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Protein

Probable leucine--tRNA ligase, mitochondrial

Gene

LARS2

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

Annotation score:5 out of 5

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

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

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei642ATPBy similarity1

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

  • aminoacyl-tRNA editing activity Source: InterPro
  • ATP binding Source: UniProtKB-KW
  • leucine-tRNA ligase activity Source: UniProtKB

GO - Biological processi

  • leucyl-tRNA aminoacylation Source: HGNC
  • mitochondrial translation Source: GO_Central
  • tRNA aminoacylation for protein translation Source: Reactome

<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
6.1.1.4 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-379726 Mitochondrial tRNA aminoacylation

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
Q15031

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Probable leucine--tRNA ligase, mitochondrial (EC:6.1.1.4)
Alternative name(s):
Leucyl-tRNA synthetase
Short name:
LeuRS
<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:LARS2
Synonyms:KIAA0028
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000011376.9

Human Gene Nomenclature Database

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HGNCi
HGNC:17095 LARS2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604544 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q15031

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

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

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

Perrault syndrome 4 (PRLTS4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.
See also OMIM:615300
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_070095629T → M in PRLTS4; found in a compound heterozygote also carrying a null mutation; unknown pathological significance; the mutant is functional in a yeast complementation assay. 1 PublicationCorresponds to variant dbSNP:rs398123036EnsemblClinVar.1
Hydrops, lactic acidosis, and sideroblastic anemia (HLASA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease.
See also OMIM:617021
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076997430A → V in HLASA; decreased leucine-tRNA ligase activity. 1 PublicationCorresponds to variant dbSNP:rs879255606EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
23395

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

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GeneReviewsi
LARS2

MalaCards human disease database

More...
MalaCardsi
LARS2
MIMi615300 phenotype
617021 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000011376

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

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Orphaneti
2855 Perrault syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134982982

Chemistry databases

Drug and drug target database

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DrugBanki
DB00149 L-Leucine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LARS2

Domain mapping of disease mutations (DMDM)

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DMDMi
2501029

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000035806? – 903Probable leucine--tRNA ligase, mitochondrial
<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 – ?MitochondrionSequence analysis

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 residuei68N6-acetyllysineBy similarity1
Modified residuei236N6-acetyllysineCombined sources1
Modified residuei711PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q15031

MaxQB - The MaxQuant DataBase

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MaxQBi
Q15031

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

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PaxDbi
Q15031

PeptideAtlas

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PeptideAtlasi
Q15031

PRoteomics IDEntifications database

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PRIDEi
Q15031

ProteomicsDB human proteome resource

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ProteomicsDBi
60380

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q15031

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

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PhosphoSitePlusi
Q15031

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

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

Ubiquitously expressed, but highest expression in tissues with high metabolic rates, such as skeletal muscle, heart, and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000011376 Expressed in 221 organ(s), highest expression level in metanephros

CleanEx database of gene expression profiles

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CleanExi
HS_LARS2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q15031 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q15031 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA035951
HPA045450
HPA066085

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116968, 28 interactors

Protein interaction database and analysis system

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IntActi
Q15031, 5 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000265537

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q15031

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

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SMRi
Q15031

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi92 – 102"HIGH" regionAdd BLAST11
Motifi639 – 643"KMSKS" region5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0435 Eukaryota
COG0495 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000015114

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000200747

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG017877

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q15031

KEGG Orthology (KO)

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KOi
K01869

Identification of Orthologs from Complete Genome Data

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OMAi
ALSMFPY

Database of Orthologous Groups

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OrthoDBi
EOG091G01P6

Database for complete collections of gene phylogenies

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PhylomeDBi
Q15031

TreeFam database of animal gene trees

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TreeFami
TF105662

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.620, 1 hit
3.90.740.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001412 aa-tRNA-synth_I_CS
IPR002300 aa-tRNA-synth_Ia
IPR002302 Leu-tRNA-ligase
IPR013155 M/V/L/I-tRNA-synth_anticd-bd
IPR014729 Rossmann-like_a/b/a_fold
IPR009080 tRNAsynth_Ia_anticodon-bd
IPR009008 Val/Leu/Ile-tRNA-synth_edit

The PANTHER Classification System

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PANTHERi
PTHR43740 PTHR43740, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF08264 Anticodon_1, 1 hit
PF00133 tRNA-synt_1, 3 hits

