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Protein

Probable glutamate--tRNA ligase, mitochondrial

Gene

EARS2

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

Functioni

Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu).By similarity

Catalytic activityi

ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei50ATPBy similarity1
Binding sitei76GlutamateBy similarity1
Binding sitei246GlutamateBy similarity1
Binding sitei249ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi284 – 288ATPBy similarity5

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • glutamate-tRNA(Gln) ligase activity Source: UniProtKB
  • glutamate-tRNA ligase activity Source: UniProtKB
  • tRNA binding Source: InterPro
  • zinc ion binding Source: InterPro

GO - Biological processi

  • glutamyl-tRNA aminoacylation Source: UniProtKB
  • tRNA aminoacylation for mitochondrial protein translation Source: UniProtKB

Keywordsi

Molecular functionAminoacyl-tRNA synthetase, Ligase, RNA-binding
Biological processProtein biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-379726 Mitochondrial tRNA aminoacylation

Names & Taxonomyi

Protein namesi
Recommended name:
Probable glutamate--tRNA ligase, mitochondrial (EC:6.1.1.17)
Alternative name(s):
Glutamyl-tRNA synthetase
Short name:
GluRS
Gene namesi
Name:EARS2
Synonyms:KIAA1970
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000103356.15
HGNCiHGNC:29419 EARS2
MIMi612799 gene
neXtProtiNX_Q5JPH6

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

Combined oxidative phosphorylation deficiency 12 (COXPD12)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability.
See also OMIM:614924
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06923555R → H in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs770862902Ensembl.1
Natural variantiVAR_06923665K → E in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514595EnsemblClinVar.1
Natural variantiVAR_06923796E → K in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514593EnsemblClinVar.1
Natural variantiVAR_076183107R → C in COXPD12. 1 Publication1
Natural variantiVAR_069238107R → H in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs1021330566Ensembl.1
Natural variantiVAR_069239108R → W in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs376103091EnsemblClinVar.1
Natural variantiVAR_069240110G → S in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs201842633EnsemblClinVar.1
Natural variantiVAR_069241167C → Y in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514594EnsemblClinVar.1
Natural variantiVAR_069242168R → G in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514591EnsemblClinVar.1
Natural variantiVAR_069243204G → S in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514592EnsemblClinVar.1
Natural variantiVAR_069244224G → S in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs141129877EnsemblClinVar.1
Natural variantiVAR_069245317G → C in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs746838793EnsemblClinVar.1
Natural variantiVAR_069246426 – 427TR → L in COXPD12. 1 Publication2
Natural variantiVAR_076184489R → Q in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs757965573Ensembl.1
Natural variantiVAR_069247516R → Q in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs201727231EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi124454
MalaCardsiEARS2
MIMi614924 phenotype
OpenTargetsiENSG00000103356
Orphaneti314051 Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
PharmGKBiPA144596439

Chemistry databases

DrugBankiDB00142 L-Glutamic Acid

Polymorphism and mutation databases

BioMutaiEARS2
DMDMi117949790

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 41MitochondrionSequence analysisAdd BLAST41
ChainiPRO_000025456042 – 523Probable glutamate--tRNA ligase, mitochondrialAdd BLAST482

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei256N6-succinyllysineBy similarity1
Modified residuei486N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ5JPH6
MaxQBiQ5JPH6
PaxDbiQ5JPH6
PeptideAtlasiQ5JPH6
PRIDEiQ5JPH6
ProteomicsDBi63015

PTM databases

iPTMnetiQ5JPH6
PhosphoSitePlusiQ5JPH6

Expressioni

Gene expression databases

BgeeiENSG00000103356
CleanExiHS_EARS2
ExpressionAtlasiQ5JPH6 baseline and differential
GenevisibleiQ5JPH6 HS

Organism-specific databases

HPAiHPA043289
HPA043633

Interactioni

Protein-protein interaction databases

BioGridi125866, 3 interactors
IntActiQ5JPH6, 1 interactor
STRINGi9606.ENSP00000343488

Structurei

3D structure databases

ProteinModelPortaliQ5JPH6
SMRiQ5JPH6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni40 – 42Glutamate bindingBy similarity3
Regioni228 – 232Glutamate bindingBy similarity5

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi45 – 53"HIGH" region9
Motifi284 – 288"KMSKS" region5

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1149 Eukaryota
COG0008 LUCA
GeneTreeiENSGT00390000009759
HOGENOMiHOG000252720
HOVERGENiHBG056174
InParanoidiQ5JPH6
KOiK01885
OMAiHYINTLP
OrthoDBiEOG091G08PN
PhylomeDBiQ5JPH6
TreeFamiTF313268

