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Entry version 140 (12 Aug 2020)
Sequence version 1 (15 Feb 2005)
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Protein

Alanine--tRNA ligase, mitochondrial

Gene

AARS2

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

Annotation score:5 out of 5

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

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

Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain.UniRule annotation

<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>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+UniRule annotationNote: Binds 1 zinc ion per subunit.UniRule annotation

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 sitei110ATPBy similarity1
Binding sitei128ATP; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei210ATPBy similarity1
Binding sitei242L-alanineBy similarity1
Binding sitei265L-alanineBy similarity1
Binding sitei269ATP; via amide nitrogenBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi632ZincUniRule annotation1
Metal bindingi636ZincUniRule annotation1
Metal bindingi749ZincUniRule annotation1
Metal bindingi753ZincUniRule annotation1

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 bindingi240 – 242ATPBy similarity3

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

GO - Biological processi

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

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

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
6.1.1.7, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q5JTZ9

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:
Alanine--tRNA ligase, mitochondrialUniRule annotation (EC:6.1.1.7UniRule annotation)
Alternative name(s):
Alanyl-tRNA synthetaseUniRule annotation
Short name:
AlaRSUniRule annotation
<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:AARS2UniRule annotation
Synonyms:AARSL, KIAA1270
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000124608.4

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21022, AARS2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612035, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5JTZ9

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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

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

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

Combined oxidative phosphorylation deficiency 8 (COXPD8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected.
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_065956155L → R in COXPD8. 1 PublicationCorresponds to variant dbSNP:rs387907061EnsemblClinVar.1
Natural variantiVAR_065957592R → W in COXPD8. 1 PublicationCorresponds to variant dbSNP:rs138119149EnsemblClinVar.1
Leukoencephalopathy, progressive, with ovarian failure (LKENP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurodegenerative disorder characterized by childhood- to adulthood-onset of signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with striking involvement of deep white matter, and cerebellar atrophy. All female patients develop premature ovarian failure.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07183750F → C in LKENP; deleterious only under stress conditions. 1 PublicationCorresponds to variant dbSNP:rs587777590EnsemblClinVar.1
Natural variantiVAR_071841405E → K in LKENP. 1 PublicationCorresponds to variant dbSNP:rs587777592EnsemblClinVar.1
Natural variantiVAR_071843965G → R in LKENP. 1 PublicationCorresponds to variant dbSNP:rs543267101EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Neurodegeneration, Premature ovarian failure, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
57505

MalaCards human disease database

More...
MalaCardsi
AARS2
MIMi614096, phenotype
615889, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000124608

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

More...
Orphaneti
319504, Combined oxidative phosphorylation defect type 8
313808, Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
99853, Ovarioleukodystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162375129

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5JTZ9, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00160, Alanine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AARS2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74742244

<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 – 23MitochondrionUniRule annotationAdd BLAST23
<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_000025072524 – 985Alanine--tRNA ligase, mitochondrialAdd BLAST962

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q5JTZ9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q5JTZ9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q5JTZ9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q5JTZ9

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

More...
PaxDbi
Q5JTZ9

PeptideAtlas

More...
PeptideAtlasi
Q5JTZ9

PRoteomics IDEntifications database

More...
PRIDEi
Q5JTZ9

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
63245

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q5JTZ9

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5JTZ9

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

More...
PhosphoSitePlusi
Q5JTZ9

<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

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Bgeei
ENSG00000124608, Expressed in amniotic fluid and 215 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q5JTZ9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000124608, 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

Monomer.

UniRule annotation

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
121569, 56 interactors

Protein interaction database and analysis system

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IntActi
Q5JTZ9, 33 interactors

Molecular INTeraction database

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MINTi
Q5JTZ9

STRING: functional protein association networks

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STRINGi
9606.ENSP00000244571

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5JTZ9, 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

Secondary structure

1985
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q5JTZ9

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

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs.UniRule annotation

<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.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0188, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000158246

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_004485_5_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5JTZ9

KEGG Orthology (KO)

More...
KOi
K01872

Identification of Orthologs from Complete Genome Data

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OMAi
DTEACCG

Database of Orthologous Groups

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OrthoDBi
129373at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5JTZ9

TreeFam database of animal gene trees

More...
TreeFami
TF300737

Family and domain databases

HAMAP database of protein families

More...
HAMAPi
MF_00036_B, Ala_tRNA_synth_B, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002318, Ala-tRNA-lgiase_IIc
IPR018162, Ala-tRNA-ligase_IIc_anticod-bd
IPR018165, Ala-tRNA-synth_IIc_core
IPR018164, Ala-tRNA-synth_IIc_N
IPR023033, Ala_tRNA_ligase_euk/bac
IPR018163, Thr/Ala-tRNA-synth_IIc_edit
IPR009000, Transl_B-barrel_sf
IPR012947, tRNA_SAD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01411, tRNA-synt_2c, 1 hit
PF07973, tRNA_SAD, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00980, TRNASYNTHALA

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00863, tRNA_SAD, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF101353, SSF101353, 1 hit
SSF50447, SSF50447, 1 hit
SSF55186, SSF55186, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00344, alaS, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50860, AA_TRNA_LIGASE_II_ALA, 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>Sequencei

<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.

