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EPRS Gene

protein-coding   GIFtS: 69
GCID: GC01M220141

Glutamyl-Prolyl-TRNA Synthetase


(Previous symbols: QPRS, QARS)
  See EPRS-related disease
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
Glutamyl-Prolyl-TRNA Synthetase1 2     Bifunctional Glutamate/Proline--TRNA Ligase2
QARS1 2 3     Glutaminyl-TRNA Synthetase2
QPRS1 2 3     Proliferation-Inducing Gene 32 Protein2
PARS2 3 5     Proliferation-Inducing Protein 322
Glutamate TRNA Ligase1 2     Proline-TRNA Ligase2
Proline TRNA Ligase1 2     Prolyl-TRNA Synthetase2
Bifunctional Aminoacyl-TRNA Synthetase2 3     GLNS3
Cell Proliferation-Inducing Gene 32 Protein2 3     EC 6.1.18
Glutamatyl-Prolyl-TRNA Synthetase2 3     EC 6.1.1.158
EARS2     EC 6.1.1.188
GLUPRORS2     

External Ids:    HGNC: 34181   Entrez Gene: 20582   Ensembl: ENSG000001366287   OMIM: 1382955   UniProtKB: P078143   

Export aliases for EPRS gene to outside databases

Previous GC identifers: GC01M218738 GC01M215985 GC01M216688 GC01M217198 GC01M216530 GC01M218208 GC01M190816


(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 EPRS 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 multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic
acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature
and biological validity of the variant have not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for EPRS Gene:
EPRS (glutamyl-prolyl-tRNA synthetase) is a protein-coding gene. Diseases associated with EPRS include hemorrhagic cystitis. GO annotations related to this gene include proline-tRNA ligase activity and RNA stem-loop binding.

UniProtKB/Swiss-Prot: SYEP_HUMAN, P07814
Function: Catalyzes the attachment of the cognate amino acid to the corresponding tRNA in a two-step reaction: the
amino acid is first activated by ATP to form a covalent intermediate with AMP and is then transferred to the
acceptor end of the cognate tRNA. Component of the GAIT (gamma interferon-activated inhibitor of translation)
complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation
processes. Upon interferon-gamma activation and subsequent phosphorylation dissociates from the multisynthetase
complex and assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of
diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation

Gene Wiki entry for EPRS 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_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the EPRS gene promoter:
         STAT5B   STAT1   STAT4   STAT2   STAT6   STAT3   STAT1beta   STAT5A   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPRS promoter sequence
   Search Chromatin IP Primers for EPRS

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


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

Entrez Gene cytogenetic band: 1q41   Ensembl cytogenetic band:  1q41   HGNC cytogenetic band: 1q41

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M220141:  view genomic region     (about GC identifiers)

Start:
220,141,942 bp from pter      End:
220,220,000 bp from pter
Size:
78,059 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: SYEP_HUMAN, P07814 (See protein sequence)
Recommended Name: Bifunctional glutamate/proline--tRNA ligase  
Size: 1512 amino acids; 170591 Da
Subunit: Component of the multisynthetase complex which is comprised of a bifunctional glutamyl-prolyl-tRNA
synthetase, the monospecific isoleucyl, leucyl, glutaminyl, methionyl, lysyl, arginyl, and aspartyl-tRNA
synthetases as well as three auxiliary proteins, p18, p48 and p43. Interacts with DUS2L. Component of the GAIT
complex; in humans the complex assembly seems to be a two-step process in which EPRS first associates with
SYNCRIP to form a pre-GAIT complex which is deficient in GAIT element binding
Caution: Was originally thought to be a glutaminyl-tRNA synthetase
Sequence caution: Sequence=AAH15494.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH34797.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH46156.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH58921.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAS72877.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAA30354.1; Type=Miscellaneous discrepancy; Note=Sequencing errors; Sequence=CAA38224.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
5 PDB 3D structures from and Proteopedia for EPRS:
1FYJ (3D)        4HVC (3D)        4K86 (3D)        4K87 (3D)        4K88 (3D)    
Secondary accessions: A0AVA9 B9EGH3 Q05BP6 Q05DF8 Q5DSM1 Q5H9S5 Q6PD57 Q86X73

Explore the universe of human proteins at neXtProt for EPRS: NX_P07814

Explore proteomics data for EPRS at MOPED

Post-translational modifications: 

