Human Gene EPRS1 (ENST00000366923.8_7) from GENCODE V47lift37
  Description: glutamyl-prolyl-tRNA synthetase 1 (from RefSeq NM_004446.3)
Gencode Transcript: ENST00000366923.8_7
Gencode Gene: ENSG00000136628.18_9
Transcript (Including UTRs)
   Position: hg19 chr1:220,141,942-220,219,847 Size: 77,906 Total Exon Count: 32 Strand: -
Coding Region
   Position: hg19 chr1:220,142,148-220,219,730 Size: 77,583 Coding Exon Count: 32 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:220,141,942-220,219,847)mRNA (may differ from genome)Protein (1512 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYEP_HUMAN
DESCRIPTION: RecName: Full=Bifunctional glutamate/proline--tRNA ligase; AltName: Full=Bifunctional aminoacyl-tRNA synthetase; AltName: Full=Cell proliferation-inducing gene 32 protein; Includes: RecName: Full=Glutamate--tRNA ligase; EC=6.1.1.17; AltName: Full=Glutamyl-tRNA synthetase; Short=GluRS; Includes: RecName: Full=Proline--tRNA ligase; EC=6.1.1.15; AltName: Full=Prolyl-tRNA synthetase;
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 (By similarity).
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).
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.
INTERACTION: P41252:IARS; NbExp=4; IntAct=EBI-355315, EBI-355303;
DOMAIN: The WHEP-TRS domain is involved in RNA binding.
PTM: Phosphorylated at Ser-886 by CDK5 in a IFN-gamma-dependent manner; this phosphorylation activates assembly of the GAIT (IFN- gamma-activated inhibitor of translation) complex, which suppresses expression of a post-transcriptional regulon of proinflammatory genes in myeloid cells.
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.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 53.11 RPKM in Cells - Cultured fibroblasts
Total median expression: 897.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -50.10117-0.428 Picture PostScript Text
3' UTR -30.90206-0.150 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002314 - aa-tRNA-synt_IIb_cons-dom
IPR001412 - aa-tRNA-synth_I_CS
IPR006195 - aa-tRNA-synth_II
IPR004154 - Anticodon-bd
IPR004526 - Glu-tRNA-synth_Ib_arc/euk
IPR000924 - Glu/Gln-tRNA-synth_Ib
IPR020061 - Glu/Gln-tRNA-synth_Ib_a-bdl
IPR020058 - Glu/Gln-tRNA-synth_Ib_cat-dom
IPR020059 - Glu/Gln-tRNA-synth_Ib_codon-bd
IPR010987 - Glutathione-S-Trfase_C-like
IPR004499 - Pro-tRNA-ligase_IIa_arc-type
IPR016061 - Pro-tRNA_ligase_II_C
IPR017449 - Pro-tRNA_synth_II
IPR020056 - Rbsml_L25/Gln-tRNA_synth_b-brl
IPR011035 - Ribosomal_L25/Gln-tRNA_synth
IPR014729 - Rossmann-like_a/b/a_fold
IPR009068 - S15_NS1_RNA-bd
IPR000738 - WHEP-TRS

Pfam Domains:
PF00043 - Glutathione S-transferase, C-terminal domain
PF00458 - WHEP-TRS domain
PF00587 - tRNA synthetase class II core domain (G, H, P, S and T)
PF00749 - tRNA synthetases class I (E and Q), catalytic domain
PF03129 - Anticodon binding domain
PF03950 - tRNA synthetases class I (E and Q), anti-codon binding domain
PF09180 - Prolyl-tRNA synthetase, C-terminal

SCOP Domains:
47060 - S15/NS1 RNA-binding domain
47616 - GST C-terminal domain-like
50715 - Ribosomal protein L25-like
52374 - Nucleotidylyl transferase
52954 - Class II aaRS ABD-related
55681 - Class II aaRS and biotin synthetases
64586 - C-terminal domain of ProRS

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1FYJ - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P07814
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003723 RNA binding
GO:0003824 catalytic activity
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004818 glutamate-tRNA ligase activity
GO:0004827 proline-tRNA ligase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008270 zinc ion binding
GO:0016874 ligase activity
GO:0035613 RNA stem-loop binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0051020 GTPase binding

Biological Process:
GO:0006412 translation
GO:0006417 regulation of translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006424 glutamyl-tRNA aminoacylation
GO:0006433 prolyl-tRNA aminoacylation
GO:0008152 metabolic process
GO:0017148 negative regulation of translation
GO:0032869 cellular response to insulin stimulus
GO:0043039 tRNA aminoacylation
GO:0044539 long-chain fatty acid import
GO:0065003 macromolecular complex assembly
GO:0071346 cellular response to interferon-gamma

