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LARS Gene

protein-coding   GIFtS: 69
GCID: GC05M145473

Leucyl-TRNA Synthetase

  See LARS-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Leucyl-TRNA Synthetase1 2 3     Cytoplasmic Leucyl-TRNA Synthetase2
EC 6.1.1.43 8     Cytosolic Leucyl-TRNA Synthetase2
LFIS2 5     hr025Cl2
cytoplasmic1     Leucine Translase2
Leucine TRNA Ligase 11     Leucine TRNA Ligase 1, Cytoplasmic2
HSPC1922     Leucine--TRNA Ligase, Cytoplasmic2
LARS12     Leucine-TRNA Ligase2
LEURS2     Leucyl-TRNA Synthetase, Cytoplasmic2
LEUS2     Proliferation-Inducing Gene 442
LRS2     KIAA13523
PIG442     LeuRS3
RNTLS2     EC 6.1.18

External Ids:    HGNC: 65121   Entrez Gene: 515202   Ensembl: ENSG000001337067   OMIM: 1513505   UniProtKB: Q9P2J53   

Export aliases for LARS gene to outside databases

Previous GC identifers: GC05M145468 GC05M146077 GC05M145521 GC05M140639


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Alternatively spliced transcript variants of this gene have been found; however, their full-length nature
is not known. (provided by RefSeq, Jul 2008)

GeneCards Summary for LARS Gene:
LARS (leucyl-tRNA synthetase) is a protein-coding gene. Diseases associated with LARS include conjugate gaze palsy, and patellofemoral pain syndrome. GO annotations related to this gene include aminoacyl-tRNA editing activity and leucine-tRNA ligase activity.

UniProtKB/Swiss-Prot: SYLC_HUMAN, Q9P2J5
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

Gene Wiki entry for LARS (Leucyl-tRNA synthetase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_029289.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the LARS gene promoter:
         c-Fos   AP-1   JunB   Pax-2   FosB   Fra-1   Pax-2a   Pax-2b   JunD   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLARS promoter sequence
   Search Chromatin IP Primers for LARS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LARS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q32   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q32

LARS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LARS gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M145473:  view genomic region     (about GC identifiers)

Start:
145,492,589 bp from pter      End:
145,562,294 bp from pter
Size:
69,706 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SYLC_HUMAN, Q9P2J5 (See protein sequence)
Recommended Name: Leucine--tRNA ligase, cytoplasmic  
Size: 1176 amino acids; 134466 Da
Sequence caution: Sequence=BAA92590.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for LARS:
2WFD (3D)    
Secondary accessions: A7E266 Q9NSE1

Explore the universe of human proteins at neXtProt for LARS: NX_Q9P2J5

Explore proteomics data for LARS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys39, Lys45, Lys155, Lys193, Lys278, Lys341, Lys659, Lys716, Lys719, Lys733,
                                 Lys814, Lys832
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for LARS (Q9P2J5) (see all 13)
     ATLRPET  EFEFWYP  ALKTGFFE  KMSKSTGN 


    See LARS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064502.9  
    ENSEMBL proteins: 
     ENSP00000377954   ENSP00000426005   ENSP00000437791   ENSP00000274562  
    Reactome Protein details: Q9P2J5

    LARS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for LARS
    GenScript Custom Purified and Recombinant Proteins Services for LARS
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LARS

     
    Search eBioscience for Proteins for LARS 

     
    Search antibodies-online for proteins for LARS 

     
    antibodies-online peptides for LARS

    LARS Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    Novus Biologicals LARS Antibodies
    Abcam antibodies for LARS
    Cloud-Clone Corp. Antibodies for LARS
    ThermoFisher Antibodies for LARS
    antibodies-online antibodies for LARS (10 products) 

    LARS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LARS
    Cloud-Clone Corp. CLIAs for LARS
    Search eBioscience for ELISAs for LARS 
    antibodies-online kits for LARS (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    aaRS1: Aminoacyl tRNA synthetases / Class I

    Selected InterPro protein domains (see all 7):
     IPR001412 aa-tRNA-synth_I_CS
     IPR009080 tRNAsynth_1a_anticodon-bd
     IPR014729 Rossmann-like_a/b/a_fold
     IPR013155 V/L/I-tRNA-synth_anticodon-bd
     IPR009008 Val/Leu/Ile-tRNA-synth_edit

    Graphical View of Domain Structure for InterPro Entry Q9P2J5

    ProtoNet protein and cluster: Q9P2J5

    2 Blocks protein domains:
    IPB002300 Aminoacyl-tRNA synthetase
    IPB002308 Cysteinyl-tRNA synthetase signature


    UniProtKB/Swiss-Prot: SYLC_HUMAN, Q9P2J5
    Similarity: Belongs to the class-I aminoacyl-tRNA synthetase family