Family and domain databases

CDDicd00808 GluRS_core, 1 hit
Gene3Di1.10.10.350, 1 hit
3.40.50.620, 1 hit
HAMAPiMF_00022 Glu_tRNA_synth_type1, 1 hit
InterProiView protein in InterPro
IPR008925 aa-tRNA-synth_I_codon-bd
IPR020751 aa-tRNA-synth_I_codon-bd_sub2
IPR001412 aa-tRNA-synth_I_CS
IPR004527 Glu-tRNA-ligase_bac/mito
IPR000924 Glu/Gln-tRNA-synth
IPR020058 Glu/Gln-tRNA-synth_Ib_cat-dom
IPR033910 GluRS_core
IPR014729 Rossmann-like_a/b/a_fold
PfamiView protein in Pfam
PF00749 tRNA-synt_1c, 1 hit
PRINTSiPR00987 TRNASYNTHGLU
SUPFAMiSSF48163 SSF48163, 1 hit
TIGRFAMsiTIGR00464 gltX_bact, 1 hit
PROSITEiView protein in PROSITE
PS00178 AA_TRNA_LIGASE_I, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q5JPH6-1) [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
MAALLRRLLQ RERPSAASGR PVGRREANLG TDAGVAVRVR FAPSPTGFLH
60 70 80 90 100
LGGLRTALYN YIFAKKYQGS FILRLEDTDQ TRVVPGAAEN IEDMLEWAGI
110 120 130 140 150
PPDESPRRGG PAGPYQQSQR LELYAQATEA LLKTGAAYPC FCSPQRLELL
160 170 180 190 200
KKEALRNHQT PRYDNRCRNM SQEQVAQKLA KDPKPAIRFR LEQVVPAFQD
210 220 230 240 250
LVYGWNRHEV ASVEGDPVIM KSDGFPTYHL ACVVDDHHMG ISHVLRGSEW
260 270 280 290 300
LVSTAKHLLL YQALGWQPPH FAHLPLLLNR DGSKLSKRQG DVFLEHFAAD
310 320 330 340 350
GFLPDSLLDI ITNCGSGFAE NQMGRTLPEL ITQFNLTQVT CHSALLDLEK
360 370 380 390 400
LPEFNRLHLQ RLVSNESQRR QLVGKLQVLV EEAFGCQLQN RDVLNPVYVE
410 420 430 440 450
RILLLRQGHI CRLQDLVSPV YSYLWTRPAV GRAQLDAISE KVDVIAKRVL
460 470 480 490 500
GLLERSSMSL TQDMLNGELK KLSEGLEGTK YSNVMKLLRM ALSGQQQGPP
510 520
VAEMMLALGP KEVRERIQKV VSS
Length:523
Mass (Da):58,689
Last modified:October 31, 2006 - v2
Checksum:iFA9B19569AD9F5DB
GO
Isoform 2 (identifier: Q5JPH6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     497-523: QGPPVAEMMLALGPKEVRERIQKVVSS → VRQGHGLDCSLEPLIDPLNLHFLAGTELNIEYTKVNET

Note: No experimental confirmation available.
Show »
Length:534
Mass (Da):59,989
Checksum:i02E8698C0991B801
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06923555R → H in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs770862902Ensembl.1
Natural variantiVAR_06923665K → E in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514595EnsemblClinVar.1
Natural variantiVAR_06923796E → K in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514593EnsemblClinVar.1
Natural variantiVAR_076183107R → C in COXPD12. 1 Publication1
Natural variantiVAR_069238107R → H in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs1021330566Ensembl.1
Natural variantiVAR_069239108R → W in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs376103091EnsemblClinVar.1
Natural variantiVAR_069240110G → S in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs201842633EnsemblClinVar.1
Natural variantiVAR_069241167C → Y in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514594EnsemblClinVar.1
Natural variantiVAR_069242168R → G in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514591EnsemblClinVar.1
Natural variantiVAR_069243204G → S in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514592EnsemblClinVar.1
Natural variantiVAR_069244224G → S in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs141129877EnsemblClinVar.1
Natural variantiVAR_069245317G → C in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs746838793EnsemblClinVar.1
Natural variantiVAR_069246426 – 427TR → L in COXPD12. 1 Publication2
Natural variantiVAR_028840457S → G3 PublicationsCorresponds to variant dbSNP:rs6497671EnsemblClinVar.1
Natural variantiVAR_076184489R → Q in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs757965573Ensembl.1
Natural variantiVAR_069247516R → Q in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs201727231EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_057203497 – 523QGPPV…KVVSS → VRQGHGLDCSLEPLIDPLNL HFLAGTELNIEYTKVNET in isoform 2. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095998 mRNA Translation: BAG53194.1
AL832489 mRNA Translation: CAI46121.1
CH471145 Genomic DNA Translation: EAW55822.1
CH471145 Genomic DNA Translation: EAW55824.1
BC040013 mRNA Translation: AAH40013.1
AB075850 mRNA Translation: BAB85556.1
CCDSiCCDS42132.1 [Q5JPH6-1]
CCDS76844.1 [Q5JPH6-2]
RefSeqiNP_001077083.1, NM_001083614.1 [Q5JPH6-1]
NP_001295140.1, NM_001308211.1 [Q5JPH6-2]
UniGeneiHs.620541

Genome annotation databases

EnsembliENST00000449606; ENSP00000395196; ENSG00000103356 [Q5JPH6-1]
ENST00000563232; ENSP00000456218; ENSG00000103356 [Q5JPH6-2]
ENST00000563459; ENSP00000456467; ENSG00000103356 [Q5JPH6-1]
GeneIDi124454
KEGGihsa:124454
UCSCiuc002dlt.5 human [Q5JPH6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSYEM_HUMAN
AccessioniPrimary (citable) accession number: Q5JPH6
Secondary accession number(s): B3KTT2
, D3DWF1, Q86YH3, Q8TF31
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: June 20, 2018
This is version 120 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. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

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