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UniProtKB - Q6PI48 (SYDM_HUMAN)

Entry version 165 (02 Dec 2020)
Sequence version 1 (05 Jul 2004)
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Protein

Aspartate--tRNA ligase, mitochondrial

Gene

DARS2

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

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 sitei266AspartateBy similarity1
Binding sitei535ATPBy similarity1
Binding sitei542AspartateBy 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 bindingi266 – 268ATPBy similarity3
Nucleotide bindingi584 – 587ATPBy similarity4

<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		6.1.1.12, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6PI48

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:
Aspartate--tRNA ligase, mitochondrial (EC:6.1.1.122 Publications)
Alternative name(s):
Aspartyl-tRNA synthetase
Short name:
AspRS
<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:DARS2
<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 1

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000117593.9

Human Gene Nomenclature Database

More...HGNCi		HGNC:25538, DARS2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610956, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6PI48

<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

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disease and is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.
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_03701545S → G in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918209EnsemblClinVar.1
Natural variantiVAR_037016152C → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918208EnsemblClinVar.1
Natural variantiVAR_037017179R → H in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918210EnsemblClinVar.1
Natural variantiVAR_037018184Q → K in LBSL. 1 PublicationCorresponds to variant dbSNP:rs1469160736Ensembl.1
Natural variantiVAR_037019248Q → K in LBSL. 1 PublicationCorresponds to variant dbSNP:rs772489337Ensembl.1
Natural variantiVAR_037020263R → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918207EnsemblClinVar.1
Natural variantiVAR_037021560D → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs770525873Ensembl.1
Natural variantiVAR_037022613L → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918212EnsemblClinVar.1
Natural variantiVAR_037023626L → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918213EnsemblClinVar.1
Natural variantiVAR_037024626L → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918205EnsemblClinVar.1
Natural variantiVAR_037025629Y → C in LBSL. 1 PublicationCorresponds to variant dbSNP:rs761675657Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		55157

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

More...GeneReviewsi		DARS2

MalaCards human disease database

More...MalaCardsi		DARS2
MIMi611105, phenotype

Open Targets

More...OpenTargetsi		ENSG00000117593

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

More...Orphaneti		137898, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142672015

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6PI48, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00128, Aspartic acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DARS2

Domain mapping of disease mutations (DMDM)

More...DMDMi		74758347

<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 – 47MitochondrionSequence analysisAdd BLAST47
<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_000025073648 – 645Aspartate--tRNA ligase, mitochondrialAdd BLAST598

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 residuei219PhosphothreonineBy similarity1
Modified residuei242PhosphoserineCombined sources1
Modified residuei382N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6PI48

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6PI48

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6PI48

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6PI48

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

More...PaxDbi		Q6PI48

PeptideAtlas

More...PeptideAtlasi		Q6PI48

PRoteomics IDEntifications database

More...PRIDEi		Q6PI48

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		67139

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6PI48

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

More...PhosphoSitePlusi		Q6PI48

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q6PI48

<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		ENSG00000117593, Expressed in heart and 148 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6PI48, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6PI48, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000117593, 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.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120459, 56 interactors

Protein interaction database and analysis system

More...IntActi		Q6PI48, 34 interactors

Molecular INTeraction database

More...MINTi		Q6PI48

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000355086

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6PI48, 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		Q6PI48

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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>Regioni244 – 247AspartateBy similarity4

<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. Type 1 subfamily.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2411, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01010000222368

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_014330_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6PI48

Identification of Orthologs from Complete Genome Data

More...OMAi		YQLDVEM

Database of Orthologous Groups

More...OrthoDBi		697974at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6PI48

TreeFam database of animal gene trees

More...TreeFami		TF314827

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.1360.30, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_00044, Asp_tRNA_synth_type1, 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
IPR004524, Asp-tRNA-ligase_1
IPR002312, Asp/Asn-tRNA-synth_IIb
IPR004115, GAD-like_sf
IPR029351, GAD_dom
IPR012340, NA-bd_OB-fold
IPR004365, NA-bd_OB_tRNA

The PANTHER Classification System

More...PANTHERi		PTHR22594:SF5, PTHR22594:SF5, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02938, GAD, 1 hit
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
SSF55261, SSF55261, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00459, aspS_bact, 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>Sequence (1+)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 has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