Q5JTZ9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAASVAAAAR RLRRAIRRSP AWRGLSHRPL SSEPPAAKAS AVRAAFLNFF
60 70 80 90 100
RDRHGHRLVP SASVRPRGDP SLLFVNAGMN QFKPIFLGTV DPRSEMAGFR
110 120 130 140 150
RVANSQKCVR AGGHHNDLED VGRDLSHHTF FEMLGNWAFG GEYFKEEACN
160 170 180 190 200
MAWELLTQVY GIPEERLWIS YFDGDPKAGL DPDLETRDIW LSLGVPASRV
210 220 230 240 250
LSFGPQENFW EMGDTGPCGP CTEIHYDLAG GVGAPQLVEL WNLVFMQHNR
260 270 280 290 300
EADGSLQPLP QRHVDTGMGL ERLVAVLQGK HSTYDTDLFS PLLNAIQQGC
310 320 330 340 350
RAPPYLGRVG VADEGRTDTA YRVVADHIRT LSVCISDGIF PGMSGPPLVL
360 370 380 390 400
RRILRRAVRF SMEILKAPPG FLGSLVPVVV ETLGDAYPEL QRNSAQIANL
410 420 430 440 450
VSEDEAAFLA SLERGRRIID RTLRTLGPSD MFPAEVAWSL SLCGDLGLPL
460 470 480 490 500
DMVELMLEEK GVQLDSAGLE RLAQEEAQHR ARQAEPVQKQ GLWLDVHALG
510 520 530 540 550
ELQRQGVPPT DDSPKYNYSL RPSGSYEFGT CEAQVLQLYT EDGTAVASVG
560 570 580 590 600
KGQRCGLLLD RTNFYAEQGG QASDRGYLVR AGQEDVLFPV ARAQVCGGFI
610 620 630 640 650
LHEAVAPECL RLGDQVQLHV DEAWRLGCMA KHTATHLLNW ALRQTLGPGT
660 670 680 690 700
EQQGSHLNPE QLRLDVTTQT PLTPEQLRAV ENTVQEAVGQ DEAVYMEEVP
710 720 730 740 750
LALTAQVPGL RSLDEVYPDP VRVVSVGVPV AHALDPASQA ALQTSVELCC
760 770 780 790 800
GTHLLRTGAV GDLVIIGDRQ LSKGTTRLLA VTGEQAQQAR ELGQSLAQEV
810 820 830 840 850
KAATERLSLG SRDVAEALRL SKDIGRLIEA VETAVMPQWQ RRELLATVKM
860 870 880 890 900
LQRRANTAIR KLQMGQAAKK TQELLERHSK GPLIVDTVSA ESLSVLVKVV
910 920 930 940 950
RQLCEQAPST SVLLLSPQPM GKVLCACQVA QGAMPTFTAE AWALAVCSHM
960 970 980
GGKAWGSRVV AQGTGSTTDL EAALSIAQTY ALSQL
Length:985
Mass (Da):107,340
Last modified:February 15, 2005 - 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:i721368BD05474F86
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA86584 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07183750F → C in LKENP; deleterious only under stress conditions. 1 PublicationCorresponds to variant dbSNP:rs587777590EnsemblClinVar.1
Natural variantiVAR_07183877A → V Found in patient with leukoencephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375949891Ensembl.1
Natural variantiVAR_071839131Missing Found in patient with leukoencephalopathy; unknown pathological significance. 1 Publication1
Natural variantiVAR_065956155L → R in COXPD8. 1 PublicationCorresponds to variant dbSNP:rs387907061EnsemblClinVar.1
Natural variantiVAR_071840199R → C Found in patient with leukoencephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200105202EnsemblClinVar.1
Natural variantiVAR_027609339I → V2 PublicationsCorresponds to variant dbSNP:rs324136Ensembl.1
Natural variantiVAR_071841405E → K in LKENP. 1 PublicationCorresponds to variant dbSNP:rs587777592EnsemblClinVar.1
Natural variantiVAR_027610484A → D. Corresponds to variant dbSNP:rs495294Ensembl.1
Natural variantiVAR_065957592R → W in COXPD8. 1 PublicationCorresponds to variant dbSNP:rs138119149EnsemblClinVar.1
Natural variantiVAR_071842730V → M1 PublicationCorresponds to variant dbSNP:rs35623954EnsemblClinVar.1
Natural variantiVAR_057357850M → V. Corresponds to variant dbSNP:rs35783144EnsemblClinVar.1
Natural variantiVAR_071843965G → R in LKENP. 1 PublicationCorresponds to variant dbSNP:rs543267101EnsemblClinVar.1