  • Phosphorylated at Ser-886 by CDK5 and at Ser-999 by an unknown kinase in a IFN-gamma-dependent manner in
    monocytes; these sequential phosphorylations are causing release from the multisynthetase complex, association
    with the GAIT complex and subsequent involvement in transcript-selective translation inhibition. Phosphorylation
    at Ser-999 is specifically required for the interaction of GAIT complex-associated RPL13A with eIF4G1
  • Ubiquitination2 at Lys229, Lys435, Lys472, Lys535, Lys782, Lys861, Lys943, Lys1132, Lys1143, Lys1375,
                                 Lys1435, Lys1503
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for EPRS (P07814) (see all 8)
     RRDTGEK  LRAKIDM  RFDDTNP  WELKGVP 


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

    REFSEQ proteins: NP_004437.2  
    ENSEMBL proteins: 
     ENSP00000355890   ENSP00000477245   ENSP00000477493  
    Reactome Protein details: P07814

    EPRS Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for EPRS

     
    Search eBioscience for Proteins for EPRS 

    EPRS Antibody Products:

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    LSBio Antibodies in human, mouse, rat for EPRS

    EPRS Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EPRS
    Cloud-Clone Corp. CLIAs for EPRS
    Search eBioscience for ELISAs for EPRS 


    (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
    aaRS1: Aminoacyl tRNA synthetases / Class I

    Selected InterPro protein domains (see all 18):
     IPR002314 aa-tRNA-synt_IIb_cons-dom
     IPR020056 Rbsml_L25/Gln-tRNA_synth_b-brl
     IPR000738 WHEP-TRS
     IPR006195 aa-tRNA-synth_II
     IPR000924 Glu/Gln-tRNA-synth

    Graphical View of Domain Structure for InterPro Entry P07814

    ProtoNet protein and cluster: P07814

    4 Blocks protein domains:
    IPB000738 WHEP-TRS domain
    IPB000924 Glutamyl-tRNA synthetase signature
    IPB002316 Prolyl-tRNA synthetase signature
    IPB004154 Anticodon binding domain


    UniProtKB/Swiss-Prot: SYEP_HUMAN, P07814
    Domain: The WHEP-TRS domain is involved in RNA binding
    Similarity: In the N-terminal section; belongs to the class-I aminoacyl-tRNA synthetase family
    Similarity: In the C-terminal section; belongs to the class-II aminoacyl-tRNA synthetase family
    Similarity: Contains 3 WHEP-TRS domains


    Find genes that share domains with EPRS           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: SYEP_HUMAN, P07814
    Function: Catalyzes the attachment of the cognate amino acid to the corresponding tRNA in a two-step reaction: the
    amino acid is first activated by ATP to form a covalent intermediate with AMP and is then transferred to the
    acceptor end of the cognate tRNA. Component of the GAIT (gamma interferon-activated inhibitor of translation)
    complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation
    processes. Upon interferon-gamma activation and subsequent phosphorylation dissociates from the multisynthetase
    complex and assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of
    diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation
    Catalytic activity: ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu)
    Catalytic activity: ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro)

         Genatlas biochemistry entry for EPRS:
    glutamyl-prolyl-tRNA synthetase

         Enzyme Numbers (IUBMB): EC 6.1.1.182 EC 6.1.12 EC 6.1.1.152

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004818glutamate-tRNA ligase activity TAS--
    GO:0004827proline-tRNA ligase activity TAS--
    GO:0005515protein binding IPI10913161
         
    Find genes that share ontologies with EPRS           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for EPRS:
     Decreased influenza A virus in  Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         1 MGI phenotypic allele for Eprs (no phenotypes)

    Find genes that share phenotypes with EPRS           About GenesLikeMe

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target EPRS:
    hsa-mir-193b-3p (MIRT041245), hsa-mir-140-3p (MIRT038646), hsa-mir-155-5p (MIRT021005)

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

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EPRS (NM_004446)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPRS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPRS

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


    (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
    SYEP_HUMAN, P07814: Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS8188258
    GO:0005829cytosol TAS--
    GO:0030529ribonucleoprotein complex IDA15479637
    GO:0097452GAIT complex IDA15479637

    Find genes that share ontologies with EPRS           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 EPRS About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1tRNA Aminoacylation
    tRNA Aminoacylation0.57
    Aminoacyl-tRNA biosynthesis0.52
    Cytosolic tRNA aminoacylation0.57
    2Metabolism of porphyrins
    Porphyrin and chlorophyll metabolism0.56
    3Gene Expression
    Gene Expression0.40
    4Metabolism
    Metabolic pathways0.38
    5CDK-mediated phosphorylation and removal of Cdc6
    Parkinson's Disease Pathway0.31


