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Entry version 199 (29 Sep 2021)
Sequence version 2 (03 Oct 2006)
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Protein

Alanine--tRNA ligase, cytoplasmic

Gene

AARS1

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) (PubMed:27622773, PubMed:27911835, PubMed:28493438).

Also edits incorrectly charged tRNA(Ala) via its editing domain (PubMed:27622773, PubMed:27911835, PubMed:28493438).

UniRule annotation3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<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

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

kcat is 0.4 sec(-1).1 Publication
  1. KM=3.1 µM for tRNA(Ala) (at 37 Celsius)1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei77ATPCombined sources2 Publications1
Binding sitei95ATP; via amide nitrogen and carbonyl oxygenCombined sources2 Publications1
Binding sitei176ATPCombined sources2 Publications1
Binding sitei216L-alanineCombined sources2 Publications1
Binding sitei239L-alanineCombined sources2 Publications1
Binding sitei243ATP; via amide nitrogenCombined sources2 Publications1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 bindingi605ZincUniRule annotation1
Metal bindingi609ZincUniRule annotation1
Metal bindingi723ZincUniRule annotation1
Metal bindingi727ZincUniRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 bindingi214 – 216ATPCombined sources2 Publications3

<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

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P49588

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-379716, Cytosolic tRNA aminoacylation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Alanine--tRNA ligase, cytoplasmicUniRule annotation (EC:6.1.1.7UniRule annotation4 Publications)
Alternative name(s):
Alanyl-tRNA synthetaseUniRule annotation
Short name:
AlaRSUniRule annotation
Renal carcinoma antigen NY-REN-42
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AARS1
Synonyms:AARSUniRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:20, AARS1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601065, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P49588

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000090861

<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

Cytoplasm

<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

Charcot-Marie-Tooth disease 2N (CMT2N)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
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_06708471N → Y in CMT2N. 1 PublicationCorresponds to variant dbSNP:rs387906792EnsemblClinVar.1
Natural variantiVAR_063527329R → H in CMT2N; severely reduces enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs267606621EnsemblClinVar.1
Developmental and epileptic encephalopathy 29 (DEE29)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE29 patients manifest severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07371981K → T in DEE29; hypomorphic allele; results in only 2-fold reduction in aminoacylation efficiency. 1 PublicationCorresponds to variant dbSNP:rs786205157EnsemblClinVar.1
Natural variantiVAR_073720751R → G in DEE29; results in 10-fold reduction in aminoacylation efficiency. 1 PublicationCorresponds to variant dbSNP:rs143370729EnsemblClinVar.1
Natural variantiVAR_079703913G → D in DEE29; decreases protein abundance; decreases aminoacylation activity; no effect on the editing activity. 1 PublicationCorresponds to variant dbSNP:rs369774476EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi448A → Q: Decreases misincorporation of Cys instead of Ala. 1 Publication1
Mutagenesisi723C → A: Decreases editing activity. 1 Publication1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease variant, Epilepsy, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
16

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

More...
GeneReviewsi
AARS1

MalaCards human disease database

More...
MalaCardsi
AARS1
MIMi613287, phenotype
616339, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000090861

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

More...
Orphaneti
228174, Autosomal dominant Charcot-Marie-Tooth disease type 2N
442835, Non-specific early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24367

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P49588, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3574

Drug and drug target database

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DrugBanki
DB00160, Alanine

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AARS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
115502460

<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 polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000752811 – 968Alanine--tRNA ligase, cytoplasmicAdd BLAST968

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 residuei1N-acetylmethionineUniRule annotationCombined sources1 Publication1
Modified residuei3PhosphoserineCombined sources1
Modified residuei8PhosphoserineCombined sources1
Modified residuei19N6-acetyllysineCombined sources1
Modified residuei399PhosphoserineCombined sources1
Modified residuei555PhosphoserineCombined sources1
Modified residuei876N6-acetyllysineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

ISGylated.UniRule annotation1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

The CPTAC Assay portal

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CPTACi
CPTAC-1
CPTAC-2

Encyclopedia of Proteome Dynamics

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EPDi
P49588

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P49588

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P49588

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P49588

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

More...
PaxDbi
P49588

PeptideAtlas

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PeptideAtlasi
P49588

PRoteomics IDEntifications database

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PRIDEi
P49588

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
56022 [P49588-1]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
P49588, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P49588

MetOSite database of methionine sulfoxide sites

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MetOSitei
P49588

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

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PhosphoSitePlusi
P49588

SwissPalm database of S-palmitoylation events

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SwissPalmi
P49588

<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
ENSG00000090861, Expressed in frontal cortex and 252 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P49588, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P49588, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000090861, 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_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (PubMed:27911835).