    Find genes that share domains with LARS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYLC_HUMAN, Q9P2J5
    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
    Catalytic activity: ATP + L-leucine + tRNA(Leu) = AMP + diphosphate + L-leucyl-tRNA(Leu)
    Enzyme regulation: (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

         Genatlas biochemistry entry for LARS:
    leucyl-tRNA synthetase

         Enzyme Numbers (IUBMB): EC 6.1.1.41 2 EC 6.1.12

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0002161aminoacyl-tRNA editing activity IEA--
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004823leucine-tRNA ligase activity TAS--
    GO:0005515protein binding IPI16055448
         
    Find genes that share ontologies with LARS           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for LARS:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Decreased p24 protein expressi 
     Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for LARS

    miRNA
    Products:
        
    miRTarBase miRNAs that target LARS:
    hsa-mir-106b-5p (MIRT044264), hsa-mir-92a-3p (MIRT049782), hsa-mir-21-5p (MIRT030818), hsa-mir-215-5p (MIRT024901), hsa-mir-192-5p (MIRT026370), hsa-mir-155-5p (MIRT020671), hsa-mir-331-3p (MIRT043284), hsa-mir-183-5p (MIRT047117), hsa-mir-92b-3p (MIRT040610)

    Block miRNA regulation of human, mouse, rat LARS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LARS (see all 12):
    hsa-miR-186* hsa-miR-3614-3p hsa-miR-4282 hsa-miR-888* hsa-miR-519e* hsa-miR-515-5p hsa-miR-298 hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidLARS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LARS
    Predesigned siRNA for gene silencing in human, mouse, rat LARS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LARS

    Clone
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    OriGene clones in human, mouse for LARS (see all 6)
    OriGene ORF clones in mouse, rat for LARS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LARS (NM_015340)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LARS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LARS
    Addgene plasmids for LARS 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for LARS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LARS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SYLC_HUMAN, Q9P2J5: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    chloroplast2
    mitochondrion2
    nucleus2
    extracellular1
    golgi apparatus1
    lysosome1
    plasma membrane1
    vacuole1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with LARS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LARS About    
    See pathways by source

    SuperPathContained pathways About
    1tRNA Aminoacylation
    tRNA Aminoacylation0.57
    Aminoacyl-tRNA biosynthesis0.52
    Cytosolic tRNA aminoacylation0.57
    2Gene Expression
    Gene Expression0.40


    Find genes that share SuperPaths with LARS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for LARS
        Cytosolic tRNA aminoacylation


    1 Kegg Pathway  (Kegg details for LARS):
        Aminoacyl-tRNA biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Array including LARS: 
              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for LARS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LARS (Q9P2J51, 2, 3 ENSP000003779544) via UniProtKB, MINT, STRING, and/or I2D (see all 153)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TANKQ928442, 3, ENSP000002590754MINT-48262 I2D: score=2 STRING: ENSP00000259075
    IKBKGQ9Y6K92, 3MINT-48191 I2D: score=2 
    RARSP541361, 3, ENSP000002315724EBI-356077,EBI-355482 I2D: score=1 STRING: ENSP00000231572
    YWHAZP631042, 3, ENSP000003095034MINT-3318628 I2D: score=1 STRING: ENSP00000309503
    ATP10DQ9P2413, ENSP000002738594I2D: score=3 STRING: ENSP00000273859
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006429leucyl-tRNA aminoacylation IEA--
    GO:0010467gene expression TAS--

    Find genes that share ontologies with LARS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LARS (SYLC)

    6 HMDB Compounds for LARS    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Ceramide (d18:1/16:0)(2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol (see all 6)104404-17-3--
    L-Leucine(2S)-2-Amino-4-methylpentanoate (see all 16)61-90-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 DrugBank Compound for LARS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Leucine(2S)-2-Amino-4-methylpentanoic acid (see all 16)61-90-5target--17407263 16955236 16774921 17144674 16956879

    5 Novoseek inferred chemical compound relationships for LARS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trna(leu) 94.1 12 19540202 (4), 19426743 (2), 16169847 (1), 19351898 (1) (see all 5)
    leucine-trna 88 3 19713640 (1), 2076013 (1), 10723090 (1)
    anticodon 75.7 3 15123417 (2), 15161932 (1)
    trna 74.3 28 15161932 (4), 18550527 (3), 12071734 (2), 17378584 (1) (see all 9)
    leucine 59.7 10 15123417 (1), 18550527 (1), 19426743 (1), 10547283 (1) (see all 5)



    Find genes that share compounds with LARS           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LARS gene: 
    NM_020117.9  

    Unigene Cluster for LARS:

    Leucyl-tRNA synthetase
    Hs.432674  [show with all ESTs]
    Unigene Representative Sequence: NM_020117
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394434(uc003lnx.1 uc011dbq.1 uc011dbr.1 uc011dbs.1)
    ENST00000506231(uc003lnw.1) ENST00000510191 ENST00000508709 ENST00000504611
    ENST00000512412 ENST00000514104 ENST00000504323 ENST00000508667 ENST00000507095
    ENST00000511505 ENST00000505223 ENST00000503654 ENST00000506436 ENST00000545646
    ENST00000274562
    miRNA
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    Block miRNA regulation of human, mouse, rat LARS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LARS (see all 12):
    hsa-miR-186* hsa-miR-3614-3p hsa-miR-4282 hsa-miR-888* hsa-miR-519e* hsa-miR-515-5p hsa-miR-298 hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidLARS 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for LARS
    Predesigned siRNA for gene silencing in human, mouse, rat LARS
    Clone
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    OriGene clones in human, mouse for LARS (see all 6)
    OriGene ORF clones in mouse, rat for LARS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LARS (NM_015340)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LARS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LARS
    Addgene plasmids for LARS 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for LARS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LARS
      QuantiTect SYBR Green Assays in human, mouse, rat LARS
      QuantiFast Probe-based Assays in human, mouse, rat LARS

    Additional mRNA sequence: 

    AB037773.1 AF151026.1 AK000277.1 AK001457.1 AK001682.1 AK021413.1 AK023777.1 AK025441.1 
    AK225372.1 AK293750.1 AK295874.1 AK304134.1 AK315178.1 AL390155.1 AY513284.1 AY926480.1 
    BC068041.1 BC105581.1 BC131798.1 BC150213.1 BC151214.1 BC152422.1 D84223.1 U56252.1 

    Selected DOTS entries (see all 25):

    DT.95149473  DT.65285043  DT.95146494  DT.120813264  DT.120813337  DT.95296014  DT.100037988  DT.95146476 
    DT.75197325  DT.91757819  DT.95089730  DT.100655627  DT.120813281  DT.91827412  DT.99933314  DT.120813283 
    DT.120813289  DT.120813334  DT.75127701  DT.91757813  DT.91936592  DT.92343920  DT.91747506  DT.91809897 

    Selected AceView cDNA sequences (see all 494):

    BM833785 BU194835 AW604430 BQ720061 AA377532 BM453389 BM703760 Z40560 
    CB123744 BM461638 AL390155 BM744639 AI890821 AA614086 BG944726 AW673539 
    BU194919 F06989 BX097653 CB160346 BM744625 BM801177 AB037773 CB106163 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LARS (see all 8)    About this scheme

    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:                                                                                                                                                  -         

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


    ECgene alternative splicing isoforms for LARS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LARS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTCATAAT
    LARS Expression
    About this image


    LARS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Endochondral Facial Bones
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Medulla Oblongata
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Limb (Muscoskeletal System)
             Pelvic Girdle
     
     Cartilage (Muscoskeletal System)
             Meckel's Cartilage
    LARS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LARS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.432674
        Pathway & Disease-focused RT2 Profiler PCR Array including LARS: 
              Amino Acid Metabolism I in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for LARS
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LARS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for LARS gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lars1 , 5 leucyl-tRNA synthetase1, 5 85.97(n)1
    90.22(a)1
      18 (22.37 cM)5
    1070451  NM_134137.21  NP_598898.21 
     422023495 
    chicken
    (Gallus gallus)
    Aves LARS1 leucyl-tRNA synthetase 79.11(n)
    87.07(a)
      416347  XM_414663.4  XP_414663.2 
    lizard
    (Anolis carolinensis)
    Reptilia LARS6
    leucyl-tRNA synthetase
    85(a)
    1 ↔ 1
    GL343234.1(641282-709338)
    African clawed frog
    (Xenopus laevis)
    Amphibia BM191686.12   -- 78.97(n)    BM191686.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb36b122 Transcribed sequence with weak similarity to protein more 74.62(n)    57057586 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG331231 CG33123 59.98(n)
    59.64(a)
      326262  NM_175954.2  NP_787968.1 
    worm
    (Caenorhabditis elegans)
    Secernentea lars-11 lars-1 59.57(n)
    57.5(a)
      175538  NM_065436.5  NP_497837.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC60(YPL160W)4
    CDC601
    Cytosolic leucyl tRNA synthetase, ligates leucine to more4
    CDC601
    53.43(n)1
    46.76(a)1
      16(246990-250262)4
    8559431, 4  NP_015165.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G096201 AT1G09620 56.22(n)
    50.05(a)
      837489  NM_100834.5  NP_172433.2 
    rice
    (Oryza sativa)
    Liliopsida Os.245392 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.73(n)    AK068860.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LARS gene
    2 SIMAP similar genes for LARS using alignment to 7 protein entries:     SYLC_HUMAN (see all proteins):
    DKFZp762P233    PIG44