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex
GO:0097452 GAIT complex
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  LF383671 - JP 2014500723-A/191174: Polycomb-Associated Non-Coding RNAs.
LP895188 - Sequence 52 from Patent EP3253886.
X54326 - H.sapiens mRNA for glutaminyl-tRNA synthetase.
CR933648 - Homo sapiens mRNA; cDNA DKFZp313B047 (from clone DKFZp313B047).
AY493416 - Homo sapiens proliferation-inducing protein 32 (PIG32) mRNA, complete cds.
BC136465 - Homo sapiens glutamyl-prolyl-tRNA synthetase, mRNA (cDNA clone MGC:168077 IMAGE:9020454), complete cds.
BC126275 - Homo sapiens glutamyl-prolyl-tRNA synthetase, mRNA (cDNA clone MGC:161553 IMAGE:8991991), complete cds.
BC034797 - Homo sapiens glutamyl-prolyl-tRNA synthetase, mRNA (cDNA clone IMAGE:4997672), partial cds.
AK296755 - Homo sapiens cDNA FLJ56021 partial cds, highly similar to Bifunctional aminoacyl-tRNA synthetase[Includes: Glutamyl-tRNA synthetase (EC 6.1.1.17).
BC105983 - Homo sapiens glutamyl-prolyl-tRNA synthetase, mRNA (cDNA clone IMAGE:6153037), partial cds.
AK307534 - Homo sapiens cDNA, FLJ97482.
X07466 - Human mRNA fragment for glutaminyl-tRNA synthetase (EC 6.1.1.18).
BC058921 - Homo sapiens glutamyl-prolyl-tRNA synthetase, mRNA (cDNA clone IMAGE:6172759), partial cds.
JQ080075 - Homo sapiens EPRSN1 mRNA, complete cds.
BC067841 - Homo sapiens glutamyl-prolyl-tRNA synthetase, mRNA (cDNA clone IMAGE:30347635).
BC046156 - Homo sapiens glutamyl-prolyl-tRNA synthetase, mRNA (cDNA clone IMAGE:5737489), partial cds.
BC015494 - Homo sapiens glutamyl-prolyl-tRNA synthetase, mRNA (cDNA clone IMAGE:3887698), partial cds.
MA619248 - JP 2018138019-A/191174: Polycomb-Associated Non-Coding RNAs.
AK298192 - Homo sapiens cDNA FLJ58269 complete cds, highly similar to Bifunctional aminoacyl-tRNA synthetase [Includes: Glutamyl-tRNA synthetase (EC 6.1.1.17).
LF321380 - JP 2014500723-A/128883: Polycomb-Associated Non-Coding RNAs.
JD312571 - Sequence 293595 from Patent EP1572962.
JD191129 - Sequence 172153 from Patent EP1572962.
LF321379 - JP 2014500723-A/128882: Polycomb-Associated Non-Coding RNAs.
LF321378 - JP 2014500723-A/128881: Polycomb-Associated Non-Coding RNAs.
LF321376 - JP 2014500723-A/128879: Polycomb-Associated Non-Coding RNAs.
LF321375 - JP 2014500723-A/128878: Polycomb-Associated Non-Coding RNAs.
LF321374 - JP 2014500723-A/128877: Polycomb-Associated Non-Coding RNAs.
LF321373 - JP 2014500723-A/128876: Polycomb-Associated Non-Coding RNAs.
LF321371 - JP 2014500723-A/128874: Polycomb-Associated Non-Coding RNAs.
LF321370 - JP 2014500723-A/128873: Polycomb-Associated Non-Coding RNAs.
LF321369 - JP 2014500723-A/128872: Polycomb-Associated Non-Coding RNAs.
LF321368 - JP 2014500723-A/128871: Polycomb-Associated Non-Coding RNAs.
LF321367 - JP 2014500723-A/128870: Polycomb-Associated Non-Coding RNAs.
LF321366 - JP 2014500723-A/128869: Polycomb-Associated Non-Coding RNAs.
LF321362 - JP 2014500723-A/128865: Polycomb-Associated Non-Coding RNAs.
LF321361 - JP 2014500723-A/128864: Polycomb-Associated Non-Coding RNAs.
LF321359 - JP 2014500723-A/128862: Polycomb-Associated Non-Coding RNAs.
LF321357 - JP 2014500723-A/128860: Polycomb-Associated Non-Coding RNAs.
LF321356 - JP 2014500723-A/128859: Polycomb-Associated Non-Coding RNAs.
DL491516 - Novel nucleic acids.
LF321355 - JP 2014500723-A/128858: Polycomb-Associated Non-Coding RNAs.
DL490125 - Novel nucleic acids.
LF321354 - JP 2014500723-A/128857: Polycomb-Associated Non-Coding RNAs.
LF321353 - JP 2014500723-A/128856: Polycomb-Associated Non-Coding RNAs.
LF321351 - JP 2014500723-A/128854: Polycomb-Associated Non-Coding RNAs.
MA556957 - JP 2018138019-A/128883: Polycomb-Associated Non-Coding RNAs.
MA556956 - JP 2018138019-A/128882: Polycomb-Associated Non-Coding RNAs.
MA556955 - JP 2018138019-A/128881: Polycomb-Associated Non-Coding RNAs.
MA556953 - JP 2018138019-A/128879: Polycomb-Associated Non-Coding RNAs.
MA556952 - JP 2018138019-A/128878: Polycomb-Associated Non-Coding RNAs.
MA556951 - JP 2018138019-A/128877: Polycomb-Associated Non-Coding RNAs.
MA556950 - JP 2018138019-A/128876: Polycomb-Associated Non-Coding RNAs.
MA556948 - JP 2018138019-A/128874: Polycomb-Associated Non-Coding RNAs.
MA556947 - JP 2018138019-A/128873: Polycomb-Associated Non-Coding RNAs.
MA556946 - JP 2018138019-A/128872: Polycomb-Associated Non-Coding RNAs.
MA556945 - JP 2018138019-A/128871: Polycomb-Associated Non-Coding RNAs.
MA556944 - JP 2018138019-A/128870: Polycomb-Associated Non-Coding RNAs.
MA556943 - JP 2018138019-A/128869: Polycomb-Associated Non-Coding RNAs.
MA556939 - JP 2018138019-A/128865: Polycomb-Associated Non-Coding RNAs.
MA556938 - JP 2018138019-A/128864: Polycomb-Associated Non-Coding RNAs.
MA556936 - JP 2018138019-A/128862: Polycomb-Associated Non-Coding RNAs.
MA556934 - JP 2018138019-A/128860: Polycomb-Associated Non-Coding RNAs.
MA556933 - JP 2018138019-A/128859: Polycomb-Associated Non-Coding RNAs.
MA556932 - JP 2018138019-A/128858: Polycomb-Associated Non-Coding RNAs.
MA556931 - JP 2018138019-A/128857: Polycomb-Associated Non-Coding RNAs.
MA556930 - JP 2018138019-A/128856: Polycomb-Associated Non-Coding RNAs.
MA556928 - JP 2018138019-A/128854: Polycomb-Associated Non-Coding RNAs.
LF321348 - JP 2014500723-A/128851: Polycomb-Associated Non-Coding RNAs.
LF321347 - JP 2014500723-A/128850: Polycomb-Associated Non-Coding RNAs.
LF321346 - JP 2014500723-A/128849: Polycomb-Associated Non-Coding RNAs.
LF321345 - JP 2014500723-A/128848: Polycomb-Associated Non-Coding RNAs.
MA556925 - JP 2018138019-A/128851: Polycomb-Associated Non-Coding RNAs.
MA556924 - JP 2018138019-A/128850: Polycomb-Associated Non-Coding RNAs.
MA556923 - JP 2018138019-A/128849: Polycomb-Associated Non-Coding RNAs.
MA556922 - JP 2018138019-A/128848: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
TRNA-CHARGING-PWY - tRNA charging