Interacts with ANKRD16; the interaction is direct (By similarity).

UniRule annotation1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
106534, 93 interactors

Protein interaction database and analysis system

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IntActi
P49588, 20 interactors

Molecular INTeraction database

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MINTi
P49588

STRING: functional protein association networks

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STRINGi
9606.ENSP00000261772

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P49588

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P49588, 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

1968
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
P49588

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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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
The C-terminal C-Ala domain (residues 756 to 968) is not required for catalytic activity and can bind DNA (in vitro) (PubMed:27911835). The C-terminal C-Ala domain (residues 756 to 968), along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs. The human domain can be used in vitro to replace the corresponding domain in E.coli (PubMed:19661429).2 Publications

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0188, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000157335

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_004485_5_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P49588

Identification of Orthologs from Complete Genome Data

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OMAi
YHHTMFE

Database of Orthologous Groups

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OrthoDBi
129373at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P49588

TreeFam database of animal gene trees

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TreeFami
TF300737

Family and domain databases

HAMAP database of protein families

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HAMAPi
MF_00036_B, Ala_tRNA_synth_B, 1 hit

Integrated resource of protein families, domains and functional sites

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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
IPR003156, DHHA1_dom
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
PF02272, DHHA1, 1 hit
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

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

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 17 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P49588-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDSTLTASEI RQRFIDFFKR NEHTYVHSSA TIPLDDPTLL FANAGMNQFK
60 70 80 90 100
PIFLNTIDPS HPMAKLSRAA NTQKCIRAGG KHNDLDDVGK DVYHHTFFEM
110 120 130 140 150
LGSWSFGDYF KELACKMALE LLTQEFGIPI ERLYVTYFGG DEAAGLEADL
160 170 180 190 200
ECKQIWQNLG LDDTKILPGN MKDNFWEMGD TGPCGPCSEI HYDRIGGRDA
210 220 230 240 250
AHLVNQDDPN VLEIWNLVFI QYNREADGIL KPLPKKSIDT GMGLERLVSV
260 270 280 290 300
LQNKMSNYDT DLFVPYFEAI QKGTGARPYT GKVGAEDADG IDMAYRVLAD
310 320 330 340 350
HARTITVALA DGGRPDNTGR GYVLRRILRR AVRYAHEKLN ASRGFFATLV
360 370 380 390 400
DVVVQSLGDA FPELKKDPDM VKDIINEEEV QFLKTLSRGR RILDRKIQSL
410 420 430 440 450
GDSKTIPGDT AWLLYDTYGF PVDLTGLIAE EKGLVVDMDG FEEERKLAQL
460 470 480 490 500
KSQGKGAGGE DLIMLDIYAI EELRARGLEV TDDSPKYNYH LDSSGSYVFE
510 520 530 540 550
NTVATVMALR REKMFVEEVS TGQECGVVLD KTCFYAEQGG QIYDEGYLVK
560 570 580 590 600
VDDSSEDKTE FTVKNAQVRG GYVLHIGTIY GDLKVGDQVW LFIDEPRRRP
610 620 630 640 650
IMSNHTATHI LNFALRSVLG EADQKGSLVA PDRLRFDFTA KGAMSTQQIK
660 670 680 690 700
KAEEIANEMI EAAKAVYTQD CPLAAAKAIQ GLRAVFDETY PDPVRVVSIG
710 720 730 740 750
VPVSELLDDP SGPAGSLTSV EFCGGTHLRN SSHAGAFVIV TEEAIAKGIR
760 770 780 790 800
RIVAVTGAEA QKALRKAESL KKCLSVMEAK VKAQTAPNKD VQREIADLGE
810 820 830 840 850
ALATAVIPQW QKDELRETLK SLKKVMDDLD RASKADVQKR VLEKTKQFID
860 870 880 890 900
SNPNQPLVIL EMESGASAKA LNEALKLFKM HSPQTSAMLF TVDNEAGKIT
910 920 930 940 950
CLCQVPQNAA NRGLKASEWV QQVSGLMDGK GGGKDVSAQA TGKNVGCLQE
960
ALQLATSFAQ LRLGDVKN
Length:968
Mass (Da):106,810
Last modified:October 3, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8683F111CEE42506
GO
Isoform 2 (identifier: P49588-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     160-160: G → GTYLYSFVR
     869-869: K → KATQGPGSPPLGLISSL