Q6PI48-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MYFPSWLSQL YRGLSRPIRR TTQPIWGSLY RSLLQSSQRR IPEFSSFVVR 
        60         70         80         90        100
TNTCGELRSS HLGQEVTLCG WIQYRRQNTF LVLRDFDGLV QVIIPQDESA 
       110        120        130        140        150
ASVKKILCEA PVESVVQVSG TVISRPAGQE NPKMPTGEIE IKVKTAELLN 
       160        170        180        190        200
ACKKLPFEIK NFVKKTEALR LQYRYLDLRS FQMQYNLRLR SQMVMKMREY 
       210        220        230        240        250
LCNLHGFVDI ETPTLFKRTP GGAKEFLVPS REPGKFYSLP QSPQQFKQLL 
       260        270        280        290        300
MVGGLDRYFQ VARCYRDEGS RPDRQPEFTQ IDIEMSFVDQ TGIQSLIEGL 
       310        320        330        340        350
LQYSWPNDKD PVVVPFPTMT FAEVLATYGT DKPDTRFGMK IIDISDVFRN 
       360        370        380        390        400
TEIGFLQDAL SKPHGTVKAI CIPEGAKYLK RKDIESIRNF AADHFNQEIL 
       410        420        430        440        450
PVFLNANRNW NSPVANFIME SQRLELIRLM ETQEEDVVLL TAGEHNKACS 
       460        470        480        490        500
LLGKLRLECA DLLETRGVVL RDPTLFSFLW VVDFPLFLPK EENPRELESA 
       510        520        530        540        550
HHPFTAPHPS DIHLLYTEPK KARSQHYDLV LNGNEIGGGS IRIHNAELQR 
       560        570        580        590        600
YILATLLKED VKMLSHLLQA LDYGAPPHGG IALGLDRLIC LVTGSPSIRD 
       610        620        630        640 
VIAFPKSFRG HDLMSNTPDS VPPEELKPYH IRVSKPTDSK AERAH
Length:645
Mass (Da):73,563
Last modified:July 5, 2004 - 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:i8B668751542F01A1
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IT01A0A3B3IT01_HUMAN
Aspartate--tRNA ligase, mitochondri...
DARS2
594Annotation 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>
A0A3B3ITS3A0A3B3ITS3_HUMAN
Aspartate--tRNA ligase, mitochondri...
DARS2
482Annotation 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>
A0A3B3IS01A0A3B3IS01_HUMAN
Aspartate--tRNA ligase, mitochondri...
DARS2
539Annotation 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>
A0A3B3IS54A0A3B3IS54_HUMAN
Aspartate--tRNA ligase, mitochondri...
DARS2
484Annotation 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>
A0A3B3ISK7A0A3B3ISK7_HUMAN
Aspartate--tRNA ligase, mitochondri...
DARS2
624Annotation 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>
A0A3B3ITK9A0A3B3ITK9_HUMAN
Aspartate--tRNA ligase, mitochondri...
DARS2
295Annotation 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>
A0A3B3IT89A0A3B3IT89_HUMAN
Aspartate--tRNA ligase, mitochondri...
DARS2
80Annotation 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_02761210L → V. Corresponds to variant dbSNP:rs4427454Ensembl.1
Natural variantiVAR_03701545S → G in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918209EnsemblClinVar.1
Natural variantiVAR_037016152C → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918208EnsemblClinVar.1
Natural variantiVAR_037017179R → H in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918210EnsemblClinVar.1
Natural variantiVAR_037018184Q → K in LBSL. 1 PublicationCorresponds to variant dbSNP:rs1469160736Ensembl.1
Natural variantiVAR_034525196K → R. Corresponds to variant dbSNP:rs35515638EnsemblClinVar.1
Natural variantiVAR_037019248Q → K in LBSL. 1 PublicationCorresponds to variant dbSNP:rs772489337Ensembl.1
Natural variantiVAR_037020263R → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918207EnsemblClinVar.1
Natural variantiVAR_037021560D → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs770525873Ensembl.1
Natural variantiVAR_037022613L → F in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918212EnsemblClinVar.1
Natural variantiVAR_037023626L → Q in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918213EnsemblClinVar.1
Natural variantiVAR_037024626L → V in LBSL. 1 PublicationCorresponds to variant dbSNP:rs121918205EnsemblClinVar.1
Natural variantiVAR_037025629Y → C in LBSL. 1 PublicationCorresponds to variant dbSNP:rs761675657Ensembl.1

