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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

GO - Biological processi

  • glutaminyl-tRNAGln biosynthesis via transamidation Source: UniProtKB
  • mitochondrial translation Source: UniProtKB
  • regulation of protein stability Source: Ensembl

Keywordsi

Molecular functionLigase
Biological processProtein biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000130348.11.
HGNCiHGNC:21020. QRSL1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.1 Publication

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.

Binary interactionsi

WithEntry#Exp.IntActNotes
GATCO437162EBI-2856796,EBI-6929453

Protein-protein interaction databases

BioGridi120566. 7 interactors.
DIPiDIP-48970N.
IntActiQ9H0R6. 8 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.
OMAiPITQNVE.
OrthoDBiEOG091G08EM.
PhylomeDBiQ9H0R6.
TreeFamiTF313766.

Family and domain databases

Gene3Di3.90.1300.10. 1 hit.
HAMAPiMF_00120. GatA. 1 hit.
InterProiView protein in InterPro
IPR000120. Amidase.
IPR023631. Amidase_dom.
IPR036928. AS_sf.
IPR004412. GatA.
PANTHERiPTHR11895. PTHR11895. 1 hit.
PfamiView protein in Pfam
PF01425. Amidase. 1 hit.
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 dbSNP:rs36016898Ensembl.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 dbSNP:rs34221917Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiGATA_HUMAN
AccessioniPrimary (citable) accession number: Q9H0R6
Secondary accession number(s): Q5VWJ4, Q9HA60, Q9NV19
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 5, 2008
Last modified: October 25, 2017
This is version 121 of the entry and version 2 of the sequence. See 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