Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
We will be switching to the new UniProt website on Tuesday, June 28. Please explore and share your feedback. Take me to UniProt BETA

UniProtKB - Q96I59 (SYNM_HUMAN)

Entry version 170 (25 May 2022)
Sequence version 3 (18 May 2010)
Previous versions | rss
Add a publicationFeedback
Protein

Probable asparagine--tRNA ligase, mitochondrial

Gene

NARS2

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%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

<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
Biological processProtein biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		6.1.1.22, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96I59

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q96I59

<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 asparagine--tRNA ligase, mitochondrial (EC:6.1.1.22)
Alternative name(s):
Asparaginyl-tRNA synthetase
Short name:
AsnRS
<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:NARS2
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:26274, NARS2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612803, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96I59

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000137513

<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

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 24 (COXPD24)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter.
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_073250214P → L in COXPD24. 1 PublicationCorresponds to variant dbSNP:rs730882155EnsemblClinVar.1
Natural variantiVAR_082311323 – 477Missing in COXPD24. 1 PublicationAdd BLAST155
Natural variantiVAR_073724381N → S in COXPD24; does not form homodimers; does not affect localization to mitochondrion. 1 PublicationCorresponds to variant dbSNP:rs1565216037EnsemblClinVar.1
Deafness, autosomal recessive, 94 (DFNB94)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073723213V → F in DFNB94; probable loss-of-function variant; unable to rescue mitochondrial respiratory chain defects in NARS2 null fibroblasts; does not affect homodimerization; does not affect localization to mitochondrion. 1 PublicationCorresponds to variant dbSNP:rs756725793EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease variant, Leigh syndrome, Non-syndromic deafness, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		79731

MalaCards human disease database

More...MalaCardsi		NARS2
MIMi616239, phenotype
618434, phenotype

Open Targets

More...OpenTargetsi		ENSG00000137513

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

More...Orphaneti		90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB
444458, Combined oxidative phosphorylation defect type 24

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA143485554

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96I59, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00174, Asparagine

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NARS2

Domain mapping of disease mutations (DMDM)

More...DMDMi		296452944

<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 – 14MitochondrionSequence analysisAdd BLAST14
<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_000025072215 – 477Probable asparagine--tRNA ligase, mitochondrialAdd BLAST463

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 residuei353N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96I59

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96I59

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96I59

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96I59

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

More...PaxDbi		Q96I59

PeptideAtlas

More...PeptideAtlasi		Q96I59

PRoteomics IDEntifications database

More...PRIDEi		Q96I59

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		32283
76813 [Q96I59-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96I59

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

More...PhosphoSitePlusi		Q96I59

<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		ENSG00000137513, Expressed in secondary oocyte and 227 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96I59, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96I59, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000137513, 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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		122846, 74 interactors

Protein interaction database and analysis system

More...IntActi		Q96I59, 35 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000281038

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96I59, 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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q96I59

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

More...SMRi		Q96I59

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

<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-II aminoacyl-tRNA synthetase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0554, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01030000234618

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_004553_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96I59

Identification of Orthologs from Complete Genome Data

More...OMAi		DNMDLAE

Database of Orthologous Groups

More...OrthoDBi		1056670at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96I59

TreeFam database of animal gene trees

More...TreeFami		TF315088

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.40.50.140, 1 hit
3.30.930.10, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_00534, Asn_tRNA_synth, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR004364, Aa-tRNA-synt_II
IPR006195, aa-tRNA-synth_II
IPR045864, aa-tRNA-synth_II/BPL/LPL
IPR004522, Asn-tRNA-ligase
IPR002312, Asp/Asn-tRNA-synth_IIb
IPR012340, NA-bd_OB-fold
IPR004365, NA-bd_OB_tRNA

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00152, tRNA-synt_2, 1 hit
PF01336, tRNA_anti-codon, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01042, TRNASYNTHASP

