This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in af... See more...

Aliases for LARS1 Gene

Aliases for LARS1 Gene

  • Leucyl-TRNA Synthetase 1 2 3
  • Leucyl-TRNA Synthetase 2 4 5
  • Leucine TRNA Ligase 1, Cytoplasmic 2 3
  • Leucine--TRNA Ligase, Cytoplasmic 3 4
  • EC 6.1.1.4 4 54
  • LARS 3 5
  • Cytoplasmic Leucyl-TRNA Synthetase 3
  • Cytosolic Leucyl-TRNA Synthetase 3
  • Proliferation-Inducing Gene 44 3
  • Leucine Translase 3
  • KIAA1352 4
  • EC 6.1.1 54
  • HSPC192 3
  • Hr025Cl 3
  • ILFS1 3
  • LEURS 3
  • PIG44 3
  • RNTLS 3
  • LeuRS 4
  • LEUS 3
  • LFIS 3
  • LRS 3

External Ids for LARS1 Gene

Previous HGNC Symbols for LARS1 Gene

  • LARS

Summaries for LARS1 Gene

Entrez Gene Summary for LARS1 Gene

  • This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]

GeneCards Summary for LARS1 Gene

LARS1 (Leucyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with LARS1 include Infantile Liver Failure Syndrome 1. Among its related pathways are tRNA Aminoacylation and PI3K / Akt Signaling. An important paralog of this gene is LARS2.

UniProtKB/Swiss-Prot Summary for LARS1 Gene

  • Catalyzes the specific attachment of an amino acid to its cognate tRNA in a two step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Exhibits a post-transfer editing activity to hydrolyze mischarged tRNAs.

Gene Wiki entry for LARS1 Gene

Additional gene information for LARS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LARS1 Gene

Genomics for LARS1 Gene

GeneHancer (GH) Regulatory Elements for LARS1 Gene

Promoters and enhancers for LARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LARS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LARS1 Gene

Genomic Locations for LARS1 Gene
chr5:146,113,026-146,182,787
(GRCh38/hg38)
Size:
69,762 bases
Orientation:
Minus strand
chr5:145,492,589-145,562,294
(GRCh37/hg19)
Size:
69,706 bases
Orientation:
Minus strand

Genomic View for LARS1 Gene

Genes around LARS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LARS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LARS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LARS1 Gene

Proteins for LARS1 Gene

  • Protein details for LARS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2J5-SYLC_HUMAN
    Recommended name:
    Leucine--tRNA ligase, cytoplasmic
    Protein Accession:
    Q9P2J5
    Secondary Accessions:
    • A2RRR4
    • A7E266
    • B4DJ10
    • Q2TU79
    • Q9NSE1

    Protein attributes for LARS1 Gene

    Size:
    1176 amino acids
    Molecular mass:
    134466 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92590.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LARS1 Gene

    Alternative splice isoforms for LARS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LARS1 Gene

Selected DME Specific Peptides for LARS1 Gene

Q9P2J5:
  • ATLRPET
  • EFEFWYP
  • KGTGVVTSVPSDSPDD
  • PYMNGRLHLGHTFS
  • KFSADGMRL
  • HCTGMPIKACADKLK
  • DECVVALCDQWYL
  • ADAGDTVEDANF
  • KMSKSTGN
  • ALKTGFFE
  • KDGQPCMDHDR
  • SLSDSTIY
  • MVLPFEPVP

Post-translational modifications for LARS1 Gene

  • Ubiquitination at Lys716, Lys719, Lys39, Lys733, Lys45, Lys155, Lys814, Lys193, Lys832, Lys278, Lys341, and Lys659
  • Modification sites at PhosphoSitePlus

Other Protein References for LARS1 Gene

Domains & Families for LARS1 Gene

Gene Families for LARS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for LARS1 Gene

GenScript: Design optimal peptide antigens:
  • LARS protein (A2RRR4_HUMAN)
  • cDNA FLJ58157, highly similar to Leucyl-tRNA synthetase, cytoplasmic (EC 6.1.1.4) (B4DER1_HUMAN)
  • cDNA FLJ58533, highly similar to Leucyl-tRNA synthetase, cytoplasmic (EC 6.1.1.4) (B4DJ10_HUMAN)
  • LARS protein (Q0VGM8_HUMAN)
  • LARS protein (Q6NVI4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P2J5

UniProtKB/Swiss-Prot:

