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AARS Gene

protein-coding   GIFtS: 68
GCID: GC16M070286

Alanyl-TRNA Synthetase

  See AARS-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
Alanyl-TRNA Synthetase1 2 3     alaRS2
Renal Carcinoma Antigen NY-REN-422 3     Alanine TRNA Ligase 1, Cytoplasmic2
EC 6.1.1.73 8     Alanine--TRNA Ligase, Cytoplasmic2
CMT2N2 5     Alanyl-TRNA Synthetase, Cytoplasmic2
Alanine TRNA Ligase 11     AlaRS3
cytoplasmic1     EC 6.1.18

External Ids:    HGNC: 201   Entrez Gene: 162   Ensembl: ENSG000000908617   OMIM: 6010655   UniProtKB: P495883   

Export aliases for AARS gene to outside databases

Previous GC identifers: GC16M060988 GC16M070706 GC16M070021 GC16M070062 GC16M068843 GC16M056119


(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 AARS Gene:
The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II
tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the
968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes
that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide
anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the
tRNA, and a second domain which interacts with the rest of the tRNA structure. (provided by RefSeq, Jul 2008)

GeneCards Summary for AARS Gene:
AARS (alanyl-tRNA synthetase) is a protein-coding gene. Diseases associated with AARS include charcot-marie-tooth neuropathy type 2n, and charcot-marie-tooth disease, axonal, type 2n. GO annotations related to this gene include tRNA binding and aminoacyl-tRNA editing activity. An important paralog of this gene is AARS2.

UniProtKB/Swiss-Prot: SYAC_HUMAN, P49588
Function: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by
ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged
tRNA(Ala) via its editing domain (By similarity)




(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  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AARS gene promoter:
         Elk-1   C/EBPbeta   Pbx1a   ATF-2   GATA-2   MZF-1   CRE-BP1   E2F   E2F-1   NF-Y   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAARS promoter sequence
   Search Chromatin IP Primers for AARS

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


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

Entrez Gene cytogenetic band: 16q22   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M070286:  view genomic region     (about GC identifiers)

Start:
70,286,198 bp from pter      End:
70,323,446 bp from pter
Size:
37,249 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SYAC_HUMAN, P49588 (See protein sequence)
Recommended Name: Alanine--tRNA ligase, cytoplasmic  
Size: 968 amino acids; 106810 Da
Cofactor: Binds 1 zinc ion per subunit (Potential)
Subunit: Monomer
Secondary accessions: A6NF14 Q53GV7 Q96FA0

Explore the universe of human proteins at neXtProt for AARS: NX_P49588

Explore proteomics data for AARS at MOPED

Post-translational modifications: 

  • ISGylated1
  • Ubiquitination2 at Lys19, Lys384, Lys677, Lys747, Lys762, Lys820, Lys846, Lys876
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AARS (P49588) (see all 39)
     SFGDYFK  LRRAVRY  QKGSLVA  NYDTDLF 


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

    REFSEQ proteins: NP_001596.2  
    ENSEMBL proteins: 
     ENSP00000261772   ENSP00000455360  
    Reactome Protein details: P49588

    AARS Human Recombinant Protein Products:

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    Novus Biologicals AARS Protein
    Novus Biologicals AARS Lysates
    Sino Biological Recombinant Protein for AARS
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    Cloud-Clone Corp. Proteins for AARS

     
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    Search eBioscience for ELISAs for AARS 


    (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 9):
     IPR002318 Ala-tRNA-lgiase_IIc
     IPR018163 Thr/Ala-tRNA-synth_IIc_edit
     IPR023033 Ala_tRNA_ligase_euk/bac
     IPR018162 Ala-tRNA-ligase_IIc_anticod-bd
     IPR018165 Ala-tRNA-synth_IIc_core

    Graphical View of Domain Structure for InterPro Entry P49588

    ProtoNet protein and cluster: P49588

    2 Blocks protein domains:
    IPB002318 Alanyl-tRNA synthetase signature
    IPB003156 Phosphoesterase


    UniProtKB/Swiss-Prot: SYAC_HUMAN, P49588
    Domain: Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala
    domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala),
    serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating
    deacylation of misacylated tRNAs (By similarity)
    Domain: The C-terminal C-Ala domain (residues 756 to 968), along with tRNA(Ala), serves as a bridge to
    cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated
    tRNAs. The human domain can be used in vitro to replace the corresponding domain in E.coli
    Similarity: Belongs to the class-II aminoacyl-tRNA synthetase family