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50249, SSF50249, 1 hit
SSF55681, SSF55681, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00457, asnS, 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%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.<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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96I59-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MLGVRCLLRS VRFCSSAPFP KHKPSAKLSV RDALGAQNAS GERIKIQGWI 
        60         70         80         90        100
RSVRSQKEVL FLHVNDGSSL ESLQVVADSG LDSRELNFGS SVEVQGQLIK 
       110        120        130        140        150
SPSKRQNVEL KAEKIKVIGN CDAKDFPIKY KERHPLEYLR QYPHFRCRTN 
       160        170        180        190        200
VLGSILRIRS EATAAIHSFF KDSGFVHIHT PIITSNDSEG AGELFQLEPS 
       210        220        230        240        250
GKLKVPEENF FNVPAFLTVS GQLHLEVMSG AFTQVFTFGP TFRAENSQSR 
       260        270        280        290        300
RHLAEFYMIE AEISFVDSLQ DLMQVIEELF KATTMMVLSK CPEDVELCHK 
       310        320        330        340        350
FIAPGQKDRL EHMLKNNFLI ISYTEAVEIL KQASQNFTFT PEWGADLRTE 
       360        370        380        390        400
HEKYLVKHCG NIPVFVINYP LTLKPFYMRD NEDGPQHTVA AVDLLVPGVG 
       410        420        430        440        450
ELFGGGLREE RYHFLEERLA RSGLTEVYQW YLDLRRFGSV PHGGFGMGFE 
       460        470 
RYLQCILGVD NIKDVIPFPR FPHSCLL
Length:477
Mass (Da):54,090
Last modified:May 18, 2010 - v3
<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:i1F4C78E0B6F5500C
GO
Isoform 2 (identifier: Q96I59-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-227: Missing.

Show »
Length:250
Mass (Da):28,783
Checksum:iDF015513014C4FA9
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PRK2E9PRK2_HUMAN
Probable asparagine--tRNA ligase, m...
NARS2
241Annotation 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>
H0YE96H0YE96_HUMAN
Probable asparagine--tRNA ligase, m...
NARS2
81Annotation 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>
H0YEL9H0YEL9_HUMAN
Probable asparagine--tRNA ligase, m...
NARS2
106Annotation 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_05263687N → T1 PublicationCorresponds to variant dbSNP:rs10501429EnsemblClinVar.1
Natural variantiVAR_073723213V → F in DFNB94; probable loss-of-function variant; unable to rescue mitochondrial respiratory chain defects in NARS2 null fibroblasts; does not affect homodimerization; does not affect localization to mitochondrion. 1 PublicationCorresponds to variant dbSNP:rs756725793EnsemblClinVar.1
Natural variantiVAR_073250214P → L in COXPD24. 1 PublicationCorresponds to variant dbSNP:rs730882155EnsemblClinVar.1
Natural variantiVAR_082311323 – 477Missing in COXPD24. 1 PublicationAdd BLAST155
Natural variantiVAR_073724381N → S in COXPD24; does not form homodimers; does not affect localization to mitochondrion. 1 PublicationCorresponds to variant dbSNP:rs1565216037EnsemblClinVar.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_0541201 – 227Missing in isoform 2. CuratedAdd BLAST227

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
AP003086 Genomic DNA No translation available.
AP003110 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW75061.1
BC007800 mRNA Translation: AAH07800.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS58164.1 [Q96I59-2]
CCDS8261.1 [Q96I59-1]

NCBI Reference Sequences

More...RefSeqi		NP_001230180.1, NM_001243251.1 [Q96I59-2]
NP_078954.4, NM_024678.5 [Q96I59-1]
XP_016873792.1, XM_017018303.1 [Q96I59-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000281038.10; ENSP00000281038.5; ENSG00000137513.10
ENST00000528850.5; ENSP00000432635.1; ENSG00000137513.10 [Q96I59-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79731

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79731

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000281038.10; ENSP00000281038.5; NM_024678.6; NP_078954.4

UCSC genome browser

More...UCSCi		uc001ozi.3, human [Q96I59-1]

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
AP003086 Genomic DNA No translation available.
AP003110 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW75061.1
BC007800 mRNA Translation: AAH07800.2
CCDSiCCDS58164.1 [Q96I59-2]
CCDS8261.1 [Q96I59-1]
RefSeqiNP_001230180.1, NM_001243251.1 [Q96I59-2]
NP_078954.4, NM_024678.5 [Q96I59-1]
XP_016873792.1, XM_017018303.1 [Q96I59-2]

