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Aliases for LARS Gene

Aliases for LARS Gene

  • Leucyl-TRNA Synthetase 2 3 4 5
  • EC 6.1.1.4 4 63
  • LEURS 3 4
  • Cytoplasmic Leucyl-TRNA Synthetase 3
  • Leucine TRNA Ligase 1, Cytoplasmic 3
  • Cytosolic Leucyl-TRNA Synthetase 3
  • Proliferation-Inducing Gene 44 3
  • Leucine TRNA Ligase 1 2
  • Leucine Translase 3
  • Cytoplasmic 2
  • KIAA1352 4
  • EC 6.1.1 63
  • HSPC192 3
  • Hr025Cl 3
  • ILFS1 3
  • LARS1 3
  • PIG44 3
  • RNTLS 3
  • LEUS 3
  • LFIS 3
  • LRS 3

External Ids for LARS Gene

Previous GeneCards Identifiers for LARS Gene

  • GC05M145468
  • GC05M146077
  • GC05M145521
  • GC05M145473
  • GC05M140639

Summaries for LARS Gene

Entrez Gene Summary for LARS 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 LARS Gene

LARS (Leucyl-TRNA Synthetase) is a Protein Coding gene. Diseases associated with LARS include infantile liver failure syndrome 1 and acute infantile liver failure-multisystemic involvement syndrome. Among its related pathways are Gene Expression and Metabolism. GO annotations related to this gene include nucleotide binding and aminoacyl-tRNA editing activity.

UniProtKB/Swiss-Prot for LARS 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 LARS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LARS Gene

Genomics for LARS Gene

Regulatory Elements for LARS Gene

Promoters for LARS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LARS on UCSC Golden Path with GeneCards custom track

Genomic Location for LARS Gene

Chromosome:
5
Start:
146,113,026 bp from pter
End:
146,182,787 bp from pter
Size:
69,762 bases
Orientation:
Minus strand

Genomic View for LARS Gene

Genes around LARS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LARS Gene

Proteins for LARS Gene

  • Protein details for LARS 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 LARS 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 LARS Gene

    Alternative splice isoforms for LARS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LARS Gene

Proteomics data for LARS Gene at MOPED

Post-translational modifications for LARS Gene

  • Ubiquitination at Lys 39, Lys 45, Lys 155, Lys 193, Lys 278, Lys 341, Lys 659, Lys 716, Lys 719, Lys 733, Lys 814, and Lys 832
  • Modification sites at PhosphoSitePlus

Other Protein References for LARS Gene

Domains & Families for LARS Gene

Gene Families for LARS Gene

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 LARS: view

Function for LARS Gene

Molecular function for LARS Gene

GENATLAS Biochemistry:
leucyl-tRNA synthetase
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-leucine + tRNA(Leu) = AMP + diphosphate + L-leucyl-tRNA(Leu).
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.
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.

Enzyme Numbers (IUBMB) for LARS Gene

Gene Ontology (GO) - Molecular Function for LARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002161 aminoacyl-tRNA editing activity IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0005515 protein binding IPI 16055448
genes like me logo Genes that share ontologies with LARS: view
genes like me logo Genes that share phenotypes with LARS: view

Human Phenotype Ontology for LARS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for LARS Gene

Localization for LARS Gene

Subcellular locations from UniProtKB/Swiss-Prot for LARS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LARS Gene COMPARTMENTS Subcellular localization image for LARS gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 2
plasma membrane 2
chloroplast 1
cytoskeleton 1
extracellular 1
golgi apparatus 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for LARS Gene

Pathways & Interactions for LARS Gene

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

Pathways by source for LARS Gene

Gene Ontology (GO) - Biological Process for LARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006429 leucyl-tRNA aminoacylation IBA --
genes like me logo Genes that share ontologies with LARS: view

No data available for SIGNOR curated interactions for LARS Gene

Drugs & Compounds for LARS Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Leucine Approved Nutra Target 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

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

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
  • Cer
  • Ceramide
  • N-Acylsphingosine
104404-17-3
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with LARS: view

Transcripts for LARS Gene

Unigene Clusters for LARS Gene

Leucyl-tRNA synthetase:
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^
SP1: - - -
SP2:
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8: -

ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6: - -
SP7:
SP8:

Relevant External Links for LARS Gene

GeneLoc Exon Structure for
LARS
ECgene alternative splicing isoforms for
LARS

Expression for LARS Gene

mRNA expression in normal human tissues for LARS Gene

Protein differential expression in normal tissues from HIPED for LARS Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.4) and Lymph node (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LARS Gene



SOURCE GeneReport for Unigene cluster for LARS Gene Hs.432674

genes like me logo Genes that share expression patterns with LARS: view

Protein tissue co-expression partners for LARS Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LARS Gene

