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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KARS Gene

protein-coding   GIFtS: 70
GCID: GC16M075661

Lysyl-TRNA Synthetase

(Previous names: deafness, autosomal recessive 89)
(Previous symbol: DFNB89)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Lysyl-TRNA Synthetase1 2 3     KARS22
DFNB891 2     KRS2
Lysine TRNA Ligase1 2     lysRS2
EC 6.1.1.63 8     Lysine--TRNA Ligase2
CMTRIB2 5     KIAA00703
Deafness, Autosomal Recessive 891     LysRS3
KARS12     EC 6.1.18

External Ids:    HGNC: 62151   Entrez Gene: 37352   Ensembl: ENSG000000654277   OMIM: 6014215   UniProtKB: Q150463   
ORGUL members:         
NONCODE14:n342492      

Export aliases for KARS gene to outside databases

Previous GC identifers: GC16M066591 GC16M076622 GC16M075400 GC16M075442 GC16M075443 GC16M074219 GC16M061415


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KARS Gene:
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA
synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It
has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or
dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for KARS Gene: 
KARS (lysyl-tRNA synthetase) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with KARS include antisynthetase syndrome, and kars-related intermediate charcot-marie-tooth neuropathy, and among its related super-pathways are Cytosolic tRNA aminoacylation and Generic Transcription Pathway. GO annotations related to this gene include tRNA binding and lysine-tRNA ligase activity.

UniProtKB/Swiss-Prot: SYK_HUMAN, Q15046
Function: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 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. When
secreted, acts as a signaling molecule that induces immune response through the activation of
monocyte/macrophages. Catalyzes the synthesis of diadenosine oligophosphate (Ap4A), a signaling molecule involved
in the activation of MITF transcriptional activity. Interacts with HIV-1 virus GAG protein, facilitating the
selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation

Gene Wiki entry for KARS 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KARS gene promoter:
         Egr-3   AML1a   Pax-5   Pax-2   Lmo2   Pax-2a   HNF-4alpha1   YY1   Egr-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKARS promoter sequence
   Search SABiosciences Chromatin IP Primers for KARS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KARS


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

Entrez Gene cytogenetic band: 16q23.1   Ensembl cytogenetic band:  16q23.1   HGNC cytogenetic band: 16q23.1

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M075661:  view genomic region     (about GC identifiers)

Start:
75,661,622 bp from pter      End:
75,682,541 bp from pter
Size:
20,920 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SYK_HUMAN, Q15046 (See protein sequence)
Recommended Name: Lysine--tRNA ligase  
Size: 597 amino acids; 68048 Da
Subunit: Homodimer; also part of a multisubunit complex that groups AIMP1, AIMP2, EEF1A1 and tRNA ligases for Arg,
Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro. Interacts with AIMP2 (via N-terminus) and MITF. Interacts directly
with HIV-1 virus GAG protein
Subcellular location: Isoform Cytoplasmic: Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein.
Secreted. Note=Secretion is induced by TNF-alpha
Subcellular location: Isoform Mitochondrial: Mitochondrion
Miscellaneous: Shares a bidirectional promoter with TERF2IP/RAP1 (PubMed:14659874)
Sequence caution: Sequence=BAA06688.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for KARS:
3BJU (3D)        4DPG (3D)    
Secondary accessions: A8MSK1 D3DUK4 O14946 Q96J25 Q9HB23
Alternative splicing: 2 isoforms:  Q15046-1   Q15046-2   (Mitochondrial precursor. Contains a mitochondrial transit peptide at positions 1-16. Ref.2 (AAG30114) sequence is in conflict in position: 48:R->G)

Explore the universe of human proteins at neXtProt for KARS: NX_Q15046

Explore proteomics data for KARS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15046

  • 4/17 DME Specific Peptides for KARS (Q15046) (see all 17)
     TERFELF  PFITYHN  THNPEFT  FLEIETP 

    KARS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KARS Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001123561.1  NP_005539.1  

    ENSEMBL proteins: 
     ENSP00000325448   ENSP00000303043   ENSP00000454512   ENSP00000455818   ENSP00000456185  
     ENSP00000456786   ENSP00000455488   ENSP00000462057   ENSP00000458028  
    Reactome Protein details: Q15046
    Human Recombinant Protein Products for KARS: 
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    Novus Biologicals KARS Lysate
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    ProSpec Recombinant Protein for KARS
    Cloud-Clone Corp. Proteins for KARS 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA10952987
    GO:0005759mitochondrial matrix TAS--

    KARS for ontologies           About GeneDecksing



    KARS Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    aaRS2: Aminoacyl tRNA synthetases / Class II

