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HARS Gene

protein-coding   GIFtS: 71
GCID: GC05M140034

Histidyl-TRNA Synthetase

Microbiology & Infectious Diseases Congress
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(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
Histidyl-TRNA Synthetase1 2 3     cytoplasmic1
HRS2 3     Histidine TRNA Ligase 11
HisRS2 3     Histidine Translase2
EC 6.1.1.213 8     Histidine--TRNA Ligase, Cytoplasmic2
USH3B2 5     

External Ids:    HGNC: 48161   Entrez Gene: 30352   Ensembl: ENSG000001704457   OMIM: 1428105   UniProtKB: P120813   

Export aliases for HARS gene to outside databases

Previous GC identifers: GC05M139869 GC05M140636 GC05M140036 GC05M140081 GC05M135198


(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 HARS Gene:
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein
encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases.
The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of
histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where
the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in
the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Apr 2012)

GeneCards Summary for HARS Gene:
HARS (histidyl-tRNA synthetase) is a protein-coding gene. Diseases associated with HARS include facial hemiatrophy, and liver angiosarcoma. GO annotations related to this gene include histidine-tRNA ligase activity. An important paralog of this gene is HARS2.

Gene Wiki entry for HARS 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:
NC_000005.10  NT_029289.12  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HARS gene promoter:
         SRF   AREB6   PPAR-gamma1   AML1a   SRF (504 AA)   ARP-1   Nkx2-5   PPAR-gamma2   NF-E2 p45   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHARS promoter sequence
   Search Chromatin IP Primers for HARS

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


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

Entrez Gene cytogenetic band: 5q31.3   Ensembl cytogenetic band:  5q31.3   HGNC cytogenetic band: 5q31.3

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M140034:  view genomic region     (about GC identifiers)

Start:
140,052,758 bp from pter      End:
140,071,609 bp from pter
Size:
18,852 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SYHC_HUMAN, P12081 (See protein sequence)
Recommended Name: Histidine--tRNA ligase, cytoplasmic  
Size: 509 amino acids; 57411 Da
Sequence caution: Sequence=CAA28956.1; Type=Frameshift; Positions=Several;
4 PDB 3D structures from and Proteopedia for HARS:
1X59 (3D)        2LW7 (3D)        4G84 (3D)        4G85 (3D)    
Secondary accessions: B4DHQ1 B4DY73 D6REN6 J3KNE5
Alternative splicing: 4 isoforms:  P12081-1   P12081-2   P12081-3   P12081-4   

Explore the universe of human proteins at neXtProt for HARS: NX_P12081

Explore proteomics data for HARS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys75, Lys230, Lys293, Lys376
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HARS (P12081) (see all 18)
     LKTPKGT  GLDYYTG  CFKRHGA  GGRYDGL 


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

    REFSEQ proteins (7 alternative transcripts): 
    NP_001244969.1  NP_001244970.1  NP_001244971.1  NP_001276021.1  NP_001276022.1  NP_001276023.1  NP_002100.2  

    ENSEMBL proteins: 
     ENSP00000425634   ENSP00000387893   ENSP00000393244   ENSP00000430063   ENSP00000304668  
     ENSP00000411511   ENSP00000411085   ENSP00000425889   ENSP00000421576   ENSP00000413605  
    Reactome Protein details: P12081

    HARS Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for HARS

    HARS Antibody Products:

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    HARS Assay Products:

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    (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):
     IPR002314 aa-tRNA-synt_IIb_cons-dom
     IPR000738 WHEP-TRS
     IPR006195 aa-tRNA-synth_II
     IPR015807 His-tRNA-ligase
     IPR004154 Anticodon-bd

    Graphical View of Domain Structure for InterPro Entry P12081

    ProtoNet protein and cluster: P12081

    2 Blocks protein domains:
    IPB000738 WHEP-TRS domain
    IPB004154 Anticodon binding domain


    UniProtKB/Swiss-Prot: SYHC_HUMAN, P12081
    Similarity: Belongs to the class-II aminoacyl-tRNA synthetase family
    Similarity: Contains 1 WHEP-TRS domain


    HARS 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYHC_HUMAN, P12081
    Catalytic activity: ATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His)

