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UniProtKB - Q5JPH6 (SYEM_HUMAN)

Entry version 139 (10 Feb 2021)
Sequence version 2 (31 Oct 2006)
Previous versions | rss
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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%5Fsection">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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q5JPH6

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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000103356.15

<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 & Seán O’Donoghue; 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 variants 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 OMIM
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:rs1021330566EnsemblClinVar.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 variant, 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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q5JPH6, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00142, Glutamic acid

Genetic variation 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 or proteolytic cleavage.<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

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q5JPH6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		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

More...PRIDEi		Q5JPH6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		63015 [Q5JPH6-1]

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 muscle tissue and 199 other tissues

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		ENSG00000103356, Low tissue specificity

<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)

More...BioGRIDi		125866, 16 interactors

Protein interaction database and analysis system

More...IntActi		Q5JPH6, 4 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000395196

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q5JPH6, protein

<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

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

More...SMRi		Q5JPH6

Database of comparative protein structure models

More...ModBasei		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

Belongs to the class-I aminoacyl-tRNA synthetase family. Glutamate--tRNA ligase type 1 subfamily.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1149, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000009759

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_015768_6_3_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q5JPH6

Identification of Orthologs from Complete Genome Data

More...OMAi		HYINTLP

Database of Orthologous Groups

More...OrthoDBi		879920at2759

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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

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
Glutamyl-tRNA synthetase
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>
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>
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>

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:rs1021330566EnsemblClinVar.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.<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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

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

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000449606; ENSP00000395196; ENSG00000103356 [Q5JPH6-1]
ENST00000563232; ENSP00000456218; ENSG00000103356 [Q5JPH6-2]
ENST00000674054; ENSP00000501251; ENSG00000103356 [Q5JPH6-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		124454

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:124454

UCSC genome browser

More...UCSCi		uc002dlt.5, human [Q5JPH6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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]

3D structure databases

SMRiQ5JPH6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi125866, 16 interactors
IntActiQ5JPH6, 4 interactors
STRINGi9606.ENSP00000395196

Chemistry databases

DrugBankiDB00142, Glutamic acid

PTM databases

iPTMnetiQ5JPH6
PhosphoSitePlusiQ5JPH6

Genetic variation databases

BioMutaiEARS2
DMDMi117949790

Proteomic databases

EPDiQ5JPH6
jPOSTiQ5JPH6
MassIVEiQ5JPH6
MaxQBiQ5JPH6
PaxDbiQ5JPH6
PeptideAtlasiQ5JPH6
PRIDEiQ5JPH6
ProteomicsDBi63015 [Q5JPH6-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		25969, 116 antibodies

The DNASU plasmid repository

More...DNASUi		124454

Genome annotation databases

EnsembliENST00000449606; ENSP00000395196; ENSG00000103356 [Q5JPH6-1]
ENST00000563232; ENSP00000456218; ENSG00000103356 [Q5JPH6-2]
ENST00000674054; ENSP00000501251; ENSG00000103356 [Q5JPH6-1]
GeneIDi124454
KEGGihsa:124454
UCSCiuc002dlt.5, human [Q5JPH6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		124454
DisGeNETi124454

GeneCards: human genes, protein and diseases

More...GeneCardsi		EARS2
HGNCiHGNC:29419, EARS2
HPAiENSG00000103356, Low tissue specificity
MalaCardsiEARS2
MIMi612799, gene
614924, phenotype
neXtProtiNX_Q5JPH6
OpenTargetsiENSG00000103356
Orphaneti314051, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
PharmGKBiPA144596439
VEuPathDBiHostDB:ENSG00000103356.15

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1149, Eukaryota
GeneTreeiENSGT00390000009759
HOGENOMiCLU_015768_6_3_1
InParanoidiQ5JPH6
OMAiHYINTLP
OrthoDBi879920at2759
PhylomeDBiQ5JPH6
TreeFamiTF313268

Enzyme and pathway databases

PathwayCommonsiQ5JPH6
ReactomeiR-HSA-379726, Mitochondrial tRNA aminoacylation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		124454, 333 hits in 876 CRISPR screens

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
PharosiQ5JPH6, Tbio

Protein Ontology

More...PROi		PR:Q5JPH6
RNActiQ5JPH6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000103356, Expressed in muscle tissue and 199 other tissues
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...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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%5Fand%5Fisoforms">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: February 10, 2021
This is version 139 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

Reference proteome

Documents

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