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Protein

Probable glutamate--tRNA ligase, mitochondrial

Gene

EARS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei50ATPBy similarity1
Binding sitei76GlutamateBy similarity1
Binding sitei246GlutamateBy similarity1
Binding sitei249ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi284 – 288ATPBy similarity5

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-379726 Mitochondrial tRNA aminoacylation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Probable glutamate--tRNA ligase, mitochondrial (EC:6.1.1.17)
Alternative name(s):
Glutamyl-tRNA synthetase
Short name:
GluRS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EARS2
Synonyms:KIAA1970
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000103356.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29419 EARS2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612799 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5JPH6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1355685453Ensembl.1
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

DisGeNET

More...
DisGeNETi
124454

MalaCards human disease database

More...
MalaCardsi
EARS2
MIMi614924 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000103356

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA144596439

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00142 L-Glutamic Acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EARS2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
117949790

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 41MitochondrionSequence analysisAdd BLAST41
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000025456042 – 523Probable glutamate--tRNA ligase, mitochondrialAdd BLAST482

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei256N6-succinyllysineBy similarity1
Modified residuei486N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5JPH6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q5JPH6

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5JPH6

PeptideAtlas

More...
PeptideAtlasi
Q5JPH6

PRoteomics IDEntifications database

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PRIDEi
Q5JPH6

ProteomicsDB human proteome resource

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ProteomicsDBi
63015

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5JPH6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5JPH6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000103356 Expressed in 183 organ(s), highest expression level in adrenal tissue

CleanEx database of gene expression profiles

More...
CleanExi
HS_EARS2

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5JPH6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5JPH6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043289
HPA043633

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
125866, 4 interactors

Protein interaction database and analysis system

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IntActi
Q5JPH6, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000343488

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q5JPH6

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q5JPH6

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni40 – 42Glutamate bindingBy similarity3
Regioni228 – 232Glutamate bindingBy similarity5

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi45 – 53"HIGH" region9
Motifi284 – 288"KMSKS" region5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1149 Eukaryota
COG0008 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000009759

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000252720

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG056174

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5JPH6

KEGG Orthology (KO)

More...
KOi
K01885

Identification of Orthologs from Complete Genome Data

More...
OMAi
HYINTLP

Database of Orthologous Groups

More...
OrthoDBi
EOG091G08PN

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5JPH6

TreeFam database of animal gene trees

More...
TreeFami
TF313268

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00808 GluRS_core, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.10.350, 1 hit
3.40.50.620, 1 hit

HAMAP database of protein families

More...
HAMAPi
MF_00022 Glu_tRNA_synth_type1, 1 hit

Integrated resource of protein families, domains and functional sites

More...
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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00749 tRNA-synt_1c, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00987 TRNASYNTHGLU

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48163 SSF48163, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00464 gltX_bact, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00178 AA_TRNA_LIGASE_I, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BTB7H3BTB7_HUMAN
Probable glutamate--tRNA ligase, mi...
EARS2
506Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BQI0H3BQI0_HUMAN
Probable glutamate--tRNA ligase, mi...
EARS2
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BQP8H3BQP8_HUMAN
Probable glutamate--tRNA ligase, mi...
EARS2
79Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L166I3L166_HUMAN
Probable glutamate--tRNA ligase, mi...
EARS2
112Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BPY3H3BPY3_HUMAN
Probable glutamate--tRNA ligase, mi...
EARS2
54Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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 PublicationCorresponds to variant dbSNP:rs1355685453Ensembl.1
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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_057203497 – 523QGPPV…KVVSS → VRQGHGLDCSLEPLIDPLNL HFLAGTELNIEYTKVNET in isoform 2. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS42132.1 [Q5JPH6-1]
CCDS76844.1 [Q5JPH6-2]

NCBI Reference Sequences

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RefSeqi
NP_001077083.1, NM_001083614.1 [Q5JPH6-1]
NP_001295140.1, NM_001308211.1 [Q5JPH6-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.620541

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000449606; ENSP00000395196; ENSG00000103356 [Q5JPH6-1]
ENST00000563232; ENSP00000456218; ENSG00000103356 [Q5JPH6-2]
ENST00000563459; ENSP00000456467; ENSG00000103356 [Q5JPH6-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
124454

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:124454

UCSC genome browser

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UCSCi
uc002dlt.5 human [Q5JPH6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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

3D structure databases

ProteinModelPortaliQ5JPH6
SMRiQ5JPH6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125866, 4 interactors
IntActiQ5JPH6, 1 interactor
STRINGi9606.ENSP00000343488

Chemistry databases

DrugBankiDB00142 L-Glutamic Acid

PTM databases

iPTMnetiQ5JPH6
PhosphoSitePlusiQ5JPH6

Polymorphism and mutation databases

BioMutaiEARS2
DMDMi117949790

Proteomic databases

EPDiQ5JPH6
MaxQBiQ5JPH6
PaxDbiQ5JPH6
PeptideAtlasiQ5JPH6
PRIDEiQ5JPH6
ProteomicsDBi63015

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
124454
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
124454
DisGeNETi124454
EuPathDBiHostDB:ENSG00000103356.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EARS2
HGNCiHGNC:29419 EARS2
HPAiHPA043289
HPA043633
MalaCardsiEARS2
MIMi612799 gene
614924 phenotype
neXtProtiNX_Q5JPH6
OpenTargetsiENSG00000103356
Orphaneti314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
PharmGKBiPA144596439

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-379726 Mitochondrial tRNA aminoacylation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
EARS2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
124454

Protein Ontology

More...
PROi
PR:Q5JPH6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000103356 Expressed in 183 organ(s), highest expression level in adrenal tissue
CleanExiHS_EARS2
ExpressionAtlasiQ5JPH6 baseline and differential
GenevisibleiQ5JPH6 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSYEM_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5JPH6
Secondary accession number(s): B3KTT2
, D3DWF1, Q86YH3, Q8TF31
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: December 5, 2018
This is version 124 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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