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

         Enzyme Number (IUBMB): EC 6.1.1.211 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004821histidine-tRNA ligase activity NAS1549469
    GO:0005524ATP binding IEA--
         
    HARS for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HARS:
     Cell cycle / mitosis defect 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HARS
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HARS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HARS

    miRNA
    Products:
        
    miRTarBase miRNAs that target HARS:
    hsa-let-7b-5p (MIRT051984), hsa-mir-183-5p (MIRT047138), hsa-mir-93-5p (MIRT028054), hsa-mir-130b-3p (MIRT020182), hsa-mir-342-3p (MIRT043717), hsa-mir-19b-3p (MIRT031140), hsa-mir-149-5p (MIRT045675), hsa-mir-16-5p (MIRT001460)

    Block miRNA regulation of human, mouse, rat HARS using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate HARS:
    hsa-miR-19b hsa-miR-129-5p hsa-miR-518a-5p hsa-miR-26b* hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidHARS 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for HARS
    Predesigned siRNA for gene silencing in human, mouse, rat HARS

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: HARS (NM_002109)
    Sino Biological Human cDNA Clone for HARS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HARS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HARS

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


    (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
    SYHC_HUMAN, P12081: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    HARS for ontologies           About GeneDecksing


    (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 HARS 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for HARS
        Cytosolic tRNA aminoacylation


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


    HARS for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for HARS

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

    Selected Interacting proteins for HARS (P120812, 3 ENSP000003046684) via UniProtKB, MINT, STRING, and/or I2D (see all 178)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPL5P467772, 3, ENSP000003593454MINT-6542674 I2D: score=2 STRING: ENSP00000359345
    UBCP0CG482, 3, ENSP000003448184MINT-6542674 I2D: score=2 STRING: ENSP00000344818
    TARSP266392, 3, ENSP000002651124MINT-6542674 I2D: score=2 STRING: ENSP00000265112
    THG1LQ9NWX63, ENSP000002311984I2D: score=1 STRING: ENSP00000231198
    EEF1B2P245343, ENSP000002369574I2D: score=4 STRING: ENSP00000236957
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation NAS7755634
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006427histidyl-tRNA aminoacylation IEA--
    GO:0010467gene expression TAS--

    HARS for ontologies           About GeneDecksing



    (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 HARS (SYHC)

    5 HMDB Compounds for HARS    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-Histidine(S)-1H-Imidazole-4-alanine (see all 20)71-00-1--
    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 HARS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Histidine(S)-4-(2-Amino-2-carboxyethyl)imidazole (see all 7)71-00-1target--17150756 16741232



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HARS gene (7 alternative transcripts): 
    NM_001258040.2  NM_001258041.2  NM_001258042.2  NM_001289092.1  NM_001289093.1  NM_001289094.1  NM_002109.5  

    Unigene Cluster for HARS:

    Histidyl-tRNA synthetase
    Hs.528050  [show with all ESTs]
    Unigene Representative Sequence: NM_002109
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504156(uc003lgv.3 uc011czm.2 uc003lgw.3 uc011czn.2 uc011czo.2 uc011czq.2)
    ENST00000457527 ENST00000431330(uc011czp.2) ENST00000504366(uc003lgu.3)
    ENST00000307633 ENST00000438307 ENST00000509087 ENST00000415192 ENST00000506579
    ENST00000507746 ENST00000512396 ENST00000518126 ENST00000502888 ENST00000448240

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

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate HARS:
    hsa-miR-19b hsa-miR-129-5p hsa-miR-518a-5p hsa-miR-26b* hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidHARS 3' UTR sequence
    Inhib. RNA
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    OriGene clones in human, mouse for HARS (see all 7)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HARS (NM_002109)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HARS
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HARS
      QuantiTect SYBR Green Assays in human, mouse, rat HARS
      QuantiFast Probe-based Assays in human, mouse, rat HARS

    Additional mRNA sequence: 

    AK000498.1 AK094406.1 AK225776.1 AK293154.1 AK293531.1 AK295219.1 AK302295.1 AK303778.1 
    AK307669.1 AY995220.1 BC011807.2 BC080514.1 

    Selected DOTS entries (see all 25):

