UniProtKB - Q5JPH6 (SYEM_HUMAN)
Protein
Probable glutamate--tRNA ligase, mitochondrial
Gene
EARS2
Organism
Homo sapiens (Human)
Status
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
- EC:6.1.1.17
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 50 | ATPBy similarity | 1 | |
Binding sitei | 76 | GlutamateBy similarity | 1 | |
Binding sitei | 246 | GlutamateBy similarity | 1 | |
Binding sitei | 249 | ATPBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 284 – 288 | ATPBy similarity | 5 |
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 function | Aminoacyl-tRNA synthetase, Ligase, RNA-binding |
Biological process | Protein biosynthesis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q5JPH6 |
Reactomei | R-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 |
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
EuPathDBi | HostDB:ENSG00000103356.15 |
HGNCi | HGNC:29419, EARS2 |
MIMi | 612799, gene |
neXtProti | NX_Q5JPH6 |
Subcellular locationi
Mitochondrion
- Mitochondrion matrix By similarity
Mitochondrion
- mitochondrial matrix Source: UniProtKB-SubCell
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
MitochondrionPathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069235 | 55 | R → H in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs770862902Ensembl. | 1 | |
Natural variantiVAR_069236 | 65 | K → E in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514595EnsemblClinVar. | 1 | |
Natural variantiVAR_069237 | 96 | E → K in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514593EnsemblClinVar. | 1 | |
Natural variantiVAR_076183 | 107 | R → C in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs1355685453Ensembl. | 1 | |
Natural variantiVAR_069238 | 107 | R → H in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs1021330566EnsemblClinVar. | 1 | |
Natural variantiVAR_069239 | 108 | R → W in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs376103091EnsemblClinVar. | 1 | |
Natural variantiVAR_069240 | 110 | G → S in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs201842633EnsemblClinVar. | 1 | |
Natural variantiVAR_069241 | 167 | C → Y in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514594EnsemblClinVar. | 1 | |
Natural variantiVAR_069242 | 168 | R → G in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514591EnsemblClinVar. | 1 | |
Natural variantiVAR_069243 | 204 | G → S in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514592EnsemblClinVar. | 1 | |
Natural variantiVAR_069244 | 224 | G → S in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs141129877EnsemblClinVar. | 1 | |
Natural variantiVAR_069245 | 317 | G → C in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs746838793EnsemblClinVar. | 1 | |
Natural variantiVAR_069246 | 426 – 427 | TR → L in COXPD12. 1 Publication | 2 | |
Natural variantiVAR_076184 | 489 | R → Q in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs757965573Ensembl. | 1 | |
Natural variantiVAR_069247 | 516 | R → Q in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs201727231EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 124454 |
MalaCardsi | EARS2 |
MIMi | 614924, phenotype |
OpenTargetsi | ENSG00000103356 |
Orphaneti | 314051, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
PharmGKBi | PA144596439 |
Miscellaneous databases
Pharosi | Q5JPH6, Tbio |
Chemistry databases
DrugBanki | DB00142, Glutamic acid |
Polymorphism and mutation databases
BioMutai | EARS2 |
DMDMi | 117949790 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 41 | MitochondrionSequence analysisAdd BLAST | 41 | |
ChainiPRO_0000254560 | 42 – 523 | Probable glutamate--tRNA ligase, mitochondrialAdd BLAST | 482 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 256 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 486 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q5JPH6 |
jPOSTi | Q5JPH6 |
MassIVEi | Q5JPH6 |
MaxQBi | Q5JPH6 |
PaxDbi | Q5JPH6 |
PeptideAtlasi | Q5JPH6 |
PRIDEi | Q5JPH6 |
ProteomicsDBi | 63015 [Q5JPH6-1] |
PTM databases
iPTMneti | Q5JPH6 |
PhosphoSitePlusi | Q5JPH6 |
Expressioni