    Find genes that share domains with AARS           About GenesLikeMe


    (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,
    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: SYAC_HUMAN, P49588
    Function: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by
    ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged
    tRNA(Ala) via its editing domain (By similarity)
    Catalytic activity: ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala)

         Genatlas biochemistry entry for AARS:
    alanyl-tRNA synthetase,target autoantibodies in the immune disease polymyositis/dermatomyositis

         Enzyme Numbers (IUBMB): EC 6.1.1.71 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 IEA--
    GO:0000166nucleotide binding ----
    GO:0002161aminoacyl-tRNA editing activity IEA--
    GO:0003676nucleic acid binding ----
    GO:0004813alanine-tRNA ligase activity IEA--
         
    Find genes that share ontologies with AARS           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aars):
     behavior/neurological  integument  nervous system 

    Find genes that share phenotypes with AARS           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AARS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AARS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AARS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AARS

    miRNA
    Products:
        
    miRTarBase miRNAs that target AARS:
    hsa-mir-766-3p (MIRT039031), hsa-mir-296-3p (MIRT038499), hsa-mir-124-3p (MIRT022529), hsa-mir-615-3p (MIRT039826), hsa-mir-331-3p (MIRT043527), hsa-mir-744-5p (MIRT037527), hsa-mir-484 (MIRT041952), hsa-mir-193b-3p (MIRT041325), hsa-mir-324-5p (MIRT043224)

    Block miRNA regulation of human, mouse, rat AARS using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate AARS:
    hsa-miR-1184 hsa-miR-145 hsa-miR-3652 hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmidAARS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AARS

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: AARS (NM_001605)
    Sino Biological Human cDNA Clone for AARS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AARS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AARS

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AARS


    (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
    SYAC_HUMAN, P49588: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    nucleus2
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with AARS           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 AARS 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 AARS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for AARS
        Cytosolic tRNA aminoacylation


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

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

        Search GeneGlobe Interaction Network for AARS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for AARS (P495882, 3 ENSP000002617724) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AB1P082382, 3MINT-72669 I2D: score=3 
    YWHAZP631042, 3, ENSP000003095034MINT-3318644 I2D: score=1 STRING: ENSP00000309503
    SARS2Q9NP813, ENSP000002214314I2D: score=1 STRING: ENSP00000221431
    EEF1B2P245343, ENSP000002369574I2D: score=3 STRING: ENSP00000236957
    HDLBPQ003413, ENSP000003120424I2D: score=1 STRING: ENSP00000312042
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001942hair follicle development IEA--
    GO:0006400tRNA modification IEA--
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006419alanyl-tRNA aminoacylation IEA--
    GO:0006450regulation of translational fidelity ----

    Find genes that share ontologies with AARS           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 AARS (SYAC)

    5 HMDB Compounds for AARS    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-Alanine(2S)-2-Aminopropanoate (see all 35)56-41-7--
    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 AARS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Alanine(2S)-2-Aminopropanoic acid (see all 15)56-41-7target--8601277 17139284 7742303 17016423 10871402

    7 Novoseek inferred chemical compound relationships for AARS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aminoacyl-trna 94.5 33 8286437 (1), 9358165 (1), 11310981 (1), 12421319 (1) (see all 27)
    trna 87.1 67 17704131 (3), 19549823 (3), 12554667 (2), 18437305 (2) (see all 29)
    anticodon 74.1 5 8286437 (1), 11310981 (1), 18611382 (1), 18322459 (1)
    smpb 70.7 2 11904185 (1), 16381838 (1)
    alanine 33.4 2 19661429 (1), 11737633 (1)
    serine 14 1 19661429 (1)
    atp 0 2 8422978 (1)



    Find genes that share compounds with AARS           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 AARS gene: 
    NM_001605.2  

    Unigene Cluster for AARS:

    Alanyl-tRNA synthetase
    Hs.315137  [show with all ESTs]
    Unigene Representative Sequence: AK222824
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261772(uc010vlu.1 uc002eyn.1) ENST00000569825 ENST00000565361
    ENST00000564359 ENST00000567490 ENST00000569790 ENST00000566969
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate AARS:
    hsa-miR-1184 hsa-miR-145 hsa-miR-3652 hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmidAARS 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: AARS (NM_001605)
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    Primer
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    OriGene qPCR primer pairs and template standards for AARS
    OriGene qSTAR qPCR primer pairs in human, mouse for AARS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AARS
      QuantiTect SYBR Green Assays in human, mouse, rat AARS
      Search QuantiFast Probe-based Assays in human, mouse, rat AARS

