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KARS Gene

protein-coding   GIFtS: 70
GCID: GC16M075661

Lysyl-TRNA Synthetase

(Previous names: deafness, autosomal recessive 89)
(Previous symbol: DFNB89)
  See KARS-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
Lysyl-TRNA Synthetase1 2 3     KARS22
DFNB891 2 5     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   

Export aliases for KARS gene to outside databases

Previous GC identifers: GC16M066591 GC16M076622 GC16M075400 GC16M075442 GC16M075443 GC16M074219 GC16M061415


(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 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. Diseases associated with KARS include kars-related intermediate charcot-marie-tooth neuropathy, and deafness, autosomal recessive 89. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   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 Chromatin IP Primers for KARS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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
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: 

  • Ubiquitination2 at Lys78, Lys127, Lys305, Lys363, Lys407, Lys421, Lys430
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for KARS (Q15046) (see all 17)
     TERFELF  PFITYHN  THNPEFT  FLEIETP 


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

    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

    KARS Human Recombinant Protein Products:

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    Novus Biologicals KARS Proteins
    Novus Biologicals KARS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for KARS
    Cloud-Clone Corp. Proteins for KARS

     
    Search eBioscience for Proteins for KARS 

     
    antibodies-online proteins for KARS (31 products) 

     
    antibodies-online peptides for KARS

    KARS Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of KARS
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    antibodies-online antibodies for KARS (38 products) 

    KARS Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KARS
    Cloud-Clone Corp. CLIAs for KARS
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    antibodies-online kits for KARS (8 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:
    aaRS2: Aminoacyl tRNA synthetases / Class II

    Selected 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

    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


    Find genes that share domains with KARS           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: 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): Selected molecular function terms (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--
         
    Find genes that share ontologies with KARS           About GenesLikeMe


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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target KARS:
    hsa-mir-1226-3p (MIRT036417), hsa-mir-484 (MIRT042065)

    Block miRNA regulation of human, mouse, rat KARS using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate KARS
    SwitchGear 3'UTR luciferase reporter plasmidKARS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KARS

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for KARS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): KARS (NM_005548)
    Sino Biological Human cDNA Clone for KARS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KARS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KARS

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KARS

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12097) for KARS 


    (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
    SYK_HUMAN, Q15046: Isoform Cytoplasmic: Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein.
    Secreted. Note=Secretion is induced by TNF-alpha
    SYK_HUMAN, Q15046: Isoform Mitochondrial: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    mitochondrion5
    nucleus5
    plasma membrane5
    cytoskeleton4
    cytosol4
    endoplasmic reticulum1
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (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--

    Find genes that share ontologies with KARS           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 KARS About    
    See pathways by source

    SuperPathContained pathways About
    1tRNA Aminoacylation
    tRNA Aminoacylation0.57
    Aminoacyl-tRNA biosynthesis0.52
    Cytosolic tRNA aminoacylation0.57
    Mitochondrial tRNA aminoacylation0.50
    2Gene Expression
    Gene Expression0.40
    3Translational Control
    Translational Control


    Find genes that share SuperPaths with KARS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    2 Reactome Pathways for KARS
        Cytosolic tRNA aminoacylation
    Mitochondrial tRNA aminoacylation


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KARS
    Interactions:

        Search GeneGlobe Interaction Network for KARS

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

    Selected Interacting proteins for KARS (Q150461, 2, 3 ENSP000003254484) via UniProtKB, MINT, STRING, and/or I2D (see all 504)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    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 
    PHB2Q996232, 3MINT-8079030 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    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--

    Find genes that share ontologies with KARS           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 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

    Selected 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)



    Find genes that share compounds with KARS           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 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

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    Primer
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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 

    Selected AceView cDNA sequences (see all 756):

    D31890 BU687902 BU733958 CA449000 BM770911 BE048358 CA416084 BI871731 
    BQ006238 AA570143 BQ215534 AW328170 BM927632 AI499989 BQ951556 BM832865 
    BE383722 AA348232 BM476603 BM794146 CB306617 BQ055913 AI150764 AI094363 

    GeneLoc Exon Structure

    Selected 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™, 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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    KARS expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Kidney (Urinary System)
             Metanephros
    KARS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KARS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.3100
        Custom PCR Arrays for KARS
    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KARS

    (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 KARS gene from Selected 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 88.78(n)1
    91.51(a)1
      8 (58.27 cM)5
    853051  NM_001130868.21  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
    63.83(n)1
    67.45(a)1
      8F13
    319041  NM_167196.31  NP_727353.11 
    worm
    (Caenorhabditis elegans)
    Secernentea krs-13
    kars-11
    lysyl-tRNA synthetase3
    kars-11
    60(a)3
    60.66(n)1
    60.54(a)1
      II(7070323-7072321)3
    1741591  NM_063052.41  NP_495453.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KRS1(YDR037W)4
    KRS11
    Lysyl-tRNA synthetase4
    KRS11
    58.85(n)1
    59.27(a)1
      4(525440-527215)4
    8516071, 4  NP_010322.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATKRS-11 ATKRS-1 60.26(n)
    58.53(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)
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    Paralogs for KARS gene

    Find genes that share paralogs with KARS           About GenesLikeMe


    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), 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 KARS (see all 691)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0702334
    Deafness, autosomal recessive, 89 (DFNB89)4--see VAR_0702332 Y H mis40--------
    VAR_0702344
    Deafness, autosomal recessive, 89 (DFNB89)4--see VAR_0702342 D N mis40--------
    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--------

    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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601421   
    OMIM disorders: 613641  613916  
    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
  • Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916]: A form of non-syndromic deafness characterized
    by bilateral, prelingual, moderate to severe hearing loss affecting all frequencies. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 7 diseases for KARS:    
    About MalaCards
    kars-related intermediate charcot-marie-tooth neuropathy    deafness, autosomal recessive 89    charcot-marie-tooth disease, recessive intermediate, b    antisynthetase syndrome
    polymyositis    dermatomyositis    deafness, autosomal recessive 76


    Find genes that share disorders with KARS           About GenesLikeMe

    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)
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    PubMed articles for KARS gene, integrated from 10 sources (see all 196):
    (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. (J. Biol. Chem. 1997)
    2. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. (PubMed id 23768514)1, 2, 3 Santos-Cortez R.L....Leal S.M. (Am. J. Hum. Genet. 2013)
    3. 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. (J. Virol. 2004)
    4. The interaction between HIV-1 Gag and human lysyl-tRNA synthetase during viral assembly. (PubMed id 12756246)1, 2, 9 Javanbakht H.... Kleiman L. (J. Biol. Chem. 2003)
    5. 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. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    6. 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. (Genomics 1996)
    7. 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. (J. Mol. Biol. 1999)
    8. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    9. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. (PubMed id 20920668)1, 2 McLaughlin H.M.... Antonellis A. (Am. J. Hum. Genet. 2010)
    10. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (Eur. J. Hum. Genet. 2010)

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

    (According to HUGE)
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    HUGE: KIAA0070

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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



    (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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