Show »
Length:992
Mass (Da):109,317
Checksum:i35B75F8D8FFBA3CD
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 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BPK7H3BPK7_HUMAN
Alanine--tRNA ligase
AARS1 AARS
999Annotation score:

Annotation score:3 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>
A0A6Q8PF33A0A6Q8PF33_HUMAN
Alanine--tRNA ligase
AARS1 AARS
961Annotation score:

Annotation score:3 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>
A0A6Q8PFY2A0A6Q8PFY2_HUMAN
Alanine--tRNA ligase
AARS1 AARS
977Annotation score:

Annotation score:3 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>
A0A6Q8PGE8A0A6Q8PGE8_HUMAN
Alanine--tRNA ligase
AARS1 AARS
959Annotation score:

Annotation score:3 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>
A0A6Q8PGN5A0A6Q8PGN5_HUMAN
Alanine--tRNA ligase
AARS1 AARS
984Annotation score:

Annotation score:3 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>
A0A6Q8PGR9A0A6Q8PGR9_HUMAN
Alanine--tRNA ligase
AARS1 AARS
940Annotation score:

Annotation score:3 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>
A0A6Q8PGB5A0A6Q8PGB5_HUMAN
Alanine--tRNA ligase
AARS1 AARS
925Annotation score:

Annotation score:3 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>
A0A6Q8PFK3A0A6Q8PFK3_HUMAN
Alanine--tRNA ligase
AARS1 AARS
772Annotation score:

Annotation score:3 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>
A0A6Q8PH44A0A6Q8PH44_HUMAN
Alanine--tRNA ligase, cytoplasmic
AARS1 AARS
734Annotation score:

Annotation score:3 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>
A0A6Q8PHJ2A0A6Q8PHJ2_HUMAN
Alanine--tRNA ligase, cytoplasmic
AARS1 AARS
789Annotation score:

Annotation score:3 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>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti82H → Q in BAA06808 (PubMed:7654687).Curated1
Sequence conflicti334Y → C in BAG61157 (PubMed:14702039).Curated1
Sequence conflicti763A → T in BAG61157 (PubMed:14702039).Curated1
Sequence conflicti867S → T in BAD96544 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06708471N → Y in CMT2N. 1 PublicationCorresponds to variant dbSNP:rs387906792EnsemblClinVar.1
Natural variantiVAR_07371981K → T in DEE29; hypomorphic allele; results in only 2-fold reduction in aminoacylation efficiency. 1 PublicationCorresponds to variant dbSNP:rs786205157EnsemblClinVar.1
Natural variantiVAR_028204275G → D. Corresponds to variant dbSNP:rs11537667EnsemblClinVar.1
Natural variantiVAR_063527329R → H in CMT2N; severely reduces enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs267606621EnsemblClinVar.1
Natural variantiVAR_073293608T → M Found in a patient with distal hereditary motor neuropathy; unknown pathological significance. 1 Publication1
Natural variantiVAR_073720751R → G in DEE29; results in 10-fold reduction in aminoacylation efficiency. 1 PublicationCorresponds to variant dbSNP:rs143370729EnsemblClinVar.1
Natural variantiVAR_079703913G → D in DEE29; decreases protein abundance; decreases aminoacylation activity; no effect on the editing activity. 1 PublicationCorresponds to variant dbSNP:rs369774476EnsemblClinVar.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_057201160G → GTYLYSFVR in isoform 2. 1 Publication1
Alternative sequenceiVSP_057202869K → KATQGPGSPPLGLISSL in isoform 2. 1 Publication1

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
D32050 mRNA Translation: BAA06808.1
AK299098 mRNA Translation: BAG61157.1
AK222824 mRNA Translation: BAD96544.1
AC012184 Genomic DNA No translation available.
CH471241 Genomic DNA Translation: EAW51839.1
BC011451 mRNA Translation: AAH11451.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32474.1 [P49588-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
I60107

NCBI Reference Sequences

More...
RefSeqi
NP_001596.2, NM_001605.2 [P49588-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000261772; ENSP00000261772; ENSG00000090861 [P49588-1]
ENST00000674691; ENSP00000502247; ENSG00000090861 [P49588-1]
ENST00000674963; ENSP00000501924; ENSG00000090861 [P49588-1]
ENST00000675643; ENSP00000502797; ENSG00000090861 [P49588-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
16