    Additional mRNA sequence: 

    AK222824.1 AK225116.1 AK299098.1 AK307782.1 BC011451.1 D32050.1 

    22 DOTS entries:

    DT.448485  DT.95262752  DT.100774719  DT.95262736  DT.95262747  DT.95262749  DT.95262734  DT.100034176 
    DT.100834181  DT.120712453  DT.40115644  DT.40115645  DT.80100249  DT.91960082  DT.92454788  DT.92454789 
    DT.95090763  DT.95262748  DT.99987249  DT.120712433  DT.428242  DT.91904558 

    Selected AceView cDNA sequences (see all 635):

    BM794087 BQ883799 BQ049160 BU541172 BX483779 BQ049711 BQ071130 BU543395 
    AI356029 BI868486 CA443437 BM455338 BQ058121 CD724013 F09721 CF272362 
    BQ064412 BM771662 AW499006 CD515330 BM472171 BQ049279 BQ059483 BP357908 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AARS (see all 6)    About this scheme

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

    ExUns: 21 ^ 22a · 22b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for AARS

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


    AARS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
    AARS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AARS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.315137
        Custom PCR Arrays for AARS
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for AARS
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    Search QuantiFast Probe-based Assays in human, mouse, rat AARS
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AARS

    (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 AARS gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aars1 , 5 alanyl-tRNA synthetase1, 5 88.05(n)1
    95.56(a)1
      8 (57.90 cM)5
    2347341  NM_146217.41  NP_666329.21 
     1110331445 
    chicken
    (Gallus gallus)
    Aves AARS1 alanyl-tRNA synthetase 80.41(n)
    87.72(a)
      415668  NM_001005836.1  NP_001005836.1 
    lizard
    (Anolis carolinensis)
    Reptilia AARS6
    alanyl-tRNA synthetase
    86(a)
    1 ↔ 1
    GL343295.1(1249047-1272619)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.64132 Xenopus laevis transcribed sequence with strong similarity more 78.25(n)    CF520057.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aars1 alanyl-tRNA synthetase 74.16(n)
    81.97(a)
      324940  NM_001044310.2  NP_001037775.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Aats-ala1 , 3 alanyl-tRNA aminoacylation alanine-tRNA
    ligase3
    Alanyl-tRNA synthetase1
    59(a)
    (best of 2)3
    61.12(n)1
    61.51(a)1
      29B33
    341561  NM_078787.41  NP_523511.21 
    worm
    (Caenorhabditis elegans)
    Secernentea ars-23
    aars-21
    aminoacyl-tRNA synthetase3
    aars-21
    57(a)
    (best of 2)3
    57.52(n)1
    58.86(a)1
      I(3983207-3986386)3
    1719851  NM_058880.31  NP_491281.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALA1(YOR335C)4
    ALA11
    Cytoplasmic and mitochondrial alanyl-tRNA synthetase, more4
    ALA11
    53.84(n)1
    52.03(a)1
      15(949109-946233)4
    8545131, 4  NP_014980.31  NP_014980.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALATS1 ALATS 53.08(n)
    50.75(a)
      841442  NM_001198257.1  NP_001185186.1 
    rice
    (Oryza sativa)
    Liliopsida Os.117222 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.62(n)    AK066368.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AARS gene
    AARS22  
    1 SIMAP similar gene for AARS using alignment to 2 protein entries:     SYAC_HUMAN (see all proteins):
    AARS2

    Find genes that share paralogs with AARS           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for AARS
    PGOHUM00000246081


    (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 AARS (see all 1007)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0635274
    Charcot-Marie-Tooth disease 2N (CMT2N)4--see VAR_0635272 R H mis40--------
    VAR_0670844
    Charcot-Marie-Tooth disease 2N (CMT2N)4--see VAR_0670842 N Y mis40--------
    rs2004067321,2
    C--70292801(+) AACAGA/TGNNNN 1 -- int10--------
    rs113856861,2
    C--70295584(+) TTTTTT/-TTTTT 1 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs1115835841,2
    C,F--70300885(+) CAGGCG/ACATGC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs604453751,2
    C--70304777(+) TGGGCCTGGGC/-
            