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
AL109921 Genomic DNA No translation available.
BC045173 mRNA Translation: AAH45173.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1311.1

NCBI Reference Sequences

More...RefSeqi		NP_060592.2, NM_018122.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000649689; ENSP00000497569; ENSG00000117593

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55157

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55157

UCSC genome browser

More...UCSCi		uc001gjh.3, human

Keywords - Coding sequence diversityi

Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL109921 Genomic DNA No translation available.
BC045173 mRNA Translation: AAH45173.1
CCDSiCCDS1311.1
RefSeqiNP_060592.2, NM_018122.4

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4AH6X-ray3.70A/B/C/D41-645[»]
SMRiQ6PI48
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120459, 56 interactors
IntActiQ6PI48, 34 interactors
MINTiQ6PI48
STRINGi9606.ENSP00000355086

Chemistry databases

DrugBankiDB00128, Aspartic acid

PTM databases

iPTMnetiQ6PI48
PhosphoSitePlusiQ6PI48
SwissPalmiQ6PI48

Polymorphism and mutation databases

BioMutaiDARS2
DMDMi74758347

Proteomic databases

EPDiQ6PI48
jPOSTiQ6PI48
MassIVEiQ6PI48
MaxQBiQ6PI48
PaxDbiQ6PI48
PeptideAtlasiQ6PI48
PRIDEiQ6PI48
ProteomicsDBi67139

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		20564, 170 antibodies

Genome annotation databases

EnsembliENST00000649689; ENSP00000497569; ENSG00000117593
GeneIDi55157
KEGGihsa:55157
UCSCiuc001gjh.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55157
DisGeNETi55157
EuPathDBiHostDB:ENSG00000117593.9

GeneCards: human genes, protein and diseases

More...GeneCardsi		DARS2
GeneReviewsiDARS2
HGNCiHGNC:25538, DARS2
HPAiENSG00000117593, Low tissue specificity
MalaCardsiDARS2
MIMi610956, gene
611105, phenotype
neXtProtiNX_Q6PI48
OpenTargetsiENSG00000117593
Orphaneti137898, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
PharmGKBiPA142672015

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2411, Eukaryota
GeneTreeiENSGT01010000222368
HOGENOMiCLU_014330_3_1_1
InParanoidiQ6PI48
OMAiYQLDVEM
OrthoDBi697974at2759
PhylomeDBiQ6PI48
TreeFamiTF314827

Enzyme and pathway databases

BRENDAi6.1.1.12, 2681
PathwayCommonsiQ6PI48
ReactomeiR-HSA-379726, Mitochondrial tRNA aminoacylation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55157, 187 hits in 848 CRISPR screens

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

More...ChiTaRSi		DARS2, human

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

More...GenomeRNAii		55157
PharosiQ6PI48, Tbio

Protein Ontology

More...PROi		PR:Q6PI48
RNActiQ6PI48, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000117593, Expressed in heart and 148 other tissues
ExpressionAtlasiQ6PI48, baseline and differential
GenevisibleiQ6PI48, HS

Family and domain databases

Gene3Di3.30.1360.30, 1 hit
HAMAPiMF_00044, Asp_tRNA_synth_type1, 1 hit
InterProiView protein in InterPro
IPR004364, Aa-tRNA-synt_II
IPR006195, aa-tRNA-synth_II
IPR004524, Asp-tRNA-ligase_1
IPR002312, Asp/Asn-tRNA-synth_IIb
IPR004115, GAD-like_sf
IPR029351, GAD_dom
IPR012340, NA-bd_OB-fold
IPR004365, NA-bd_OB_tRNA
PANTHERiPTHR22594:SF5, PTHR22594:SF5, 1 hit
PfamiView protein in Pfam
PF02938, GAD, 1 hit
PF00152, tRNA-synt_2, 1 hit
PF01336, tRNA_anti-codon, 1 hit
PRINTSiPR01042, TRNASYNTHASP
SUPFAMiSSF50249, SSF50249, 1 hit
SSF55261, SSF55261, 1 hit
TIGRFAMsiTIGR00459, aspS_bact, 1 hit
PROSITEiView protein in PROSITE
PS50862, AA_TRNA_LIGASE_II, 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 nameiSYDM_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: Q6PI48
<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: July 5, 2004
Last modified: December 2, 2020
This is version 165 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

3D-structure, Reference proteome

Documents

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