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

AARS Gene

protein-coding   GIFtS: 67
GCID: GC16M070286

Alanyl-TRNA Synthetase

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

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

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, and among its related super-pathways are Cytosolic tRNA aminoacylation and Generic Transcription Pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AARS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cytoplasm (By similarity)
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:

  • UniProtKB: ISGylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P49588

  • 4/39 DME Specific Peptides for AARS (P49588) (see all 39)
     SFGDYFK  LRRAVRY  QKGSLVA  NYDTDLF 

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

    AARS Protein Expression
    REFSEQ proteins: NP_001596.2  
    ENSEMBL proteins: 
     ENSP00000261772   ENSP00000455360  
    Reactome Protein details: P49588
    Human Recombinant Protein Products for AARS: 
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    Novus Biologicals AARS Lysates
    Sino Biological Recombinant Protein for AARS
    Sino Biological Cell Lysate for AARS 
    ProSpec Recombinant Protein for AARS
    Cloud-Clone Corp. Proteins for AARS 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS7654687
    GO:0005829cytosol TAS--

    AARS for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for AARS


    (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

    5/8 InterPro protein domains (see all 8):
     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


    AARS 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: 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): 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 IEA--
    GO:0000166nucleotide binding ----
    GO:0002161aminoacyl-tRNA editing activity IEA--
    GO:0003676nucleic acid binding ----
    GO:0004813alanine-tRNA ligase activity IEA--
         
    AARS for ontologies           About GeneDecksing


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

    AARS for phenotypes           About GeneDecksing

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

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AARS 
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    SwitchGear 3'UTR luciferase reporter plasmidAARS 3' UTR sequence
    Inhib. RNA
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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 AARS About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for AARS
        Cytosolic tRNA aminoacylation
    tRNA Aminoacylation
    Gene Expression


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


    AARS for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/105 Interacting proteins for AARS (P495882, 3 ENSP000002617724) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AB1P082382, 3MINT-72669 I2D: score=3 
    YWHAZP631042, 3, ENSP000003095034MINT-3318644 I2D: score=1 STRING: ENSP00000309503
    OXSMQ9NWU13, ENSP000002807014I2D: score=1 STRING: ENSP00000280701
    SARS2Q9NP813, ENSP000002214314I2D: score=1 STRING: ENSP00000221431
    EEF1B2P245343, ENSP000002369574I2D: score=3 STRING: ENSP00000236957
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (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 ----

    AARS 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

    AARS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about AARS / SYAC

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

    miRNA
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    hsa-miR-1184 hsa-miR-145 hsa-miR-3652 hsa-miR-1205
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    Inhib. RNA
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    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 

    24/635 AceView cDNA sequences (see all 635):

    BQ063064 BM556480 BX420209 BU541885 BQ058054 BQ063703 T09429 CD723537 
    BM766110 BU177751 BQ686878 BU500380 BP358178 BU509769 BQ319659 BP359492 
    CD723271 BE892655 H47191 BU782759 BQ057450 BQ682930 BQ065726 BU188389 

    GeneLoc Exon Structure

    5/6 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™, 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

    AARS expression in normal human tissues (normalized intensities)      AARS embryonic expression: see
    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 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/midbrain   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   
     
     Bone (Gastrulation Derivatives)
             skeleton/cranium   

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

    SOURCE GeneReport for Unigene cluster: Hs.315137
        SABiosciences Custom PCR Arrays for AARS
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    In Situ
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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 AARS gene from 10/28 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_146217.31  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
    Uncharacterized protein
    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
    61.16(n)1
    61.4(a)1
      29B33
    341561  NM_078787.31  NP_523511.21 
    worm
    (Caenorhabditis elegans)
    Secernentea ars-23
    aars-21
    aminoacyl-tRNA synthetase3
    Protein AARS-21
    57(a)
    (best of 2)3
    57.73(n)1
    59.03(a)1
      I(3983207-3986386)3
    1719851  NM_058880.21  NP_491281.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALA1(YOR335C)4
    ALA11
    Cytoplasmic and mitochondrial alanyl-tRNA synthetase, more4
    Ala1p1
    53.97(n)1
    52.21(a)1
      15(949109-946233)4
    8545131, 4  NP_014980.31  NP_014980.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALATS1 Alanyl-tRNA synthetase 53.19(n)
    50.86(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)
    About This Section
    Paralogs for AARS gene
    AARS22  
    1 SIMAP similar gene for AARS using alignment to 2 protein entries:     SYAC_HUMAN (see all proteins):
    AARS2

    AARS for paralogs           About GeneDecksing


    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) 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

    10/1007 SNPs in AARS are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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 regeneration 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

  • 20/28 diseases for AARS (see all 28):    About MalaCards
    charcot-marie-tooth neuropathy type 2n    charcot-marie-tooth disease, axonal, type 2n    lip cancer    charcot-marie-tooth disease type 2
    appendicitis    mitochondrial cardiomyopathy    charcot-marie-tooth neuropathy type 2    axonal neuropathy
    charcot-marie-tooth disease    tooth disease    distal hereditary motor neuropathy    idiopathic pulmonary fibrosis
    myositis    charcot-marie-tooth neuropathy    type 1 diabetes mellitus    polymyositis
    interstitial lung disease    pulmonary fibrosis    dermatomyositis    type 1 diabetes

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

    AARS for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for AARS gene, integrated from 9 sources (see all 127):
    (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. (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. (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. (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. (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. (2004)
    6. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (1999)
    7. The C-Ala domain brings together editing and aminoacylation functions on one tRNA. (PubMed id 19661429)2, 9 Guo M.... Schimmel P. (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. (1995)
    9. Minor groove recognition of the critical acceptor hel ix base pair by an appended module of a class II tRNA synthetase. (PubMed id 7742303)7, 9 Buechter D.D. and Schimmel P. (1995)
    10. A Proteomics Strategy for the Identification of FAT10- Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (2013)

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

    (According to HUGE)
    About This Section
      --

    (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 AARS 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 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



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