SYLC_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with LARS1: view

Function for LARS1 Gene

Molecular function for LARS1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the specific attachment of an amino acid to its cognate tRNA in a two step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Exhibits a post-transfer editing activity to hydrolyze mischarged tRNAs.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-leucine + tRNA(Leu) = AMP + diphosphate + L-leucyl-tRNA(Leu); Xref=Rhea:RHEA:11688, Rhea:RHEA-COMP:9613, Rhea:RHEA-COMP:9622, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57427, ChEBI:CHEBI:78442, ChEBI:CHEBI:78494, ChEBI:CHEBI:456215; EC=6.1.1.4;.
UniProtKB/Swiss-Prot EnzymeRegulation:
5-fluoro-1,3-dihydro-1-hydroxy-1,2-benzoxaborole inhibits LARS by forming a covalent adduct with the 3' adenosine of tRNA(Leu) at the editing site, thus locking the enzyme in an inactive conformation.

Enzyme Numbers (IUBMB) for LARS1 Gene

Phenotypes From GWAS Catalog for LARS1 Gene

Gene Ontology (GO) - Molecular Function for LARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002161 aminoacyl-tRNA editing activity IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004819 glutamine-tRNA ligase activity IDA 26869582
GO:0004823 leucine-tRNA ligase activity TAS --
GO:0005096 GTPase activator activity IMP 22424946
genes like me logo Genes that share ontologies with LARS1: view
genes like me logo Genes that share phenotypes with LARS1: view

Human Phenotype Ontology for LARS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LARS1 Gene

MGI Knock Outs for LARS1:
  • Lars Lars<tm1b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for LARS1

CRISPR Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for LARS1 Gene

Localization for LARS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LARS1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LARS1 gene
Compartment Confidence
nucleus 5
cytosol 5
endoplasmic reticulum 4
lysosome 3
mitochondrion 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 22424946
GO:0005764 lysosome IMP 22424946
GO:0005783 endoplasmic reticulum IDA 22424946
GO:0005829 cytosol TAS --
GO:0012505 endomembrane system IDA 22424946
genes like me logo Genes that share ontologies with LARS1: view

Pathways & Interactions for LARS1 Gene

genes like me logo Genes that share pathways with LARS1: view

Pathways by source for LARS1 Gene

1 Cell Signaling Technology pathway for LARS1 Gene

Gene Ontology (GO) - Biological Process for LARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006425 glutaminyl-tRNA aminoacylation IDA 26869582
GO:0006429 leucyl-tRNA aminoacylation IBA 21873635
GO:0006622 protein targeting to lysosome IMP 22424946
genes like me logo Genes that share ontologies with LARS1: view

No data available for SIGNOR curated interactions for LARS1 Gene

Drugs & Compounds for LARS1 Gene

(5) Drugs for LARS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Leucine Approved Nutra Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(6) Additional Compounds for LARS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ceramide (d18:1/16:0)
  • (2S,3R,4E)-2-acylamino-1,3-Octadec-4-enediol
  • (2S,3R,4E)-2-Acylaminooctadec-4-ene-1,3-diol
  • C16 Cer
  • C16 Ceramide
  • C16-0(Palmitoyl)ceramide
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with LARS1: view

Transcripts for LARS1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LARS1 Gene

No ASD Table

Relevant External Links for LARS1 Gene

GeneLoc Exon Structure for
LARS1
ECgene alternative splicing isoforms for
LARS1

Expression for LARS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LARS1 Gene:

LARS1

SOURCE GeneReport for Unigene cluster for LARS1 Gene:

Hs.432674

Evidence on tissue expression from TISSUES for LARS1 Gene

  • Nervous system(5)
  • Liver(4.7)
  • Heart(3.2)
  • Intestine(3.1)
  • Skin(2.8)
  • Blood(2.7)
  • Eye(2.7)
  • Lung(2.7)
  • Muscle(2.5)
  • Lymph node(2.3)
  • Kidney(2.2)
  • Spleen(2.2)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LARS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • skull
Abdomen:
  • liver
General:
  • blood
  • coagulation system
  • red blood cell
genes like me logo Genes that share expression patterns with LARS1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for LARS1 Gene