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
AB033096 mRNA Translation: BAA86584.1 Different initiation.
AL353588 Genomic DNA No translation available.
BC013593 mRNA Translation: AAH13593.1
BC033169 mRNA Translation: AAH33169.1
BC131728 mRNA Translation: AAI31729.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS34464.1

NCBI Reference Sequences

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RefSeqi
NP_065796.1, NM_020745.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000244571; ENSP00000244571; ENSG00000124608

Database of genes from NCBI RefSeq genomes

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GeneIDi
57505

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57505

UCSC genome browser

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UCSCi
uc010jza.2, 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
AB033096 mRNA Translation: BAA86584.1 Different initiation.
AL353588 Genomic DNA No translation available.
BC013593 mRNA Translation: AAH13593.1
BC033169 mRNA Translation: AAH33169.1
BC131728 mRNA Translation: AAI31729.1
CCDSiCCDS34464.1
RefSeqiNP_065796.1, NM_020745.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6NLQX-ray1.15A/B/C/D873-985[»]
6NLYX-ray2.31A/B/C/D802-985[»]
6NOWX-ray4.10A/B783-985[»]
SMRiQ5JTZ9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi121569, 56 interactors
IntActiQ5JTZ9, 33 interactors
MINTiQ5JTZ9
STRINGi9606.ENSP00000244571

Chemistry databases

DrugBankiDB00160, Alanine

PTM databases

iPTMnetiQ5JTZ9
PhosphoSitePlusiQ5JTZ9

Polymorphism and mutation databases

BioMutaiAARS2
DMDMi74742244

Proteomic databases

EPDiQ5JTZ9
jPOSTiQ5JTZ9
MassIVEiQ5JTZ9
MaxQBiQ5JTZ9
PaxDbiQ5JTZ9
PeptideAtlasiQ5JTZ9
PRIDEiQ5JTZ9
ProteomicsDBi63245
TopDownProteomicsiQ5JTZ9

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
46060, 120 antibodies

Genome annotation databases

EnsembliENST00000244571; ENSP00000244571; ENSG00000124608
GeneIDi57505
KEGGihsa:57505
UCSCiuc010jza.2, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57505
DisGeNETi57505
EuPathDBiHostDB:ENSG00000124608.4

GeneCards: human genes, protein and diseases

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GeneCardsi
AARS2
HGNCiHGNC:21022, AARS2
HPAiENSG00000124608, Low tissue specificity
MalaCardsiAARS2
MIMi612035, gene
614096, phenotype
615889, phenotype
neXtProtiNX_Q5JTZ9
OpenTargetsiENSG00000124608
Orphaneti319504, Combined oxidative phosphorylation defect type 8
313808, Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
99853, Ovarioleukodystrophy
PharmGKBiPA162375129

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0188, Eukaryota
GeneTreeiENSGT00940000158246
HOGENOMiCLU_004485_5_0_1
InParanoidiQ5JTZ9
KOiK01872
OMAiDTEACCG
OrthoDBi129373at2759
PhylomeDBiQ5JTZ9
TreeFamiTF300737

Enzyme and pathway databases

BRENDAi6.1.1.7, 2681
PathwayCommonsiQ5JTZ9
ReactomeiR-HSA-379726, Mitochondrial tRNA aminoacylation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
57505, 377 hits in 875 CRISPR screens

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

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ChiTaRSi
AARS2, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
AARS2

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

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GenomeRNAii
57505
PharosiQ5JTZ9, Tbio

Protein Ontology

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PROi
PR:Q5JTZ9
RNActiQ5JTZ9, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000124608, Expressed in amniotic fluid and 215 other tissues
GenevisibleiQ5JTZ9, HS

Family and domain databases

HAMAPiMF_00036_B, Ala_tRNA_synth_B, 1 hit
InterProiView protein in InterPro
IPR002318, Ala-tRNA-lgiase_IIc
IPR018162, Ala-tRNA-ligase_IIc_anticod-bd
IPR018165, Ala-tRNA-synth_IIc_core
IPR018164, Ala-tRNA-synth_IIc_N
IPR023033, Ala_tRNA_ligase_euk/bac
IPR018163, Thr/Ala-tRNA-synth_IIc_edit
IPR009000, Transl_B-barrel_sf
IPR012947, tRNA_SAD
PfamiView protein in Pfam
PF01411, tRNA-synt_2c, 1 hit
PF07973, tRNA_SAD, 1 hit
PRINTSiPR00980, TRNASYNTHALA
SMARTiView protein in SMART
SM00863, tRNA_SAD, 1 hit
SUPFAMiSSF101353, SSF101353, 1 hit
SSF50447, SSF50447, 1 hit
SSF55186, SSF55186, 1 hit
TIGRFAMsiTIGR00344, alaS, 1 hit
PROSITEiView protein in PROSITE
PS50860, AA_TRNA_LIGASE_II_ALA, 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 nameiSYAM_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: Q5JTZ9
Secondary accession number(s): A2RRN5
, Q8N198, Q96D02, Q9ULF0
<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: February 15, 2005
Last modified: August 12, 2020
This is version 140 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 chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
  7. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
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