    Find genes that share SuperPaths with EPRS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for EPRS
        Parkinson's Disease Pathway

    1 BioSystems Pathway for EPRS
        Parkinsons Disease Pathway

    1 Reactome Pathway for EPRS
        Cytosolic tRNA aminoacylation


    3 Kegg Pathways  (Kegg details for EPRS):
        Porphyrin and chlorophyll metabolism
    Aminoacyl-tRNA biosynthesis
    Metabolic pathways

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

        GeneGlobe Interaction Network for EPRS

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

    Selected Interacting proteins for EPRS (P078141, 2, 3 ENSP000003558904) via UniProtKB, MINT, STRING, and/or I2D (see all 382)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IARSP412521, 2, 3, ENSP000003647944EBI-355315,EBI-355303 MINT-15365 MINT-15364 I2D: score=5 STRING: ENSP00000364794
    NELFCDQ8IXH72, 3, ENSP000003423004MINT-64854 I2D: score=5 STRING: ENSP00000342300
    IKBKBO149202, 3, ENSP000003391514MINT-48073 I2D: score=2 STRING: ENSP00000339151
    NFKB2Q006532, 3, ENSP000001894444MINT-48714 I2D: score=2 STRING: ENSP00000189444
    RELBQ012012, 3, ENSP000002214524MINT-48989 I2D: score=2 STRING: ENSP00000221452
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation ----
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006424glutamyl-tRNA aminoacylation IEA--
    GO:0006433prolyl-tRNA aminoacylation IEA--
    GO:0006461protein complex assembly TAS8188258

    Find genes that share ontologies with EPRS           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 EPRS (SYEP)

    7 HMDB Compounds for EPRS    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--
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Proline(-)-(S)-Proline (see all 16)147-85-3--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    5 DrugBank Compounds for EPRS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--9063462 17139284 17016423 8132637
    '5'-O-(N-(L-Alanyl)-Sulfamoyl)Adenosine-- --target--17139284 17016423 10592235
    '5'-O-(N-(L-Prolyl)-Sulfamoyl)Adenosine-- --target--17139284 17016423 10592235
    5'-O-(N-(L-Cysteinyl)-Sulfamoyl)Adenosine-- --target--17139284 17016423 10592235
    L-Proline(-)-2-Pyrrolidinecarboxylic acid (see all 6)147-85-3target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for EPRS gene (see all 37)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-iodo-6-amino-1,2-benzopyrone 87.3 8 9759901 (1), 9496941 (1), 9520459 (1), 11431007 (1) (see all 5)
    3-aminobenzamide 74.5 32 9832385 (3), 9032115 (2), 9463632 (2), 9670921 (1) (see all 12)
    adpribose 73.6 20 9670921 (1), 10638671 (1), 15134512 (1), 11525764 (1) (see all 18)
    peroxynitrite 71.2 50 12412622 (6), 9239421 (5), 10188990 (5), 9520459 (4) (see all 23)
    aminoacyl-trna 70.9 6 17161369 (1), 8188258 (1), 9063462 (1), 9878398 (1) (see all 5)
    gln-trna(gln) 69.2 2 7783222 (1), 8078941 (1)
    serine 67.3 37 11448145 (2), 12645829 (1), 16951492 (1), 16903872 (1) (see all 32)
    trna(gln) 65.1 3 8078941 (1)
    maba 64.9 1 9832385 (1)
    trna 62.2 63 9556618 (3), 10913161 (3), 9283975 (3), 19647514 (2) (see all 17)



    Find genes that share compounds with EPRS           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 EPRS gene: 
    NM_004446.2  

    Unigene Cluster for EPRS:

    Glutamyl-prolyl-tRNA synthetase
    Hs.497788  [show with all ESTs]
    Unigene Representative Sequence: NM_004446
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366923(uc001hly.1 uc010puf.1 uc001hlz.1 uc009xdt.1)
    ENST00000468487 ENST00000485821 ENST00000609181 ENST00000464052 ENST00000477030

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    GenScript: all cDNA clones in your preferred vector: EPRS (NM_004446)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPRS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPRS
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      QuantiFast Probe-based Assays in human, mouse, rat EPRS

    Additional mRNA sequence: 

