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Entry version 170 (16 Oct 2019)
Sequence version 1 (01 Feb 1996)
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Protein

Probable histidine--tRNA ligase, mitochondrial

Gene

HARS2

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

<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 <a href="http://www.uniprot.org/help/function_section">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 sitei158L-histidineBy similarity1
Binding sitei174L-histidineBy similarity1
Binding sitei178L-histidineBy similarity1
Binding sitei327L-histidineBy similarity1

<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
Biological processProtein biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
6.1.1.21 2681

Reactome - a knowledgebase of biological pathways and processes

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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 histidine--tRNA ligase, mitochondrial (EC:6.1.1.21)
Alternative name(s):
Histidine--tRNA ligase-like
Histidyl-tRNA synthetase
Short name:
HisRS
<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:HARS2
Synonyms:HARSL, HARSR, HO3
<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 5

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:4817 HARS2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600783 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P49590

<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

Perrault syndrome 2 (PRLTS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.
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_069532200L → V in PRLTS2; the mutant protein is expressed, can dimerize and localizes to the mitochondria; has significantly decreased enzymatic activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs397515410EnsemblClinVar.1
Natural variantiVAR_069533368V → L in PRLTS2; the mutant protein is expressed, can dimerize and localizes to the mitochondria; has significantly decreased enzymatic activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs376177973EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
23438

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
HARS2

MalaCards human disease database

More...
MalaCardsi
HARS2
MIMi614926 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000112855

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

More...
Orphaneti
2855 Perrault syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29192

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P49590

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HARS2

<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 – 33MitochondrionSequence analysisAdd BLAST33
<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_000013633634 – 506Probable histidine--tRNA ligase, mitochondrialAdd BLAST473

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 residuei67PhosphoserineCombined sources1
Modified residuei444N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P49590

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P49590

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P49590

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P49590

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

More...
PaxDbi
P49590

PeptideAtlas

More...
PeptideAtlasi
P49590

PRoteomics IDEntifications database

More...
PRIDEi
P49590

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
3907
56026 [P49590-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P49590

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

More...
PhosphoSitePlusi
P49590

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

A high level expression is seen in the heart, kidney and skeletal muscle while a lower level expression is seen in the brain and liver.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000112855 Expressed in 218 organ(s), highest expression level in small intestine Peyer's patch

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P49590 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P49590 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035941

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Q6RW133EBI-3909030,EBI-741181

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117006, 64 interactors

Database of interacting proteins

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DIPi
DIP-59626N

Protein interaction database and analysis system

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IntActi
P49590, 32 interactors

Molecular INTeraction database

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MINTi
P49590

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000230771

<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

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SMRi
P49590

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>Regioni131 – 133L-histidine bindingBy similarity3
Regioni331 – 332L-histidine bindingBy similarity2

<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
KOG1936 Eukaryota
COG0124 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000005922

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000018075

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P49590

KEGG Orthology (KO)

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KOi
K01892

Identification of Orthologs from Complete Genome Data

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OMAi
YQIQKVW

Database of Orthologous Groups

More...
OrthoDBi
1065556at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P49590

TreeFam database of animal gene trees

More...
TreeFami
TF300652

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00773 HisRS-like_core, 1 hit
cd00859 HisRS_anticodon, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.800, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006195 aa-tRNA-synth_II
IPR004154 Anticodon-bd
IPR036621 Anticodon-bd_dom_sf
IPR015807 His-tRNA-ligase
IPR041715 HisRS-like_core
IPR004516 HisRS/HisZ
IPR033656 HisRS_anticodon

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03129 HGTP_anticodon, 1 hit
PF13393 tRNA-synt_His, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF001549 His-tRNA_synth, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00442 hisS, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50862 AA_TRNA_LIGASE_II, 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>. 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_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 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P49590-1) [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
MPLLGLLPRR AWASLLSQLL RPPCASCTGA VRCQSQVAEA VLTSQLKAHQ
60 70 80 90 100
EKPNFIIKTP KGTRDLSPQH MVVREKILDL VISCFKRHGA KGMDTPAFEL
110 120 130 140 150
KETLTEKYGE DSGLMYDLKD QGGELLSLRY DLTVPFARYL AMNKVKKMKR
160 170 180 190 200
YHVGKVWRRE SPTIVQGRYR EFCQCDFDIA GQFDPMIPDA ECLKIMCEIL
210 220 230 240 250
SGLQLGDFLI KVNDRRIVDG MFAVCGVPES KFRAICSSID KLDKMAWKDV
260 270 280 290 300
RHEMVVKKGL APEVADRIGD YVQCHGGVSL VEQMFQDPRL SQNKQALEGL
310 320 330 340 350
GDLKLLFEYL TLFGIADKIS FDLSLARGLD YYTGVIYEAV LLQTPTQAGE
360 370 380 390 400
EPLNVGSVAA GGRYDGLVGM FDPKGHKVPC VGLSIGVERI FYIVEQRMKT
410 420 430 440 450
KGEKVRTTET QVFVATPQKN FLQERLKLIA ELWDSGIKAE MLYKNNPKLL
460 470 480 490 500
TQLHYCESTG IPLVVIIGEQ ELKEGVIKIR SVASREEVAI KRENFVAEIQ

KRLSES
Length:506
Mass (Da):56,888
Last modified:February 1, 1996 - v1
<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:iE1CE879837AE26E7
GO
Isoform 2 (identifier: P49590-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-61: Missing.