Gene expression databases
Bgeei | ENSG00000103356, Expressed in muscle tissue and 199 other tissues |
ExpressionAtlasi | Q5JPH6, baseline and differential |
Genevisiblei | Q5JPH6, HS |
Organism-specific databases
HPAi | ENSG00000103356, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 125866, 7 interactors |
IntActi | Q5JPH6, 4 interactors |
STRINGi | 9606.ENSP00000395196 |
Miscellaneous databases
RNActi | Q5JPH6, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 40 – 42 | Glutamate bindingBy similarity | 3 | |
Regioni | 228 – 232 | Glutamate bindingBy similarity | 5 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 45 – 53 | 'HIGH' region | 9 | |
Motifi | 284 – 288 | 'KMSKS' region | 5 |
Sequence similaritiesi
Belongs to the class-I aminoacyl-tRNA synthetase family. Glutamate--tRNA ligase type 1 subfamily.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG1149, Eukaryota |
GeneTreei | ENSGT00390000009759 |
HOGENOMi | CLU_015768_6_3_1 |
InParanoidi | Q5JPH6 |
OMAi | HYINTLP |
OrthoDBi | 879920at2759 |
PhylomeDBi | Q5JPH6 |
TreeFami | TF313268 |
Family and domain databases
CDDi | cd00808, GluRS_core, 1 hit |
Gene3Di | 1.10.10.350, 1 hit 3.40.50.620, 1 hit |
HAMAPi | MF_00022, Glu_tRNA_synth_type1, 1 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF00749, tRNA-synt_1c, 1 hit |
PRINTSi | PR00987, TRNASYNTHGLU |
SUPFAMi | SSF48163, SSF48163, 1 hit |
TIGRFAMsi | TIGR00464, gltX_bact, 1 hit |
PROSITEi | View protein in PROSITE PS00178, AA_TRNA_LIGASE_I, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q5JPH6-1) [UniParc]FASTAAdd to basket
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
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BTB7 | H3BTB7_HUMAN | Glutamyl-tRNA synthetase | EARS2 | 506 | Annotation score: | ||
H3BQI0 | H3BQI0_HUMAN | Probable glutamate--tRNA ligase, mi... | EARS2 | 99 | Annotation score: | ||
H3BPY3 | H3BPY3_HUMAN | Probable glutamate--tRNA ligase, mi... | EARS2 | 54 | Annotation score: | ||
H3BQP8 | H3BQP8_HUMAN | Probable glutamate--tRNA ligase, mi... | EARS2 | 79 | Annotation score: | ||
I3L166 | I3L166_HUMAN | Probable glutamate--tRNA ligase, mi... | EARS2 | 112 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069235 | 55 | R → H in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs770862902Ensembl. | 1 | |
Natural variantiVAR_069236 | 65 | K → E in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514595EnsemblClinVar. | 1 | |
Natural variantiVAR_069237 | 96 | E → K in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514593EnsemblClinVar. | 1 | |
Natural variantiVAR_076183 | 107 | R → C in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs1355685453Ensembl. | 1 | |
Natural variantiVAR_069238 | 107 | R → H in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs1021330566EnsemblClinVar. | 1 | |
Natural variantiVAR_069239 | 108 | R → W in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs376103091EnsemblClinVar. | 1 | |
Natural variantiVAR_069240 | 110 | G → S in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs201842633EnsemblClinVar. | 1 | |
Natural variantiVAR_069241 | 167 | C → Y in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514594EnsemblClinVar. | 1 | |
Natural variantiVAR_069242 | 168 | R → G in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514591EnsemblClinVar. | 1 | |
Natural variantiVAR_069243 | 204 | G → S in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs397514592EnsemblClinVar. | 1 | |
Natural variantiVAR_069244 | 224 | G → S in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs141129877EnsemblClinVar. | 1 | |
Natural variantiVAR_069245 | 317 | G → C in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs746838793EnsemblClinVar. | 1 | |
Natural variantiVAR_069246 | 426 – 427 | TR → L in COXPD12. 1 Publication | 2 | |
Natural variantiVAR_028840 | 457 | S → G3 PublicationsCorresponds to variant dbSNP:rs6497671EnsemblClinVar. | 1 | |
Natural variantiVAR_076184 | 489 | R → Q in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs757965573Ensembl. | 1 | |