    DT.452906  DT.97864368  DT.100813105  DT.95171401  DT.100783763  DT.91764618  DT.435033  DT.101966816 
    DT.100030876  DT.120887671  DT.120887591  DT.120887651  DT.120887685  DT.100030880  DT.120887619  DT.120887647 
    DT.120887550  DT.91719427  DT.95171393  DT.100769780  DT.100814557  DT.115301  DT.95120098  DT.95171385 

    Selected AceView cDNA sequences (see all 386):

    Z11518 BQ935980 BM756043 BE281436 BU169107 CR608398 BQ229641 BU508336 
    CA429502 BE464395 BF968696 BQ961534 AK055917 BP345004 CB148142 BM904833 
    BU687381 BU174033 BM557615 BE311945 NM_002109 BM843887 BQ680295 BX402935 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HARS (see all 12)    About this scheme

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

    ExUns: 11b · 11c ^ 12 ^ 13a · 13b
    SP1:  -                           
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for HARS

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


    HARS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Lung (Respiratory System)
             Trachea
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    HARS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HARS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.528050

    UniProtKB/Swiss-Prot: SYHC_HUMAN, P12081
    Tissue specificity: Brain, heart, liver and kidney

        Custom PCR Arrays for HARS
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HARS

    (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 HARS gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hars1 , 5 histidyl-tRNA synthetase1, 5 88.34(n)1
    94.89(a)1
      18 (19.46 cM)5
    151151  NM_008214.41  NP_032240.31 
     367665305 
    chicken
    (Gallus gallus)
    Aves HARS1 histidyl-tRNA synthetase 77.29(n)
    83.77(a)
      416132  NM_001006144.1  NP_001006144.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    73(a)
    1 → many
    4(77682055-77744183)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU904843.12   -- 73.61(n)    BU904843.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.41612 Transcribed sequence with weak similarity to protein more 75.81(n)    57054842 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG63353
    Aats-his1
    histidine-tRNA ligase3
    Histidyl-tRNA synthetase1
    63(a)3
    62.65(n)1
    65.86(a)1
      17C13
    328411  NM_167624.21  NP_728180.11 
    worm
    (Caenorhabditis elegans)
    Secernentea hrs-13
    hars-11
    histidyl-tRNA synthetase (cytoplasmic)3
    hars-11
    53(a)3
    57.59(n)1
    56.91(a)1
      IV(10859154-10861249)3
    1779781  NM_001028202.41  NP_001023373.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HTS1(YPR033C)4
    HTS11
    Cytoplasmic and mitochondrial histidine tRNA synthetase; more4
    HTS11
    54.34(n)1
    55.25(a)1
      16(639019-637379)4
    8561451, 4  NP_015358.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G027601 AT3G02760 58.18(n)
    58.41(a)
      820930  NM_111144.5  NP_186925.4 
    rice
    (Oryza sativa)
    Liliopsida AK099789.12   -- 78.04(n)    AK099789.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HARS gene
    HARS22  
    2 SIMAP similar genes for HARS using alignment to 7 protein entries:     SYHC_HUMAN (see all proteins):
    HARS2    HRS

    HARS for paralogs           About GeneDecksing



    (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)
    About This Section

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    Selected SNPs for HARS (see all 474)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0679184
    Usher syndrome 3B (USH3B)4--see VAR_0679182 Y S mis40--------
    rs732715911,2
    C,F--140063288(+) GACACG/ACCCCT 4 -- int15Minor allele frequency- A:0.09WA CSA 125
    rs1124273451,2
    F--140063532(+) TGCACC/AACTGC 4 -- int11Minor allele frequency- A:0.50CSA 2
    rs597022631,2
    C--140064768(+) AAAAA-/AGAACA 4 -- int10--------
    rs3727586901,2
    C--140065304(+) TGTCT-/AAAAAAA 4 -- int10--------
    rs609165711,2
    C--140070044(+) AAAAA-/ATCTGT 4 -- int10--------
    rs1141764781,2
    C,F--140329675(+) CTGTGG/ATACTG 4 -- ds50012Minor allele frequency- A:0.00NA EU 977
    rs2017587451,2
    C--140329701(+) ACCCCC/TGCTCC 4 -- ds50010--------
    rs1124397611,2
    C--140329717(+) GGCTCG/ACCGGC 4 -- ds50012Minor allele frequency- A:0.04CSA WA 120
    rs1486140301,2
    C--140329808(+) AACTTC/TCTCCC 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for HARS (140052758 - 140071609 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HARS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830508CNV Loss17160897