    5/7 InterPro protein domains (see all 7):
     IPR006195 aa-tRNA-synth_II
     IPR004364 aa-tRNA-synt_II
     IPR002313 Lys-tRNA-ligase_II
     IPR012340 NA-bd_OB-fold
     IPR004365 NA-bd_OB_tRNA-helicase

    Graphical View of Domain Structure for InterPro Entry Q15046

    ProtoNet protein and cluster: Q15046

    3 Blocks protein domains:
    IPB002313 Lysyl-tRNA synthetase signature
    IPB004364 tRNA synthetase
    IPB004365 OB-fold nucleic acid binding domain


    UniProtKB/Swiss-Prot: SYK_HUMAN, Q15046
    Domain: The N-terminal domain (1-65) of the cytoplasmic isoform is a functional tRNA-binding domain (By
    similarity), is required for nuclear localization, is involved in the interaction with DARS, but has a repulsive
    role in the binding to EEF1A1. A central domain (208-259) is involved in homodimerization and is required for
    interaction with HIV-1 GAG and incorporation into virions. The C-terminal domain (452-597) is not required for
    interaction with AIMP2
    Similarity: Belongs to the class-II aminoacyl-tRNA synthetase family


    KARS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYK_HUMAN, Q15046
    Function: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 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. When
    secreted, acts as a signaling molecule that induces immune response through the activation of
    monocyte/macrophages. Catalyzes the synthesis of diadenosine oligophosphate (Ap4A), a signaling molecule involved
    in the activation of MITF transcriptional activity. Interacts with HIV-1 virus GAG protein, facilitating the
    selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation
    Catalytic activity: ATP + L-lysine + tRNA(Lys) = AMP + diphosphate + L-lysyl-tRNA(Lys)
    Enzyme regulation: Up-regulated by DARS and EEF1A1, but not by AIMP2

         Genatlas biochemistry entry for KARS:
    lysyl-tRNA synthetase,target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis

         Enzyme Numbers (IUBMB): EC 6.1.1.61 2 EC 6.1.12

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding NAS10952987
    GO:0000166nucleotide binding ----
    GO:0003676nucleic acid binding ----
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004824lysine-tRNA ligase activity TAS--
         
    KARS for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for KARS:
     Decreased viability  Decreased viability of wild-ty  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KARS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KARS

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KARS 

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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KARS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1tRNA Aminoacylation
    tRNA Aminoacylation0.57
    Aminoacyl-tRNA biosynthesis0.54
    Cytosolic tRNA aminoacylation0.57
    Mitochondrial tRNA aminoacylation0.50
    2Generic Transcription Pathway
    Gene Expression0.47
    3Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for KARS
        Translational Control


    4        Reactome Pathways for KARS
        Cytosolic tRNA aminoacylation
    tRNA Aminoacylation
    Gene Expression
    Mitochondrial tRNA aminoacylation


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


    KARS for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KARS

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

    5/427 Interacting proteins for KARS (Q150462, 3 ENSP000003254484) via UniProtKB, MINT, STRING, and/or I2D (see all 427)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AIMP2Q131552, 3, ENSP000002230294MINT-66634 MINT-8258901 I2D: score=7 STRING: ENSP00000223029
    PAFAH1B1P430342, 3, ENSP000003803784MINT-65542 I2D: score=5 STRING: ENSP00000380378
    EEF1GP266412, 3MINT-65541 I2D: score=5 
    PIK3R3Q925692, 3MINT-8266238 I2D: score=2 
    DLDP096222, 3MINT-8079030 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006430lysyl-tRNA aminoacylation IDA10952987
    GO:0008033tRNA processing NAS10952987
    GO:0010467gene expression TAS--
    GO:0015966diadenosine tetraphosphate biosynthetic process IEA--

    KARS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KARS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for KARS (SYK)

    5 HMDB Compounds for KARS    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--
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    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 KARS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Lysine(S)-2,6-diaminohexanoic acid (see all 6)56-87-1target--17158446 17560369 16953616 17425721

    10/24 Novoseek inferred chemical compound relationships for KARS gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trna(lys) 88 49 15183344 (5), 10387054 (4), 14722314 (4), 12941890 (3) (see all 5)
    aminoacyl-trna 85.1 9 12438642 (1), 12766171 (1), 18839981 (1), 19755181 (1) (see all 6)
    kainate 83.7 40 20472138 (2), 18400404 (2), 15549132 (2), 18955488 (2) (see all 31)
    trna 68 50 11706011 (6), 12766171 (5), 12417586 (4), 9278442 (3) (see all 11)
    atpa 65.8 1 18793656 (1)
    trna(asp) 65.4 2 12766171 (1)
    anticodon 65.2 9 10572184 (2), 11884398 (2), 12766171 (2), 17661445 (1) (see all 5)
    glutamate 58.1 30 10985352 (3), 18070252 (2), 16723532 (2), 15872094 (2) (see all 22)
    lysine 36.9 4 14747465 (1), 9278442 (1), 17158446 (1)
    nmda 32.3 5 18070252 (1), 20472138 (1), 18789344 (1), 11773314 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about KARS / SYK