    AK296755.1 AK298192.1 AK307534.1 AY493416.1 BC015494.1 BC034797.1 BC046156.1 BC058921.1 
    BC067841.1 BC105983.1 BC126275.1 BC136465.1 CR933648.1 JQ080075.1 X07466.1 X54326.1 

    20 DOTS entries:

    DT.92455592  DT.100881512  DT.95246333  DT.121404221  DT.319485  DT.100881516  DT.100881518  DT.95246331 
    DT.102832961  DT.121404223  DT.95246403  DT.95246408  DT.100734078  DT.100881515  DT.100881517  DT.121404199 
    DT.40207472  DT.92455590  DT.102832959  DT.121404201 

    Selected AceView cDNA sequences (see all 564):

    CB243680 BU156639 BM787906 BP359108 BE222892 BQ006104 AA330468 AA968511 
    CF146598 BM825363 BM564603 BF792141 AI951332 BQ423830 CA425873 BF056306 
    BP358238 NM_004446 BM800067 BQ917513 BM806750 BM786602 BM835046 BQ950403 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EPRS (see all 17)    About this scheme

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

    ExUns: 18b ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:  -                                                                                                                                                         
    SP5:                                                                                -                                                                           

    ExUns: 35b ^ 36a · 36b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for EPRS

    (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)
    About This Section

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


    EPRS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Adrenal Gland (Endocrine System)
    EPRS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EPRS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.497788
        Custom PCR Arrays for EPRS
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for EPRS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPRS
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    QuantiFast Probe-based Assays in human, mouse, rat EPRS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPRS

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EPRS gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eprs1 , 5 glutamyl-prolyl-tRNA synthetase1, 5 86.16(n)1
    89.42(a)1
      1 (89.50 cM)5
    1075081  NM_029735.11  NP_084011.11 
     1853630955 
    chicken
    (Gallus gallus)
    Aves EPRS6
    Gallus gallus glutamyl-prolyl-tRNA synthetase (EPR...
    77(a)
    1 ↔ 1
    3(18167012-18205003)
    lizard
    (Anolis carolinensis)
    Reptilia EPRS6
    glutamyl-prolyl-tRNA synthetase
    81(a)
    1 ↔ 1
    1(243199238-243257384)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.213782 Xenopus laevis transcribed sequence with strong similarity more 76.15(n)    BU909251.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb06c032 Transcribed sequence with moderate similarity to protein more 77.4(n)    CK236183.1 
    worm
    (Caenorhabditis elegans)
    Secernentea prs-13 Prolyl-tRNA synthetase region 53(a)
    (best of 2)
      III(7310784-7312847)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YHR020W)4
    GUS11
    Protein of unknown function that may interact with more4
    GUS11
    54.66(n)1
    48.45(a)1
      8(143996-146062)4
    8526061  NP_011269.21  8564134 
     NP_011884.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G267101 AT5G26710 52.18(n)
    43.9(a)
      832718  NM_180543.2  NP_850874.1 
    rice
    (Oryza sativa)
    Liliopsida Os.60592 Rice mRNA for glutaminyl-tRNA synthetase, partial sequence 73.8(n)    AK104881.1 


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

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

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    Paralogs for EPRS gene
    1 SIMAP similar gene for EPRS using alignment to 4 protein entries:     SYEP_HUMAN (see all proteins):
    QARS

    Find genes that share paralogs with EPRS           About GenesLikeMe



    (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 EPRS (see all 1929)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs20300791,2
    C,F,A--220141533(-) GCCCCT/CACCAT 1 -- ds500113Minor allele frequency- C:0.47NA WA CSA EA 376
    rs1410675181,2
    C--220141600(+) CAGACA/GGAAAC 1 -- ds50010--------
    rs1431977811,2
    --220141602(+) GACAGA/CAACTG 1 -- ds50010--------
    rs20300781,2
    C,F,A,H--220141633(-) AGTTAG/CTATCA 1 -- ds500130Minor allele frequency- C:0.47NS EA NA WA CSA 2780
    rs1820598481,2
    --220141774(+) GCTTCG/TAGACC 1 -- ds50010--------
    rs170069311,2
    C,F,H--220141778(+) CGAGAC/TCTATC 1 -- ds500117Minor allele frequency- T:0.07NA NS EA WA 1926
    rs38169941,2
    C,F,H--220141851(-) GCCAGA/CTATCT 1 -- ds500126Minor allele frequency- C:0.47EA NS NA WA CSA 3634
    rs786540471,2
    C,F--220141922(+) GAAACA/GAATGA 1 -- ds50011Minor allele frequency- G:0.03EA 120
    rs1117218111,2
    C--220141964(+) TTACTA/GGAGTT 1 -- ut311Minor allele frequency- G:0.33CSA 3
    rs1482907121,2
    C--220142022(+) ATTGTC/TCTGTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for EPRS (220141942 - 220220000 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for EPRS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4632CNV Insertion18451855
    esv1351321CNV Insertion17803354
    nsv819514CNV Loss19587683
    nsv832636CNV Loss17160897
    esv5550CNV Gain19470904
    esv9238CNV Gain19470904

