Gln) + L-glutamine = ADP + phosphate + L-glutaminyl-tRNA(Gln) + L-glutamate.UniRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei76Charge relay systemUniRule annotation1
Active sitei171Charge relay systemUniRule annotation1
Active sitei195Acyl-ester intermediateUniRule annotation1

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
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Protein biosynthesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS05375-MONOMER.
BRENDAi6.3.5.7. 2681.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21020. QRSL1.

Subcellular locationi

GO - Cellular componenti

  • glutamyl-tRNA(Gln) amidotransferase complex Source: UniProtKB
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Defects in QRSL1 may play a role in mitochondrial disorders characterized by combined respiratory chain complex deficiencies.

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi55278.
OpenTargetsiENSG00000130348.
PharmGKBiPA128394680.

Polymorphism and mutation databases

BioMutaiQRSL1.
DMDMi167016573.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003167671 – 528Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrialAdd BLAST528

Proteomic databases

EPDiQ9H0R6.
MaxQBiQ9H0R6.
PaxDbiQ9H0R6.
PeptideAtlasiQ9H0R6.
PRIDEiQ9H0R6.

PTM databases

iPTMnetiQ9H0R6.
PhosphoSitePlusiQ9H0R6.

Expressioni

Gene expression databases

BgeeiENSG00000130348.
CleanExiHS_QRSL1.
ExpressionAtlasiQ9H0R6. baseline and differential.
GenevisibleiQ9H0R6. HS.

Organism-specific databases

HPAiHPA029585.
HPA029587.

Interactioni

Subunit structurei

Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (GATB) and C (GATC) subunits.

Protein-protein interaction databases

BioGridi120566. 7 interactors.
DIPiDIP-48970N.
IntActiQ9H0R6. 6 interactors.
MINTiMINT-3066061.
STRINGi9606.ENSP00000358042.

Structurei

3D structure databases

ProteinModelPortaliQ9H0R6.
SMRiQ9H0R6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the amidase family. GatA subfamily.UniRule annotation

Phylogenomic databases

eggNOGiKOG1211. Eukaryota.
COG0154. LUCA.
GeneTreeiENSGT00550000074866.
HOGENOMiHOG000116699.
HOVERGENiHBG101134.
InParanoidiQ9H0R6.
KOiK02433.
OMAiSKQYRER.
OrthoDBiEOG091G08EM.
PhylomeDBiQ9H0R6.
TreeFamiTF313766.

Family and domain databases

Gene3Di3.90.1300.10. 1 hit.
HAMAPiMF_00120. GatA. 1 hit.
InterProiIPR000120. Amidase.
IPR023631. Amidase_dom.
IPR004412. GatA.
[Graphical view]
PANTHERiPTHR11895. PTHR11895. 2 hits.
PfamiPF01425. Amidase. 1 hit.
[Graphical view]
SUPFAMiSSF75304. SSF75304. 1 hit.
TIGRFAMsiTIGR00132. gatA. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H0R6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:528
Mass (Da):57,460
Last modified:February 5, 2008 - v2
Checksum:i06E21A7D17A6E963
GO
Isoform 2 (identifier: Q9H0R6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     284-304: EYLVPELSSEVQSLWSKAADL → VTFSFHYFTEILSSPIESTD
     305-528: Missing.

Show »
Length:303
Mass (Da):32,374
Checksum:i66475B27012139E2
GO

Sequence cautioni

The sequence CAH72094 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti34T → A in CAB66614 (PubMed:11230166).Curated1
Sequence conflicti147Q → R in CAB66614 (PubMed:11230166).Curated1
Sequence conflicti172S → P in CAB66614 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03838911A → V.Corresponds to variant rs36016898dbSNPEnsembl.1
Natural variantiVAR_076270117G → E Probable disease-associated mutation found in a patient with combined respiratory chain complex deficiencies; highly decreased glutaminyl-tRNAGln biosynthesis via transamidation. 1 Publication1
Natural variantiVAR_076271133G → V Probable disease-associated mutation found in patients with combined respiratory chain complex deficiencies; highly decreased glutaminyl-tRNAGln biosynthesis via transamidation. 1 Publication1
Natural variantiVAR_038390263N → S.Corresponds to variant rs34221917dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030773284 – 304EYLVP…KAADL → VTFSFHYFTEILSSPIESTD in isoform 2. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_030774305 – 528Missing in isoform 2. 1 PublicationAdd BLAST224