3D structure databases

AlphaFoldDBiQ96I59
SMRiQ96I59
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi122846, 74 interactors
IntActiQ96I59, 35 interactors
STRINGi9606.ENSP00000281038

Chemistry databases

DrugBankiDB00174, Asparagine

PTM databases

iPTMnetiQ96I59
PhosphoSitePlusiQ96I59

Genetic variation databases

BioMutaiNARS2
DMDMi296452944

Proteomic databases

EPDiQ96I59
jPOSTiQ96I59
MassIVEiQ96I59
MaxQBiQ96I59
PaxDbiQ96I59
PeptideAtlasiQ96I59
PRIDEiQ96I59
ProteomicsDBi32283
76813 [Q96I59-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		17519, 177 antibodies from 26 providers

The DNASU plasmid repository

More...DNASUi		79731

Genome annotation databases

EnsembliENST00000281038.10; ENSP00000281038.5; ENSG00000137513.10
ENST00000528850.5; ENSP00000432635.1; ENSG00000137513.10 [Q96I59-2]
GeneIDi79731
KEGGihsa:79731
MANE-SelectiENST00000281038.10; ENSP00000281038.5; NM_024678.6; NP_078954.4
UCSCiuc001ozi.3, human [Q96I59-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79731
DisGeNETi79731

GeneCards: human genes, protein and diseases

More...GeneCardsi		NARS2
HGNCiHGNC:26274, NARS2
HPAiENSG00000137513, Low tissue specificity
MalaCardsiNARS2
MIMi612803, gene
616239, phenotype
618434, phenotype
neXtProtiNX_Q96I59
OpenTargetsiENSG00000137513
Orphaneti90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB
444458, Combined oxidative phosphorylation defect type 24
PharmGKBiPA143485554
VEuPathDBiHostDB:ENSG00000137513

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0554, Eukaryota
GeneTreeiENSGT01030000234618
HOGENOMiCLU_004553_2_0_1
InParanoidiQ96I59
OMAiDNMDLAE
OrthoDBi1056670at2759
PhylomeDBiQ96I59
TreeFamiTF315088

Enzyme and pathway databases

BRENDAi6.1.1.22, 2681
PathwayCommonsiQ96I59
ReactomeiR-HSA-379726, Mitochondrial tRNA aminoacylation
SignaLinkiQ96I59

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		79731, 239 hits in 1098 CRISPR screens

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

More...ChiTaRSi		NARS2, human

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

More...GenomeRNAii		79731
PharosiQ96I59, Tbio

Protein Ontology

More...PROi		PR:Q96I59
RNActiQ96I59, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000137513, Expressed in secondary oocyte and 227 other tissues
ExpressionAtlasiQ96I59, baseline and differential
GenevisibleiQ96I59, HS

Family and domain databases

Gene3Di2.40.50.140, 1 hit
3.30.930.10, 1 hit
HAMAPiMF_00534, Asn_tRNA_synth, 1 hit
InterProiView protein in InterPro
IPR004364, Aa-tRNA-synt_II
IPR006195, aa-tRNA-synth_II
IPR045864, aa-tRNA-synth_II/BPL/LPL
IPR004522, Asn-tRNA-ligase
IPR002312, Asp/Asn-tRNA-synth_IIb
IPR012340, NA-bd_OB-fold
IPR004365, NA-bd_OB_tRNA
PfamiView protein in Pfam
PF00152, tRNA-synt_2, 1 hit
PF01336, tRNA_anti-codon, 1 hit
PRINTSiPR01042, TRNASYNTHASP
SUPFAMiSSF50249, SSF50249, 1 hit
SSF55681, SSF55681, 1 hit
TIGRFAMsiTIGR00457, asnS, 1 hit
PROSITEiView protein in PROSITE
PS50862, AA_TRNA_LIGASE_II, 1 hit

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 nameiSYNM_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: Q96I59
Secondary accession number(s): G3V178
<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 3, 2006
Last sequence update: May 18, 2010
Last modified: May 25, 2022
This is version 170 of the entry and version 3 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. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human entries with genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again