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

    (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.)
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    OMIM gene information: 142810   
    OMIM disorders: 614504  
    UniProtKB/Swiss-Prot: SYHC_HUMAN, P12081
  • Usher syndrome 3B (USH3B) [MIM:614504]: A syndrome characterized by progressive vision and hearing loss
    during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual
    acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the
    association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and
    vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome
    type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction,
    and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of
    central visual acuity, usually by the second decade of life. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Note=HARS mutations may be involved in peripheral neuropathy, a disease mainly characterized by distal
    motor and sensory dysfunction. Inherited peripheral neuropathies are clinically and genetically heterogeneous
    with variable age of onset and reduced penetrance associated with specific loci. HARS mutations may directly
    predispose patients to peripheral neuropathy or may modify a peripheral neuropathy phenotype by contributing to
    the genetic and environmental load in a given patient (PubMed:22930593)

  • Selected diseases for HARS (see all 34):    
    About MalaCards
    facial hemiatrophy    liver angiosarcoma    polymyositis    usher syndrome type 3
    antisynthetase syndrome    charles bonnet syndrome    usher syndrome type 3b    usher syndrome type 3a
    dermatomyositis    inherited peripheral neuropathy    systemic scleroderma    angiosarcoma
    generalized anxiety disorder    anxiety disorder    usher syndrome    androgen insensitivity syndrome
    myositis    peripheral neuropathy    scleroderma    interstitial lung disease

    4 diseases from the University of Copenhagen DISEASES database for HARS:
    Myositis     Interstitial lung disease     Facial hemiatrophy     Dermatitis

    HARS for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for HARS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myositis 78.2 11 9287147 (4), 1688885 (2), 17665459 (1)
    polymyositis 65.8 1 12235211 (1)

    Human Genome Epidemiology (HuGE) Navigator: HARS (1 document)

    Export disorders for HARS 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 HARS gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with HARS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene oriented in a head-to-head configuration with the human histidyl-tRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS. (PubMed id 7755634)1, 2, 9 O'Hanlon T.P.... Miller F.W. (Biochem. Biophys. Res. Commun. 1995)
    2. Transcriptional analyses of the gene region that encodes human histidyl-tRNA synthetase: identification of a novel bidirectional regulatory element. (PubMed id 8406012)1, 2, 9 Tsui H.W.... Tsui F.W.L. (Gene 1993)
    3. Human histidyl-tRNA synthetase: recognition of amino acid signature regions in class 2a aminoacyl-tRNA synthetases. (PubMed id 1549469)1, 2, 9 Raben N.... Plotz P. (Nucleic Acids Res. 1992)
    4. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. (PubMed id 22930593)1, 2 Vester A.... Antonellis A. (Hum. Mutat. 2013)
    5. Genetic mapping and exome sequencing identify variants associated with five novel diseases. (PubMed id 22279524)1, 2 Puffenberger E.G....Strauss K.A. (PLoS ONE 2012)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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)
    8. Isolation, structure and expression of mammalian genes for histidyl- tRNA synthetase. (PubMed id 3554142)1, 2 Tsui F.W.L. and Siminovitch L. (Nucleic Acids Res. 1987)
    9. Novel conformation of histidyl-transfer RNA synthetase in the lung: the target tissue in Jo-1 autoantibody-associated myositis. (PubMed id 17665459)1, 9 Levine S.M....Casciola-Rosen L.A. (Arthritis Rheum. 2007)
    10. Cellular localization of the target structures recognized by the anti-Jo-1 antibody: immunofluorescence studies on cultured human myoblasts. (PubMed id 2023220)1, 9 Shi M.H....Rubin L.A. (J. Rheumatol. 1991)

    (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)
    About This Section

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    Entrez Gene: 3035 HGNC: 4816 AceView: HARS Ensembl:ENSG00000170445 euGenes: HUgn3035
    ECgene: HARS Kegg: 3035 H-InvDB: HARS

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for HARS 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 HARS gene:
    Search GeneIP for patents involving HARS

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



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