Orthologs for LARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LARS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LARS 35
  • 91.01 (n)
  • 92.18 (a)
LARS 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LARS 35
  • 92.38 (n)
  • 94.98 (a)
LARS 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lars 35
  • 85.97 (n)
  • 90.22 (a)
Lars 16
Lars 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LARS 35
  • 99.35 (n)
  • 99.57 (a)
LARS 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lars 35
  • 86.9 (n)
  • 90.14 (a)
oppossum
(Monodelphis domestica)
Mammalia LARS 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LARS 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves LARS 35
  • 79.11 (n)
  • 87.07 (a)
LARS 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LARS 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lars 35
  • 75.88 (n)
  • 83.67 (a)
Str.5585 35
zebrafish
(Danio rerio)
Actinopterygii larsb 35
  • 71.02 (n)
  • 79.63 (a)
wufb36b12 35
larsa 36
  • 79 (a)
OneToMany
larsa 36
  • 76 (a)
OneToMany
larsb 36
  • 80 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008297 35
  • 58.48 (n)
  • 59.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG33123 35
  • 59.98 (n)
  • 59.64 (a)
CG33123 36
  • 59 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lars-1 35
  • 59.57 (n)
  • 57.5 (a)
lars-1 36
  • 56 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL088W 35
  • 54.2 (n)
  • 48.86 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D06105g 35
  • 53.83 (n)
  • 48.4 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC60 35
  • 53.43 (n)
  • 46.76 (a)
CDC60 36
  • 45 (a)
OneToOne
CDC60 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G09620 35
  • 56.22 (n)
  • 50.05 (a)
soybean
(Glycine max)
eudicotyledons Gma.978 35
barley
(Hordeum vulgare)
Liliopsida Hv.6307 35
rice
(Oryza sativa)
Liliopsida Os.24539 35
Os09g0503400 35
  • 57.78 (n)
  • 52.63 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.7517 35
corn
(Zea mays)
Liliopsida Zm.12595 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11019 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09463 35
  • 51.34 (n)
  • 47.5 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lrs1 35
  • 56.88 (n)
  • 51.86 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9718 36
  • 63 (a)
OneToOne
Species with no ortholog for LARS:
  • 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 LARS Gene

ENSEMBL:
Gene Tree for LARS (if available)
TreeFam:
Gene Tree for LARS (if available)

Paralogs for LARS Gene

(2) SIMAP similar genes for LARS Gene using alignment to 7 proteins:

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

No data available for Paralogs for LARS Gene

Variants for LARS Gene

Sequence variations from dbSNP and Humsavar for LARS Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10988 - 146,120,433(+) CTTGC(C/T)TGATT reference, missense
rs112954500 - 146,171,959(+) AACAT(C/T)TTCCT reference, missense
VAR_070438 Infantile liver failure syndrome 1 (ILFS1)
rs16742 -- 146,113,337(+) GGATT(-/AA)ATAGG downstream-variant-500B, utr-variant-3-prime
rs1054020 -- 146,145,585(+) GAAAA(C/T)TGACG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv883006 CNV Loss 21882294
nsv428128 CNV Loss 18775914
dgv6355n71 CNV Loss 21882294
esv1264154 CNV Insertion 17803354

Variation tolerance for LARS 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)

Relevant External Links for LARS Gene

HapMap Linkage Disequilibrium report
LARS
Human Gene Mutation Database (HGMD)
LARS

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

Disorders for LARS Gene

MalaCards: The human disease database

(11) MalaCards diseases for LARS Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search LARS 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.

Relevant External Links for LARS

Genetic Association Database (GAD)
LARS
Human Genome Epidemiology (HuGE) Navigator
LARS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LARS
genes like me logo Genes that share disorders with LARS: view

No data available for Genatlas for LARS Gene

Publications for LARS 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. (J. Mol. Biol. 2009) 3 4 23 67
  2. A paradigm shift for the amino acid editing mechanism of human cytoplasmic leucyl-tRNA synthetase. (PMID: 19702327) Pang Y.L. … Martinis S.A. (Biochemistry 2009) 3 23
  3. 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 S.H. … Chung Y.J. (Exp. Mol. Med. 2008) 3 23
  4. A single residue in leucyl-tRNA synthetase affecting amino acid specificity and tRNA aminoacylation. (PMID: 17378584) Lue S.W. … Kelley S.O. (Biochemistry 2007) 3 23
  5. Horizontal gene transfer in aminoacyl-tRNA synthetases including leucine-specific subtypes. (PMID: 16955236) Dohm J.C. … Staub E. (J. Mol. Evol. 2006) 23 25

Products for LARS Gene

Sources for LARS Gene

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