    ATGGT
    1 -- cds11Minor allele frequency- -:0.50NA 2
    rs771542981,2
    C,F--70305095(+) CAAAAA/CCAAAA 1 -- int12Minor allele frequency- C:0.32WA 120
    rs802288531,2
    C,F--70305117(+) GCAAGC/ATTCAA 1 -- int12Minor allele frequency- A:0.32WA 120
    rs596123511,2
    C,F--70307753(+) AGAGCA/GGGACT 1 -- int11Minor allele frequency- G:0.00WA 2
    rs1117832201,2
    C,F--70307879(+) ACTATG/TATTAT 1 -- int12Minor allele frequency- T:0.04CSA WA 120

    HapMap Linkage Disequilibrium report for AARS (70286198 - 70323446 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for AARS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv906870CNV Loss21882294
    nsv906868CNV Loss21882294
    nsv906869CNV Loss21882294
    dgv2903n71CNV Gain21882294
    esv33745CNV Gain+Loss17666407
    nsv833271CNV Gain+Loss17160897
    nsv428328CNV Gain+Loss18775914
    dgv895e1CNV Complex17122850
    dgv896e1CNV Complex17122850
    nsv7285OTHER Inversion18451855

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

    (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: 601065   
    OMIM disorders: 613287  
    UniProtKB/Swiss-Prot: SYAC_HUMAN, P49588
  • Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]: An axonal 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. Charcot-Marie-Tooth disease is classified in two
    main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating
    neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies
    (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of
    obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle
    weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 5 diseases for AARS:    
    About MalaCards
    charcot-marie-tooth neuropathy type 2n    charcot-marie-tooth disease, axonal, type 2n    mitochondrial cardiomyopathy    charcot-marie-tooth neuropathy type 2
    charcot-marie-tooth disease type 2

    2 diseases from the University of Copenhagen DISEASES database for AARS:
    Myositis     Charcot-Marie-Tooth disease

    Find genes that share disorders with AARS           About GenesLikeMe

    2 Novoseek inferred disease relationships for AARS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myositis 59.3 1 16085368 (1)
    myopathies idiopathic inflammatory 54.2 1 16085368 (1)


    Export disorders for AARS 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 AARS gene, integrated from 10 sources (see all 128):
    (articles sorted by number of sources associating them with AARS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. (PubMed id 20045102)1, 2, 9 Latour P.... Rousson R. (Am. J. Hum. Genet. 2010)
    2. Human alanyl-tRNA synthetase: conservation in evolution of catalytic core and microhelix recognition. (PubMed id 7654687)1, 2, 9 Shiba K....Schimmel P. (Biochemistry 1995)
    3. Localization of two human autoantigen genes by PCR screening and in situ hybridization--glycyl-tRNA synthetase locates to 7p15 and alanyl-tRNA synthetase locates to 16q22. (PubMed id 8595897)1, 3, 9 Nichols R.C....Liu P. (Genomics 1995)
    4. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). (PubMed id 22009580)1, 2 McLaughlin H.M.... Antonellis A. (Hum. Mutat. 2012)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (Int. J. Cancer 1999)
    7. The C-Ala domain brings together editing and aminoacylation functions on one tRNA. (PubMed id 19661429)2, 9 Guo M.... Schimmel P. (Science 2009)
    8. Wide cross-species aminoacyl-tRNA synthetase replacement in vivo: yeast cytoplasmic alanine enzyme replaced by human polymyositis serum antigen. (PubMed id 7761427)1, 9 Ripmaster T.L....Schimmel P. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    9. Minor groove recognition of the critical acceptor helix base pair by an appended module of a class II tRNA synthetase. (PubMed id 7742303)7, 9 Buechter D.D. and Schimmel P. (Biochemistry 1995)
    10. A Proteomics Strategy for the Identification of FAT10-Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (J. Proteome Res. 2014)

    (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: 16 HGNC: 20 AceView: AARS Ensembl:ENSG00000090861 euGenes: HUgn16
    ECgene: AARS Kegg: 16 H-InvDB: AARS

    (According to HUGE)
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      --

    (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 AARS 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 AARS gene:
    Search GeneIP for patents involving AARS

    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, LSBio, eBioscience, 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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