Show »
Length:481
Mass (Da):54,115
Checksum:i26B2276C1B73911C
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y5P7A0A2R8Y5P7_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
512Annotation 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>
B4DQ67B4DQ67_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
334Annotation 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>
D6RB22D6RB22_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
399Annotation 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>
A0A2R8Y6I1A0A2R8Y6I1_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
436Annotation 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>
A0A2R8Y3N3A0A2R8Y3N3_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
473Annotation 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>
D6RJE6D6RJE6_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
293Annotation 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>
A0A2R8Y4X6A0A2R8Y4X6_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
160Annotation 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>
A0A2R8Y5E8A0A2R8Y5E8_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
219Annotation 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>
D6R9M5D6R9M5_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069532200L → V in PRLTS2; the mutant protein is expressed, can dimerize and localizes to the mitochondria; has significantly decreased enzymatic activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs397515410EnsemblClinVar.1
Natural variantiVAR_069533368V → L in PRLTS2; the mutant protein is expressed, can dimerize and localizes to the mitochondria; has significantly decreased enzymatic activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs376177973EnsemblClinVar.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_05513337 – 61Missing in isoform 2. 1 PublicationAdd BLAST25

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
U18936 Genomic DNA Translation: AAA73972.1
U18937 mRNA Translation: AAA73974.1
AK293390 mRNA Translation: BAG56899.1
AC116353 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW62019.1
BC007680 mRNA Translation: AAH07680.1
BC014982 mRNA Translation: AAH14982.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4238.1 [P49590-1]
CCDS64267.1 [P49590-2]

Protein sequence database of the Protein Information Resource

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PIRi
I38913
I38915

NCBI Reference Sequences

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RefSeqi
NP_001265660.1, NM_001278731.1 [P49590-2]
NP_001265661.1, NM_001278732.1
NP_036340.1, NM_012208.3 [P49590-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000230771; ENSP00000230771; ENSG00000112855 [P49590-1]
ENST00000508522; ENSP00000423616; ENSG00000112855 [P49590-2]
ENST00000645749; ENSP00000494296; ENSG00000112855 [P49590-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23438

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23438

UCSC genome browser

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UCSCi
uc003lgx.5 human [P49590-1]

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
U18936 Genomic DNA Translation: AAA73972.1
U18937 mRNA Translation: AAA73974.1
AK293390 mRNA Translation: BAG56899.1
AC116353 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW62019.1
BC007680 mRNA Translation: AAH07680.1
BC014982 mRNA Translation: AAH14982.1
CCDSiCCDS4238.1 [P49590-1]
CCDS64267.1 [P49590-2]
PIRiI38913
I38915
RefSeqiNP_001265660.1, NM_001278731.1 [P49590-2]
NP_001265661.1, NM_001278732.1
NP_036340.1, NM_012208.3 [P49590-1]

3D structure databases

SMRiP49590
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117006, 64 interactors
DIPiDIP-59626N
IntActiP49590, 32 interactors
MINTiP49590
STRINGi9606.ENSP00000230771

PTM databases

iPTMnetiP49590
PhosphoSitePlusiP49590

Polymorphism and mutation databases

BioMutaiHARS2

Proteomic databases

EPDiP49590
jPOSTiP49590
MassIVEiP49590
MaxQBiP49590
PaxDbiP49590
PeptideAtlasiP49590
PRIDEiP49590
ProteomicsDBi3907
56026 [P49590-1]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
23438

Genome annotation databases

EnsembliENST00000230771; ENSP00000230771; ENSG00000112855 [P49590-1]
ENST00000508522; ENSP00000423616; ENSG00000112855 [P49590-2]
ENST00000645749; ENSP00000494296; ENSG00000112855 [P49590-1]
GeneIDi23438
KEGGihsa:23438
UCSCiuc003lgx.5 human [P49590-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23438
DisGeNETi23438

GeneCards: human genes, protein and diseases

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GeneCardsi
HARS2
GeneReviewsiHARS2
HGNCiHGNC:4817 HARS2
HPAiHPA035941
MalaCardsiHARS2
MIMi600783 gene
614926 phenotype
neXtProtiNX_P49590
OpenTargetsiENSG00000112855
Orphaneti2855 Perrault syndrome
PharmGKBiPA29192

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1936 Eukaryota
COG0124 LUCA
GeneTreeiENSGT00390000005922
HOGENOMiHOG000018075
InParanoidiP49590
KOiK01892
OMAiYQIQKVW
OrthoDBi1065556at2759
PhylomeDBiP49590
TreeFamiTF300652

Enzyme and pathway databases

BRENDAi6.1.1.21 2681
ReactomeiR-HSA-379726 Mitochondrial tRNA aminoacylation

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HARS2

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

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GenomeRNAii
23438
PharosiP49590

Protein Ontology

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PROi
PR:P49590

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000112855 Expressed in 218 organ(s), highest expression level in small intestine Peyer's patch
ExpressionAtlasiP49590 baseline and differential
GenevisibleiP49590 HS

Family and domain databases

CDDicd00773 HisRS-like_core, 1 hit
cd00859 HisRS_anticodon, 1 hit
Gene3Di3.40.50.800, 1 hit
InterProiView protein in InterPro
IPR006195 aa-tRNA-synth_II
IPR004154 Anticodon-bd
IPR036621 Anticodon-bd_dom_sf
IPR015807 His-tRNA-ligase
IPR041715 HisRS-like_core
IPR004516 HisRS/HisZ
IPR033656 HisRS_anticodon
PfamiView protein in Pfam
PF03129 HGTP_anticodon, 1 hit
PF13393 tRNA-synt_His, 1 hit
PIRSFiPIRSF001549 His-tRNA_synth, 1 hit
TIGRFAMsiTIGR00442 hisS, 1 hit
PROSITEiView protein in PROSITE
PS50862 AA_TRNA_LIGASE_II, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiSYHM_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: P49590
Secondary accession number(s): B4DDY8
<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: February 1, 1996
Last sequence update: February 1, 1996
Last modified: October 16, 2019
This is version 170 of the entry and version 1 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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