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

EPRS Gene

protein-coding   GIFtS: 66
GCID: GC01M220141

glutamyl-prolyl-tRNA synthetase


(Previous symbols: QPRS, QARS)
 Explore 48 diseases affiliated with
EPRS via our new
 Human Malady Compendium 
Biological research products
for EPRS
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Glutamyl-Prolyl-TRNA Synthetase1 2     Glutaminyl-TRNA Synthetase2
PARS1 2 3 5     Proliferation-Inducing Gene 32 Protein2
QARS1 2 3     Proliferation-Inducing Protein 322
QPRS1 2 3     Proline TRNA Ligase2
EARS1 2     Proline-TRNA Ligase2
GLUPRORS1 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
Bifunctional Glutamate/Proline--TRNA Ligase2     EC 6.1.1.188
Glutamate TRNA Ligase2     

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

Entrez Gene summary for EPRS:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_167186.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EPRS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Cytoplasm (Probable)
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;
2 PDB 3D structures from and Proteopedia for EPRS:
1FYJ (3D)        4HVC (3D)    
Secondary accessions: A0AVA9 B9EGH3 Q05BP6 Q05DF8 Q5DSM1 Q5H9S5 Q6PD57 Q86X73

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P07814

  • 4/8 DME Specific Peptides for EPRS (P07814) (see all 8)
     RRDTGEK  LRAKIDM  RFDDTNP  WELKGVP 

    EPRS Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004437.2  
    ENSEMBL proteins: 
     ENSP00000355890  
    Reactome Protein details: P07814
    Human Recombinant Protein Products: 
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    Uscn Proteins for EPRS

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm TAS8188258
    GO:0005829cytosol TAS--
    GO:0030529ribonucleoprotein complex IDA15479637


    EPRS for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for EPRS


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    EPRS for domains           About GeneDecksing

    5/18 InterPro domains/families (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_Ib

    Graphical View of Domain Structure for InterPro Entry P07814

    ProtoNet protein and cluster: P07814

    4 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidEPRS 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EPRS (see all 7)
    OriGene shRNA RFP: EPRS
    OriGene siRNA: EPRS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPRS

    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPRS

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding ----
    GO:0004818glutamate-tRNA ligase activity TAS--
    GO:0004827proline-tRNA ligase activity TAS--
    GO:0005515protein binding IPI9556618
    GO:0005524ATP binding IEA--


    EPRS for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1tRNA Aminoacylation
    tRNA Aminoacylation1.00
    Aminoacyl-tRNA biosynthesis0.54
    Cytosolic tRNA aminoacylation0.57
    2Glutamic acid signaling
    Glutamic acid signaling1.00
    3Parkinsons Disease Pathway
    Parkinsons Disease Pathway1.00
    4Generic Transcription Pathway
    Gene Expression0.46
    5Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for EPRS
        Glutamic acid signaling

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

    1 BioSystems Pathway for EPRS 
        Parkinsons Disease Pathway

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


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


    EPRS for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EPRS

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

    5/237 Interacting proteins for EPRS (P078141, 2, 3 ENSP000003558904) via UniProtKB, MINT, STRING, and/or I2D (see all 237)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006424glutamyl-tRNA aminoacylation IEA--
    GO:0006433prolyl-tRNA aminoacylation IEA--
    GO:0006461protein complex assembly TAS8188258
    GO:0010467gene expression TAS--


    EPRS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EPRS for compounds           About GeneDecksing

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

    Browse Tocris compounds for EPRS

    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

    10/37 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about EPRS / SYEP 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366923(uc001hly.1 uc010puf.1 uc001hlz.1 uc009xdt.1)
    ENST00000468487 ENST00000485821 ENST00000464052 ENST00000477030

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPRS

    Additional cDNA 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 

    24/564 AceView cDNA sequences (see all 564):