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:16

UCSC genome browser

More...
UCSCi
uc002eyn.2, human [P49588-1]

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
D32050 mRNA Translation: BAA06808.1
AK299098 mRNA Translation: BAG61157.1
AK222824 mRNA Translation: BAD96544.1
AC012184 Genomic DNA No translation available.
CH471241 Genomic DNA Translation: EAW51839.1
BC011451 mRNA Translation: AAH11451.1
CCDSiCCDS32474.1 [P49588-1]
PIRiI60107
RefSeqiNP_001596.2, NM_001605.2 [P49588-1]

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
4XEMX-ray1.28A1-455[»]
4XEOX-ray1.38A/B1-455[»]
5KNNX-ray2.68A/B/C/D/E/F/G/H4-453[»]
5T5SX-ray2.20A757-965[»]
5T76X-ray2.00A757-965[»]
5V59X-ray2.03A1-455[»]
SMRiP49588
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi106534, 93 interactors
IntActiP49588, 20 interactors
MINTiP49588
STRINGi9606.ENSP00000261772

Chemistry databases

BindingDBiP49588
ChEMBLiCHEMBL3574
DrugBankiDB00160, Alanine

PTM databases

GlyGeniP49588, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP49588
MetOSiteiP49588
PhosphoSitePlusiP49588
SwissPalmiP49588

Genetic variation databases

BioMutaiAARS
DMDMi115502460

Proteomic databases

CPTACiCPTAC-1
CPTAC-2
EPDiP49588
jPOSTiP49588
MassIVEiP49588
MaxQBiP49588
PaxDbiP49588
PeptideAtlasiP49588
PRIDEiP49588
ProteomicsDBi56022 [P49588-1]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...
ABCDi
P49588, 3 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
29958, 221 antibodies

The DNASU plasmid repository

More...
DNASUi
16

Genome annotation databases

EnsembliENST00000261772; ENSP00000261772; ENSG00000090861 [P49588-1]
ENST00000674691; ENSP00000502247; ENSG00000090861 [P49588-1]
ENST00000674963; ENSP00000501924; ENSG00000090861 [P49588-1]
ENST00000675643; ENSP00000502797; ENSG00000090861 [P49588-1]
GeneIDi16
KEGGihsa:16
UCSCiuc002eyn.2, human [P49588-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
16
DisGeNETi16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AARS1
GeneReviewsiAARS1
HGNCiHGNC:20, AARS1
HPAiENSG00000090861, Low tissue specificity
MalaCardsiAARS1
MIMi601065, gene
613287, phenotype
616339, phenotype
neXtProtiNX_P49588
OpenTargetsiENSG00000090861
Orphaneti228174, Autosomal dominant Charcot-Marie-Tooth disease type 2N
442835, Non-specific early-onset epileptic encephalopathy
PharmGKBiPA24367
VEuPathDBiHostDB:ENSG00000090861

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0188, Eukaryota
GeneTreeiENSGT00940000157335
HOGENOMiCLU_004485_5_0_1
InParanoidiP49588
OMAiYHHTMFE
OrthoDBi129373at2759
PhylomeDBiP49588
TreeFamiTF300737

Enzyme and pathway databases

PathwayCommonsiP49588
ReactomeiR-HSA-379716, Cytosolic tRNA aminoacylation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
16, 774 hits in 995 CRISPR screens

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

More...
ChiTaRSi
AARS, human

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

More...
GenomeRNAii
16
PharosiP49588, Tbio

Protein Ontology

More...
PROi
PR:P49588
RNActiP49588, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000090861, Expressed in frontal cortex and 252 other tissues
ExpressionAtlasiP49588, baseline and differential
GenevisibleiP49588, 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
IPR003156, DHHA1_dom
IPR018163, Thr/Ala-tRNA-synth_IIc_edit
IPR009000, Transl_B-barrel_sf
IPR012947, tRNA_SAD
PfamiView protein in Pfam
PF02272, DHHA1, 1 hit
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

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 nameiSYAC_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: P49588
Secondary accession number(s): A6NF14
, B4DR45, Q53GV7, Q96FA0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: October 3, 2006
Last modified: September 29, 2021
This is version 199 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  2. Human chromosome 16
    Human chromosome 16: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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