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KARS gene (2 alternative transcripts): 
    NM_001130089.1  NM_005548.2  

    Unigene Cluster for KARS:

    Lysyl-tRNA synthetase
    Hs.3100  [show with all ESTs]
    Unigene Representative Sequence: NM_001130089
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000319410(uc002fer.3) ENST00000302445(uc002feq.3) ENST00000568378
    ENST00000564578 ENST00000569298 ENST00000562875 ENST00000566560(uc010cgz.3 uc010cha.1)
    ENST00000566249 ENST00000566772 ENST00000568682 ENST00000570215 ENST00000565738

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF285758.1 AK126584.1 AK309168.1 AK315687.1 BC004132.2 BC013246.1 D31890.1 D32053.1 

    20 DOTS entries:

    DT.119914  DT.100664559  DT.100697984  DT.100664561  DT.100664562  DT.95167502  DT.100865562  DT.120666383 
    DT.97861075  DT.100876632  DT.120666394  DT.120666406  DT.100641124  DT.92453824  DT.100664555  DT.100664566 
    DT.120666478  DT.120666497  DT.92453826  DT.92453829 

    24/756 AceView cDNA sequences (see all 756):

    BM796004 AI934833 BM770911 BU178160 BM794146 AW328170 BM451994 BM764865 
    BU155131 BX461432 BM766885 AL546307 BM564262 BM741445 AA187872 BI859970 
    CA422876 BU172471 BM465651 BM475905 AI867301 BF971382 BU681465 BQ953992 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for KARS (see all 16)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^
    SP1:                                -           -                                                                                                               
    SP2:                                -     -     -                                                                                                               
    SP3:                                -           -                 -     -                                                                                       
    SP4:                                -     -                                                                                                                     
    SP5:                                                                                                                                                            

    ExUns: 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c · 17d
    SP1:                          -                                 
    SP2:                          -                                 
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for KARS

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KARS expression in normal human tissues (normalized intensities)      KARS embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACCCGAAG
    KARS Expression
    About this image


    KARS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/50 selected tissues (see all 50) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Cerebral Cortex
             brain/midbrain   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             heart/atrium   

    See KARS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KARS

    SOURCE GeneReport for Unigene cluster: Hs.3100
        SABiosciences Custom PCR Arrays for KARS
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KARS gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kars1 , 5 lysyl-tRNA synthetase1, 5 89.16(n)1
    92.31(a)1
      8 (58.27 cM)5
    853051  NM_001130868.11  NP_001124340.11 
     1119934405 
    chicken
    (Gallus gallus)
    Aves KARS1 lysyl-tRNA synthetase 77.17(n)
    84.59(a)
      415885  NM_001030583.1  NP_001025754.1 
    lizard
    (Anolis carolinensis)
    Reptilia KARS6
    lysyl-tRNA synthetase
    74(a)
    1 ↔ 1
    AAWZ02038681(584-9956)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046578.12   -- 75.13(n)    BC046578.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.282092 Transcribed sequence with moderate similarity to protein more 79.2(n)    57053864 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG121413
    Aats-lys1
    lysyl-tRNA aminoacylation lysine-tRNA
    ligase3
    Lysyl-tRNA synthetase1
    72(a)3
    64.32(n)1
    68.01(a)1
      8F13
    319041  NM_001201642.11  NP_001188571.11 
    worm
    (Caenorhabditis elegans)
    Secernentea krs-13
    kars-11
    lysyl-tRNA synthetase3
    Protein KARS-11
    60(a)3
    60.31(n)1
    60.25(a)1
      II(7070323-7072321)3
    1741591  NM_063052.31  NP_495453.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KRS1(YDR037W)4
    KRS11
    Lysyl-tRNA synthetase4
    Krs1p1
    58.62(n)1
    59.03(a)1
      4(525440-527215)4
    8516071, 4  NP_010322.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATKRS-11 Lysyl-tRNA synthetase 60.04(n)
    58.26(a)
      820343  NM_112003.3  NP_187777.1 
    rice
    (Oryza sativa)
    Liliopsida AK099302.12   -- 74.94(n)    AK099302.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KARS gene

    KARS for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for KARS
    PGOHUM00000248573 PGOHUM00000248686 PGOHUM00000248914


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/689 SNPs in KARS are shown (see all 689)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0649114
    Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB)4--see VAR_0649112 L H mis40--------
    VAR_0649124
    Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB)4--see VAR_0649122 I M mis40--------
    rs725007651,2
    C--61425355(+) GTCTC-/A/AA  
            