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00985 TRNASYNTHLEU

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47323 SSF47323, 1 hit
SSF50677 SSF50677, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00396 leuS_bact, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00178 AA_TRNA_LIGASE_I, 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>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q15031-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MASVWQRLGF YASLLKRQLN GGPDVIKWER RVIPGCTRSI YSATGKWTKE
60 70 80 90 100
YTLQTRKDVE KWWHQRIKEQ ASKISEADKS KPKFYVLSMF PYPSGKLHMG
110 120 130 140 150
HVRVYTISDT IARFQKMRGM QVINPMGWDA FGLPAENAAV ERNLHPQSWT
160 170 180 190 200
QSNIKHMRKQ LDRLGLCFSW DREITTCLPD YYKWTQYLFI KLYEAGLAYQ
210 220 230 240 250
KEALVNWDPV DQTVLANEQV DEHGCSWRSG AKVEQKYLRQ WFIKTTAYAK
260 270 280 290 300
AMQDALADLP EWYGIKGMQA HWIGDCVGCH LDFTLKVHGQ ATGEKLTAYT
310 320 330 340 350
ATPEAIYGTS HVAISPSHRL LHGHSSLKEA LRMALVPGKD CLTPVMAVNM
360 370 380 390 400
LTQQEVPVVI LAKADLEGSL DSKIGIPSTS SEDTILAQTL GLAYSEVIET
410 420 430 440 450
LPDGTERLSS SAEFTGMTRQ DAFLALTQKA RGKRVGGDVT SDKLKDWLIS
460 470 480 490 500
RQRYWGTPIP IVHCPVCGPT PVPLEDLPVT LPNIASFTGK GGPPLAMASE
510 520 530 540 550
WVNCSCPRCK GAAKRETDTM DTFVDSAWYY FRYTDPHNPH SPFNTAVADY
560 570 580 590 600
WMPVDLYIGG KEHAVMHLFY ARFFSHFCHD QKMVKHREPF HKLLAQGLIK
610 620 630 640 650
GQTFRLPSGQ YLQREEVDLT GSVPVHAKTK EKLEVTWEKM SKSKHNGVDP
660 670 680 690 700
EEVVEQYGID TIRLYILFAA PPEKDILWDV KTDALPGVLR WQQRLWTLTT
710 720 730 740 750
RFIEARASGK SPQPQLLSNK EKAEARKLWE YKNSVISQVT THFTEDFSLN
760 770 780 790 800
SAISQLMGLS NALSQASQSV ILHSPEFEDA LCALMVMAAP LAPHVTSEIW
810 820 830 840 850
AGLALVPRKL CAHYTWDASV LLQAWPAVDP EFLQQPEVVQ MAVLINNKAC
860 870 880 890 900
GKIPVPQQVA RDQDKVHEFV LQSELGVRLL QGRSIKKSFL SPRTALINFL

VQD
Length:903
Mass (Da):101,976
Last modified:November 1, 1997 - 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:iD9AC143125124F58
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PHM2E9PHM2_HUMAN
Probable leucine--tRNA ligase, mito...
LARS2
860Annotation 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>
C9JYR8C9JYR8_HUMAN
Probable leucine--tRNA ligase, mito...
LARS2
114Annotation 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>
A0A2R8Y581A0A2R8Y581_HUMAN
Probable leucine--tRNA ligase, mito...
LARS2
70Annotation 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>

<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 BAA04877 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076997430A → V in HLASA; decreased leucine-tRNA ligase activity. 1 PublicationCorresponds to variant dbSNP:rs879255606EnsemblClinVar.1
Natural variantiVAR_070094522T → N in PRLTS4 and HLASA; reduced activity; decreased leucine-tRNA ligase activity. 2 PublicationsCorresponds to variant dbSNP:rs199589947EnsemblClinVar.1
Natural variantiVAR_070095629T → M in PRLTS4; found in a compound heterozygote also carrying a null mutation; unknown pathological significance; the mutant is functional in a yeast complementation assay. 1 PublicationCorresponds to variant dbSNP:rs398123036EnsemblClinVar.1
Natural variantiVAR_052638727K → N. Corresponds to variant dbSNP:rs36054230EnsemblClinVar.1
Natural variantiVAR_052639831E → D. Corresponds to variant dbSNP:rs9827689EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
D21851 mRNA Translation: BAA04877.2 Different initiation.
BC025989 mRNA Translation: AAH25989.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2728.1

NCBI Reference Sequences

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RefSeqi
NP_056155.1, NM_015340.3
XP_005265063.1, XM_005265006.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.526975