    Find genes that share paralogs with LARS           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LARS (see all 1728)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0704384
    Infantile liver failure syndrome 1 (ILFS1)4--see VAR_0704382 Y C mis40--------
    rs29395331,2
    C,A,H--140711056(+) TACTCC/AGGAGG 1 -- us2k12Minor allele frequency- A:0.25NA CSA 4
    rs49130661,2
    C,F,A--145492092(+) TAAACG/ATCTCA 1 -- ds50017Minor allele frequency- A:0.23NA WA CSA EA 366
    rs1388976831,2
    --145492212(+) AACCTA/GGCTAG 1 -- ds50010--------
    rs49130671,2
    C,F,H--145492230(+) TCAGAG/ACATGC 1 -- ds500116Minor allele frequency- A:0.19NS EA NA 1934
    rs1813091671,2
    --145492366(+) CCTAGG/TGGTCC 1 -- ds50010--------
    rs1419965011,2
    --145492424(+) TAACCA/GCAGTT 1 -- ds50010--------
    rs1855208861,2
    --145492636(+) TTGATA/GGATTG 1 -- ut310--------
    rs585699011,2
    C,F--145492709(+) TGCAAA/CCTCGG 1 -- ut312Minor allele frequency- C:0.33WA CSA 3
    rs1381848881,2
    --145492712(+) AACCTC/TGGTCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for LARS (145492589 - 145562294 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for LARS:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1264154CNV Insertion17803354
    nsv428128CNV Loss18775914
    nsv883006CNV Loss21882294
    dgv6355n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): LARS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LARS
    DNA2.0 Custom Variant and Variant Library Synthesis for LARS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 151350   
    OMIM disorders: 615438  
    UniProtKB/Swiss-Prot: SYLC_HUMAN, Q9P2J5
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 3 diseases for LARS:    
    About MalaCards
    conjugate gaze palsy    patellofemoral pain syndrome    liver failure, infantile, syndromic

    4 diseases from the University of Copenhagen DISEASES database for LARS:
    Gastroesophageal reflux disease     Scrapie     Patellofemoral pain syndrome     Conjugate gaze palsy

    Find genes that share disorders with LARS           About GenesLikeMe

    Genetic Association Database (GAD): LARS
    Human Genome Epidemiology (HuGE) Navigator: LARS (1 document)

    Export disorders for LARS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LARS gene, integrated from 10 sources (see all 83):
    (articles sorted by number of sources associating them with LARS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structures of the human and fungal cytosolic Leucyl-tRNA synthetase editing domains: A structural basis for the rational design of antifungal benzoxaboroles. (PubMed id 19426743)1, 2, 9 Seiradake E.... Cusack S. (J. Mol. Biol. 2009)
    2. Identification of a mutation in LARS as a novel cause of infantile hepatopathy. (PubMed id 22607940)1, 2 Casey J.P....Ennis S. (Mol. Genet. Metab. 2012)
    3. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    4. Assignment of a human genetic locus to chromosome 5 which corrects the heat sensitive lesion associated with reduced leucyl-tRNA synthetase activity in ts025Cl Chinese hamster cells. (PubMed id 6933703)1, 3 Giles R.E....Ruddle F.H. (Somatic Cell Genet. 1980)
    5. Implication of leucyl-tRNA synthetase 1 (LARS1) over-expression in growth and migration of lung cancer cells detected by siRNA targeted knock-down analysis. (PubMed id 18446061)1, 9 Shin S.H....Chung Y.J. (amp 2008)
    6. A paradigm shift for the amino acid editing mechanism of human cytoplasmic leucyl-tRNA synthetase. (PubMed id 19702327)1, 9 Pang Y.L. and Martinis S.A. (Biochemistry 2009)
    7. A single residue in leucyl-tRNA synthetase affecting amino acid specificity and tRNA aminoacylation. (PubMed id 17378584)1, 9 Lue S.W. and Kelley S.O. (Biochemistry 2007)
    8. Horizontal gene transfer in aminoacyl-tRNA synthetases including leucine-specific subtypes. (PubMed id 16955236)7, 9 Dohm J.C....Staub E. (J. Mol. Evol. 2006)
    9. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51520 HGNC: 6512 AceView: LARS Ensembl:ENSG00000133706 euGenes: HUgn51520
    ECgene: LARS Kegg: 51520 H-InvDB: LARS

    (According to HUGE)
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    HUGE: KIAA1352

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LARS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LARS gene:
    Search GeneIP for patents involving LARS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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