    AAAAA
    2 -- int10--------
    rs58179571,2
    C--75662280(+) GGTAG-/GAAAAA 2 -- int10--------
    rs569512121,2
    C--75663188(+) CCAGC-/A/CAAGCC 2 -- int11CSA 2
    rs1122252781,2
    F--75664678(+) CAGGTG/ACCCGC 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs32146351,2
    C--75665228(+) AGTGTG/-GGAAA 2 -- int12Minor allele frequency- -:0.00NA 4
    rs570607911,2
    C--75670530(+) CTGCA-/TTTTTT 2 -- int10--------
    rs113862291,2
    C--75671799(+) AAAAA-/AAAAAA 2 -- int1 trp31Minor allele frequency- A:0.50NA 2
    rs575510671,2
    C--75672116(+) GTTCC-/TTTTTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for KARS (75661622 - 75682541 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KARS: --

    Human Gene Mutation Database (HGMD): KARS
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KARS
    DNA2.0 Custom Variant and Variant Library Synthesis for KARS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601421   
    OMIM disorders: 613641  
    UniProtKB/Swiss-Prot: SYK_HUMAN, Q15046
  • Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) [MIM:613641]: A form of
    Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness
    and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive
    intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features
    intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction
    velocities ranging from 25 to 45 m/sec. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 19 diseases for KARS:    About MalaCards
    antisynthetase syndrome    kars-related intermediate charcot-marie-tooth neuropathy    polymyositis    intermediate charcot-marie-tooth neuropathy
    dermatomyositis    appendicitis    charcot-marie-tooth neuropathy    microphthalmia
    charcot-marie-tooth disease    temporal lobe epilepsy    tooth disease    peripheral neuropathy
    myositis    neuropathy    sarcoidosis    pneumonia
    neuroblastoma    gastric cancer    neuronitis


    KARS for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for KARS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microphthalmia 45.5 5 18644867 (1), 16199869 (1)
    immunodeficiency 43.7 9 15220430 (2), 12417586 (1), 12941890 (1), 15888436 (1) (see all 6)

    Genetic Association Database (GAD): KARS
    Human Genome Epidemiology (HuGE) Navigator: KARS (4 documents)

    Export disorders for KARS 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)
    About This Section

    PubMed articles for KARS gene, integrated from 9 sources (see all 189):
    (articles sorted by number of sources associating them with KARS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human lysyl-tRNA synthetase accepts nucleotide 73 variants and rescues Escherichia coli double-defective mutant. (PubMed id 9278442)1, 2, 3, 9 Shiba K....Schimmel P. (1997)
    2. Cellular distribution of Lysyl-tRNA synthetase and its interaction with Gag during human immunodeficiency virus type 1 assembly. (PubMed id 15220430)1, 2, 9 Halwani R....Kleiman L. (2004)
    3. The interaction between HIV-1 Gag and human lysyl-tRNA synthetase during viral assembly. (PubMed id 12756246)1, 2, 9 Javanbakht H.... Kleiman L. (2003)
    4. Crystal structure of tetrameric form of human lysyl-tRNA synthetase: Implications for multisynthetase complex formation. (PubMed id 18272479)1, 2, 9 Guo M.... Yang X.-L. (2008)
    5. Assignment of two human autoantigen genes-isoleucyl-tRNA synthetase locates to 9q21 and lysyl-tRNA synthetase locates to 16q23-q24. (PubMed id 8812440)1, 3, 9 Nichols R.C....Liu P. (1996)
    6. Macromolecular assemblage of aminoacyl-tRNA synthetases: identification of protein-protein interactions and characterization of a core protein. (PubMed id 9878398)1, 2, 9 Quevillon S.... Mirande M. (1999)
    7. Mutations in KARS, encoding lysyl-tRNA synthetase, cau se autosomal-recessive nonsyndromic hearing impairment DFNB89. (PubMed id 23768514)1, 3 Santos-Cortez R.L....Leal S.M. (2013)
    8. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    9. Compound heterozygosity for loss-of-function lysyl-tR NA synthetase mutations in a patient with peripheral neuropathy. (PubMed id 20920668)1, 2 McLaughlin H.M....Antonellis A. (2010)
    10. Fine mapping and association studies of a high-densit y lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian su bjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 3735 HGNC: 6215 AceView: KARS Ensembl:ENSG00000065427 euGenes: HUgn3735
    ECgene: KARS Kegg: 3735 H-InvDB: KARS

    (According to HUGE)
    About This Section
    HUGE: KIAA0070

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KARS Pharmacogenomics, SNPs, Pathways

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

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



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