    BG325924 CA395324 AA330468 CB134641 BC034797 AA418438 H89225 AA232865 
    AI951332 AA968511 BM457833 BU542002 AU123220 NM_004446 BF062459 AI916204 
    CA425873 BQ423830 BU164198 CR622328 CB215419 CA418882 BQ006104 BM746163 

    GeneLoc Exon Structure

    5/17 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™, 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

    EPRS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACTAAAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See EPRS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPRS

    SOURCE GeneReport for Unigene cluster: Hs.497788
        SABiosciences Custom PCR Arrays for EPRS
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    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

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for EPRS gene from 11/44 species (see all 44)    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 EPRS1 glutamyl-prolyl-tRNA synthetase 77.4(n)
    81.79(a)
      421348  NM_001006398.1  NP_001006398.1 
    lizard
    (Anolis carolinensis)
    Reptilia EPRS6
    PARS26
    --
    77(a)
    15(a)
    1 ↔ 1
    possible ortholog
    1(243199593-243250983)
    4(104460292-104461710)
    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta Aats-glupro3 glutamyl-tRNA aminoacylation proline-tRNA
    ligase
    52(a)   95D1   --
    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
    Gus1p1
    54.09(n)1
    47.67(a)1
      8(143996-146062)4
    8526061  NP_011269.21  8564134 
     NP_011884.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G267101 glutamyl-tRNA synthetase 52.46(n)
    44.36(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
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1591 NCBI SNPs in EPRS are shown (see all 1591    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
    --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
    F,--220141922(+) GAAACA/GAATGA 1 -- ds50011Minor allele frequency- G:0.03EA 120
    rs1482907121,2
    --220142022(+) ATTGTC/TCTGTG 1 -- ut310--------
    rs10612481,2
    C,F,A,H,--220142023(-) ACACAG/AGACAA 1 -- ut31 ese320Minor allele frequency- A:0.48EA NS NA WA CSA 2564

    HapMap Linkage Disequilibrium report for EPRS (220141942 - 220220000 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for EPRS
         3 Indels: 59984 58362 59983

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    (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

    EPRS for disorders           About GeneDecksing

    OMIM gene information: 138295    OMIM disorders: --

    20/48 diseases for EPRS (see all 48):    About MalaCards
    spinal cord injury    q fever    allergic encephalomyelitis    encephalomyelitis
    gastric ulcer    arteriosclerosis    brain injury    rheumatoid arthritis
    multiple sclerosis    neurodegenerative disease    antiphospholipid syndrome    gaucher's disease
    pleurisy    appendicitis    ischemia    thrombosis
    cystitis    hepatocellular carcinoma    prostate cancer    neurodegeneration

    10/44 Novoseek 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)

    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

    PubMed articles for EPRS gene, integrated from 9 sources (see all 324):
    (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. (1991)
    2. Two-site phosphorylation of EPRS coordinates multimod al regulation of noncanonical translational control activity. (PubMed id 19647514)1, 2, 9 Arif A....Fox P.L. (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. (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. (2000)
    5. A novel human tRNA-dihydrouridine synthase involved in pulmonary carcinogenesis. (PubMed id 15994936)1, 2, 9 Kato T.... Nakamura Y. (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. (2011)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    8. Exons encoding the highly conserved part of human glutaminyl-tRNA synthetase. (PubMed id 1556743)1, 2 Kaiser E.... Knippers R. (1992)
    9. A component of the multisynthetase complex is a multifunctional aminoacyl-tRNA synthetase. (PubMed id 1756734)1, 2 Cerini C.... Semeriva M. (1991)
    10. The core region of human glutaminyl-tRNA synthetase homologies with the Escherichia coli and yeast enzymes. (PubMed id 3290852)1, 2 Thoemmes P.... Knippers R. (1988)

    (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: 2058 HGNC: 3418 AceView: EPRS Ensembl:ENSG00000136628 euGenes: HUgn2058
    ECgene: EPRS Kegg: 2058 H-InvDB: EPRS

    (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 EPRS 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 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



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     Regulatory tfbs in EPRS promoter
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