Natural variantiVAR_069247 | 516 | R → Q in COXPD12. 1 PublicationCorresponds to variant dbSNP:rs201727231EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_057203 | 497 – 523 | QGPPV…KVVSS → VRQGHGLDCSLEPLIDPLNL HFLAGTELNIEYTKVNET in isoform 2. 1 PublicationAdd BLAST | 27 |
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 |
CCDSi | CCDS42132.1 [Q5JPH6-1] CCDS76844.1 [Q5JPH6-2] |
RefSeqi | NP_001077083.1, NM_001083614.1 [Q5JPH6-1] NP_001295140.1, NM_001308211.1 [Q5JPH6-2] |
Genome annotation databases
Ensembli | ENST00000449606; ENSP00000395196; ENSG00000103356 [Q5JPH6-1] ENST00000563232; ENSP00000456218; ENSG00000103356 [Q5JPH6-2] ENST00000563459; ENSP00000456467; ENSG00000103356 [Q5JPH6-1] ENST00000674054; ENSP00000501251; ENSG00000103356 [Q5JPH6-1] |
GeneIDi | 124454 |
KEGGi | hsa:124454 |
UCSCi | uc002dlt.5, human [Q5JPH6-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS42132.1 [Q5JPH6-1] CCDS76844.1 [Q5JPH6-2] |
RefSeqi | NP_001077083.1, NM_001083614.1 [Q5JPH6-1] NP_001295140.1, NM_001308211.1 [Q5JPH6-2] |
3D structure databases
SMRi | Q5JPH6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125866, 7 interactors |
IntActi | Q5JPH6, 4 interactors |
STRINGi | 9606.ENSP00000395196 |
Chemistry databases
DrugBanki | DB00142, Glutamic acid |
PTM databases
iPTMneti | Q5JPH6 |
PhosphoSitePlusi | Q5JPH6 |
Polymorphism and mutation databases
BioMutai | EARS2 |
DMDMi | 117949790 |
Proteomic databases
EPDi | Q5JPH6 |
jPOSTi | Q5JPH6 |
MassIVEi | Q5JPH6 |
MaxQBi | Q5JPH6 |
PaxDbi | Q5JPH6 |
PeptideAtlasi | Q5JPH6 |
PRIDEi | Q5JPH6 |
ProteomicsDBi | 63015 [Q5JPH6-1] |
Protocols and materials databases
Antibodypediai | 25969, 116 antibodies |
DNASUi | 124454 |
Genome annotation databases
Ensembli | ENST00000449606; ENSP00000395196; ENSG00000103356 [Q5JPH6-1] ENST00000563232; ENSP00000456218; ENSG00000103356 [Q5JPH6-2] ENST00000563459; ENSP00000456467; ENSG00000103356 [Q5JPH6-1] ENST00000674054; ENSP00000501251; ENSG00000103356 [Q5JPH6-1] |
GeneIDi | 124454 |
KEGGi | hsa:124454 |
UCSCi | uc002dlt.5, human [Q5JPH6-1] |
Organism-specific databases
CTDi | 124454 |
DisGeNETi | 124454 |
EuPathDBi | HostDB:ENSG00000103356.15 |
GeneCardsi | EARS2 |
HGNCi | HGNC:29419, EARS2 |
HPAi | ENSG00000103356, Low tissue specificity |
MalaCardsi | EARS2 |
MIMi | 612799, gene 614924, phenotype |
neXtProti | NX_Q5JPH6 |
OpenTargetsi | ENSG00000103356 |
Orphaneti | 314051, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
PharmGKBi | PA144596439 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1149, Eukaryota |
GeneTreei | ENSGT00390000009759 |
HOGENOMi | CLU_015768_6_3_1 |
InParanoidi | Q5JPH6 |
OMAi | HYINTLP |
OrthoDBi | 879920at2759 |
PhylomeDBi | Q5JPH6 |
TreeFami | TF313268 |
Enzyme and pathway databases
PathwayCommonsi | Q5JPH6 |
Reactomei | R-HSA-379726, Mitochondrial tRNA aminoacylation |
Miscellaneous databases
BioGRID-ORCSi | 124454, 329 hits in 847 CRISPR screens |
ChiTaRSi | EARS2, human |
GenomeRNAii | 124454 |
Pharosi | Q5JPH6, Tbio |
PROi | PR:Q5JPH6 |
RNActi | Q5JPH6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000103356, Expressed in muscle tissue and 199 other tissues |
ExpressionAtlasi | Q5JPH6, baseline and differential |
Genevisiblei | Q5JPH6, HS |
Family and domain databases
CDDi | cd00808, GluRS_core, 1 hit |
Gene3Di | 1.10.10.350, 1 hit 3.40.50.620, 1 hit |
HAMAPi | MF_00022, Glu_tRNA_synth_type1, 1 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF00749, tRNA-synt_1c, 1 hit |
PRINTSi | PR00987, TRNASYNTHGLU |
SUPFAMi | SSF48163, SSF48163, 1 hit |
TIGRFAMsi | TIGR00464, gltX_bact, 1 hit |
PROSITEi | View protein in PROSITE PS00178, AA_TRNA_LIGASE_I, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SYEM_HUMAN | |
Accessioni | Q5JPH6Primary (citable) accession number: Q5JPH6 Secondary accession number(s): B3KTT2 Q8TF31 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | October 31, 2006 | |
Last modified: | December 2, 2020 | |
This is version 138 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 polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Aminoacyl-tRNA synthetases
List of aminoacyl-tRNA synthetase entries