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000265537; ENSP00000265537; ENSG00000011376
ENST00000415258; ENSP00000408576; ENSG00000011376
ENST00000642274; ENSP00000495707; ENSG00000011376
ENST00000645846; ENSP00000495093; ENSG00000011376

Database of genes from NCBI RefSeq genomes

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GeneIDi
23395

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23395

UCSC genome browser

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UCSCi
uc003cop.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
D21851 mRNA Translation: BAA04877.2 Different initiation.
BC025989 mRNA Translation: AAH25989.1
CCDSiCCDS2728.1
RefSeqiNP_056155.1, NM_015340.3
XP_005265063.1, XM_005265006.1
UniGeneiHs.526975

3D structure databases

ProteinModelPortaliQ15031
SMRiQ15031
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116968, 28 interactors
IntActiQ15031, 5 interactors
STRINGi9606.ENSP00000265537

Chemistry databases

DrugBankiDB00149 L-Leucine

PTM databases

iPTMnetiQ15031
PhosphoSitePlusiQ15031

Polymorphism and mutation databases

BioMutaiLARS2
DMDMi2501029

Proteomic databases

EPDiQ15031
MaxQBiQ15031
PaxDbiQ15031
PeptideAtlasiQ15031
PRIDEiQ15031
ProteomicsDBi60380

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
23395
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265537; ENSP00000265537; ENSG00000011376
ENST00000415258; ENSP00000408576; ENSG00000011376
ENST00000642274; ENSP00000495707; ENSG00000011376
ENST00000645846; ENSP00000495093; ENSG00000011376
GeneIDi23395
KEGGihsa:23395
UCSCiuc003cop.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23395
DisGeNETi23395
EuPathDBiHostDB:ENSG00000011376.9

GeneCards: human genes, protein and diseases

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GeneCardsi
LARS2
GeneReviewsiLARS2
HGNCiHGNC:17095 LARS2
HPAiHPA035951
HPA045450
HPA066085
MalaCardsiLARS2
MIMi604544 gene
615300 phenotype
617021 phenotype
neXtProtiNX_Q15031
OpenTargetsiENSG00000011376
Orphaneti2855 Perrault syndrome
PharmGKBiPA134982982

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

eggNOGiKOG0435 Eukaryota
COG0495 LUCA
GeneTreeiENSGT00390000015114
HOGENOMiHOG000200747
HOVERGENiHBG017877
InParanoidiQ15031
KOiK01869
OMAiALSMFPY
OrthoDBiEOG091G01P6
PhylomeDBiQ15031
TreeFamiTF105662

Enzyme and pathway databases

BRENDAi6.1.1.4 2681
ReactomeiR-HSA-379726 Mitochondrial tRNA aminoacylation
SABIO-RKiQ15031

Miscellaneous databases

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

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ChiTaRSi
LARS2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LARS2

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

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GenomeRNAii
23395

Protein Ontology

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PROi
PR:Q15031

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000011376 Expressed in 221 organ(s), highest expression level in metanephros
CleanExiHS_LARS2
ExpressionAtlasiQ15031 baseline and differential
GenevisibleiQ15031 HS

Family and domain databases

Gene3Di3.40.50.620, 1 hit
3.90.740.10, 1 hit
InterProiView protein in InterPro
IPR001412 aa-tRNA-synth_I_CS
IPR002300 aa-tRNA-synth_Ia
IPR002302 Leu-tRNA-ligase
IPR013155 M/V/L/I-tRNA-synth_anticd-bd
IPR014729 Rossmann-like_a/b/a_fold
IPR009080 tRNAsynth_Ia_anticodon-bd
IPR009008 Val/Leu/Ile-tRNA-synth_edit
PANTHERiPTHR43740 PTHR43740, 1 hit
PfamiView protein in Pfam
PF08264 Anticodon_1, 1 hit
PF00133 tRNA-synt_1, 3 hits
PRINTSiPR00985 TRNASYNTHLEU
SUPFAMiSSF47323 SSF47323, 1 hit
SSF50677 SSF50677, 1 hit
TIGRFAMsiTIGR00396 leuS_bact, 1 hit
PROSITEiView protein in PROSITE
PS00178 AA_TRNA_LIGASE_I, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiSYLM_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: Q15031
<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: November 1, 1997
Last sequence update: November 1, 1997
Last modified: December 5, 2018
This is version 168 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

Complete proteome, Reference proteome

Documents

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