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EPRS
    DNA2.0 Custom Variant and Variant Library Synthesis for EPRS

    (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.)
    About This Section

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    OMIM gene information: 138295    OMIM disorders: --

    1 disease for EPRS:    
    About MalaCards
    hemorrhagic cystitis


    Find genes that share disorders with EPRS           About GenesLikeMe

    Selected Novoseek inferred disease relationships for EPRS gene (see all 44)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inflammation 59.6 58 15051630 (3), 17397548 (3), 9683009 (3), 11239578 (2) (see all 41)
    vascular ring 47.1 1 12412622 (1)
    thrombosis 44.2 8 12161502 (1), 15707890 (1), 20131237 (1), 16332977 (1) (see all 8)
    airways disease 36.5 6 11448145 (2), 14633513 (2)
    neurodegeneration 28.5 3 16476770 (1), 17191106 (1), 17915333 (1)
    shock 23.8 4 12412622 (2), 9670921 (1), 10638671 (1)
    cell damage 20.7 14 9756394 (4), 9832385 (3), 10638671 (1), 10567849 (1)
    neurodegenerative diseases 15.8 5 17915333 (3), 17911636 (1)
    restenosis 14.8 1 10535908 (1)
    asthma 11.6 2 11448145 (1), 19845685 (1)

    Genetic Association Database (GAD): EPRS
    Human Genome Epidemiology (HuGE) Navigator: EPRS (1 document)

    Export disorders for EPRS 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

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    PubMed articles for EPRS gene, integrated from 10 sources (see all 335):
    (articles sorted by number of sources associating them with EPRS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The primary structure of human glutaminyl-tRNA synthetase. A highly conserved core, amino acid repeat regions, and homologies with translation elongation factors. (PubMed id 1988429)1, 2, 3 Fett R. and Knippers R. (J. Biol. Chem. 1991)
    2. Two-site phosphorylation of EPRS coordinates multimodal regulation of noncanonical translational control activity. (PubMed id 19647514)1, 2, 9 Arif A.... Fox P.L. (Mol. Cell 2009)
    3. Noncanonical function of glutamyl-prolyl-tRNA synthetase: gene- specific silencing of translation. (PubMed id 15479637)1, 2, 9 Sampath P.... Fox P.L. (Cell 2004)
    4. Structural analysis of multifunctional peptide motifs in human bifunctional tRNA synthetase: identification of RNA-binding residues and functional implications for tandem repeats. (PubMed id 11123902)1, 2, 9 Jeong E.-J.... Kim K.-S. (Biochemistry 2000)
    5. A novel human tRNA-dihydrouridine synthase involved in pulmonary carcinogenesis. (PubMed id 15994936)1, 2, 9 Kato T.... Nakamura Y. (Cancer Res. 2005)
    6. Phosphorylation of glutamyl-prolyl tRNA synthetase by cyclin- dependent kinase 5 dictates transcript-selective translational control. (PubMed id 21220307)1, 2 Arif A.... Fox P.L. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    9. Exons encoding the highly conserved part of human glutaminyl-tRNA synthetase. (PubMed id 1556743)1, 2 Kaiser E.... Knippers R. (J. Mol. Evol. 1992)
    10. A component of the multisynthetase complex is a multifunctional aminoacyl-tRNA synthetase. (PubMed id 1756734)1, 2 Cerini C.... Semeriva M. (EMBO J. 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: 2058 HGNC: 3418 AceView: EPRS Ensembl:ENSG00000136628 euGenes: HUgn2058
    ECgene: EPRS Kegg: 2058 H-InvDB: EPRS

    (According to HUGE)
    About This Section

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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 EPRS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for EPRS gene:
    Search GeneIP for patents involving EPRS

    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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