Orthologs for LARS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LARS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LARS 33 32
  • 99.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LARS 33 32
  • 92.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LARS 33 32
  • 91.01 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lars 32
  • 86.9 (n)
mouse
(Mus musculus)
Mammalia Lars 17 33 32
  • 85.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LARS 33
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LARS 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves LARS 33 32
  • 79.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LARS 33
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lars 32
  • 75.88 (n)
Str.5585 32
zebrafish
(Danio rerio)
Actinopterygii larsa 33 33
  • 79 (a)
OneToMany
larsb 33 32
  • 71.02 (n)
OneToMany
wufb36b12 32
fruit fly
(Drosophila melanogaster)
Insecta CG33123 33 32
  • 59.98 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008297 32
  • 58.48 (n)
worm
(Caenorhabditis elegans)
Secernentea lars-1 33 32
  • 59.57 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL088W 32
  • 54.2 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D06105g 32
  • 53.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC60 35 33 32
  • 53.43 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G09620 32
  • 56.22 (n)
soybean
(Glycine max)
eudicotyledons Gma.978 32
rice
(Oryza sativa)
Liliopsida Os09g0503400 32
  • 57.78 (n)
Os.24539 32
wheat
(Triticum aestivum)
Liliopsida Ta.7517 32
barley
(Hordeum vulgare)
Liliopsida Hv.6307 32
corn
(Zea mays)
Liliopsida Zm.12595 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9718 33
  • 63 (a)
OneToOne
Cin.11019 32
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lrs1 32
  • 56.88 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09463 32
  • 51.34 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11019 32
Species where no ortholog for LARS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for LARS1 Gene

ENSEMBL:
Gene Tree for LARS1 (if available)
TreeFam:
Gene Tree for LARS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LARS1: view image

Paralogs for LARS1 Gene

Paralogs for LARS1 Gene

genes like me logo Genes that share paralogs with LARS1: view

Variants for LARS1 Gene

Sequence variations from dbSNP and Humsavar for LARS1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs10988 benign, not specified, - 146,120,433(-) C/T coding_sequence_variant, missense_variant
rs112954500 benign, not specified, - 146,171,959(-) T/C coding_sequence_variant, intron_variant, missense_variant
rs150429680 uncertain-significance, not specified, Infantile liver failure syndrome 1 146,151,995(-) A/C/T coding_sequence_variant, missense_variant
rs1561495759 uncertain-significance, Infantile liver failure syndrome 1 146,171,962(-) C/A coding_sequence_variant, intron_variant, missense_variant
rs201861847 pathogenic, Infantile liver failure syndrome 1, Infantile liver failure syndrome 1 (ILFS1) [MIM:615438] 146,153,928(-) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for LARS1 Gene

Variant ID Type Subtype PubMed ID
esv1264154 CNV insertion 17803354
nsv1137533 CNV deletion 24896259
nsv1153535 CNV duplication 26484159
nsv428128 CNV loss 18775914
nsv969002 CNV duplication 23825009

Variation tolerance for LARS1 Gene

Residual Variation Intolerance Score: 24.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.85; 93.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LARS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LARS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LARS1 Gene

Disorders for LARS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LARS1 Gene - From: OMIM, ClinVar, GTR, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
infantile liver failure syndrome 1
  • ilfs1
- elite association - COSMIC cancer census association via MalaCards
Search LARS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYLC_HUMAN
  • Infantile liver failure syndrome 1 (ILFS1) [MIM:615438]: A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. {ECO:0000269 PubMed:22607940}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LARS1

genes like me logo Genes that share disorders with LARS1: view

No data available for Genatlas for LARS1 Gene

Publications for LARS1 Gene

  1. Crystal structures of the human and fungal cytosolic Leucyl-tRNA synthetase editing domains: A structural basis for the rational design of antifungal benzoxaboroles. (PMID: 19426743) Seiradake E … Cusack S (Journal of molecular biology 2009) 3 4 23 56
  2. Identification of a mutation in LARS as a novel cause of infantile hepatopathy. (PMID: 22607940) Casey JP … Ennis S (Molecular genetics and metabolism 2012) 3 4 56
  3. A paradigm shift for the amino acid editing mechanism of human cytoplasmic leucyl-tRNA synthetase. (PMID: 19702327) Pang YL … Martinis SA (Biochemistry 2009) 3 23 56
  4. Implication of leucyl-tRNA synthetase 1 (LARS1) over-expression in growth and migration of lung cancer cells detected by siRNA targeted knock-down analysis. (PMID: 18446061) Shin SH … Chung YJ (Experimental & molecular medicine 2008) 3 23 56
  5. A single residue in leucyl-tRNA synthetase affecting amino acid specificity and tRNA aminoacylation. (PMID: 17378584) Lue SW … Kelley SO (Biochemistry 2007) 3 23 56

Products for LARS1 Gene

Sources for LARS1 Gene