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. Translation: CAH72093.1.
AL390074 Genomic DNA. Translation: CAH72094.1. Sequence problems.
CH471051 Genomic DNA. Translation: EAW48407.1.
BC006084 mRNA. Translation: AAH06084.1.
BC014389 mRNA. Translation: AAH14389.1.
CCDSiCCDS5057.1. [Q9H0R6-1]
RefSeqiNP_060762.3. NM_018292.4. [Q9H0R6-1]
UniGeneiHs.406917.

Genome annotation databases

EnsembliENST00000369046; ENSP00000358042; ENSG00000130348. [Q9H0R6-1]
GeneIDi55278.
KEGGihsa:55278.
UCSCiuc003prm.4. human. [Q9H0R6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. Translation: CAH72093.1.
AL390074 Genomic DNA. Translation: CAH72094.1. Sequence problems.
CH471051 Genomic DNA. Translation: EAW48407.1.
BC006084 mRNA. Translation: AAH06084.1.
BC014389 mRNA. Translation: AAH14389.1.
CCDSiCCDS5057.1. [Q9H0R6-1]
RefSeqiNP_060762.3. NM_018292.4. [Q9H0R6-1]
UniGeneiHs.406917.

3D structure databases

ProteinModelPortaliQ9H0R6.
SMRiQ9H0R6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120566. 7 interactors.
DIPiDIP-48970N.
IntActiQ9H0R6. 6 interactors.
MINTiMINT-3066061.
STRINGi9606.ENSP00000358042.

PTM databases

iPTMnetiQ9H0R6.
PhosphoSitePlusiQ9H0R6.

Polymorphism and mutation databases

BioMutaiQRSL1.
DMDMi167016573.

Proteomic databases

EPDiQ9H0R6.
MaxQBiQ9H0R6.
PaxDbiQ9H0R6.
PeptideAtlasiQ9H0R6.
PRIDEiQ9H0R6.

Protocols and materials databases

DNASUi55278.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369046; ENSP00000358042; ENSG00000130348. [Q9H0R6-1]
GeneIDi55278.
KEGGihsa:55278.
UCSCiuc003prm.4. human. [Q9H0R6-1]

Organism-specific databases

CTDi55278.
DisGeNETi55278.
GeneCardsiQRSL1.
H-InvDBHIX0006105.
HGNCiHGNC:21020. QRSL1.
HPAiHPA029585.
HPA029587.
neXtProtiNX_Q9H0R6.
OpenTargetsiENSG00000130348.
PharmGKBiPA128394680.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1211. Eukaryota.
COG0154. LUCA.
GeneTreeiENSGT00550000074866.
HOGENOMiHOG000116699.
HOVERGENiHBG101134.
InParanoidiQ9H0R6.
KOiK02433.
OMAiSKQYRER.
OrthoDBiEOG091G08EM.
PhylomeDBiQ9H0R6.
TreeFamiTF313766.

Enzyme and pathway databases

BioCyciZFISH:HS05375-MONOMER.
BRENDAi6.3.5.7. 2681.

Miscellaneous databases

ChiTaRSiQRSL1. human.
GenomeRNAii55278.
PROiQ9H0R6.

Gene expression databases

BgeeiENSG00000130348.
CleanExiHS_QRSL1.
ExpressionAtlasiQ9H0R6. baseline and differential.
GenevisibleiQ9H0R6. HS.

Family and domain databases

Gene3Di3.90.1300.10. 1 hit.
HAMAPiMF_00120. GatA. 1 hit.
InterProiIPR000120. Amidase.
IPR023631. Amidase_dom.
IPR004412. GatA.
[Graphical view]
PANTHERiPTHR11895. PTHR11895. 2 hits.
PfamiPF01425. Amidase. 1 hit.
[Graphical view]
SUPFAMiSSF75304. SSF75304. 1 hit.
TIGRFAMsiTIGR00132. gatA. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiGATA_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.