Reactome (by CSHL, EBI, and GO)

Protein P07814 (Reactome details) participates in the following event(s):

R-HSA-380008 lysine + tRNA(Lys) + ATP => Lys-tRNA(Lys) + AMP + pyrophosphate
R-HSA-379974 leucine + tRNA(Leu) + ATP => Leu-tRNA(Leu) + AMP + pyrophosphate
R-HSA-379861 glutamate + tRNA(Glu) + ATP => Glu-tRNA(Glu) + AMP + pyrophosphate
R-HSA-379893 isoleucine + tRNA(Ile) + ATP => Ile-tRNA(Ile) + AMP + pyrophosphate
R-HSA-379865 proline + tRNA(Pro) + ATP => Pro-tRNA(Pro) + AMP + pyrophosphate
R-HSA-379994 methionine + tRNA(Met) + ATP => Met-tRNA(Met) + AMP + pyrophosphate
R-HSA-379867 aspartate + tRNA(Asp) + ATP => Asp-tRNA(Asp) + AMP + pyrophosphate
R-HSA-379982 glutamine + tRNA(Gln) + ATP => Gln-tRNA(Gln) + AMP + pyrophosphate
R-HSA-379993 arginine + tRNA(Arg) + ATP => Arg-tRNA(Arg) + AMP + pyrophosphate
R-HSA-2408546 tRNA(Met) is selenomethionylated to SeMet-tRNA(Met) by multisynthetase complex
R-HSA-6782296 DUS2:EPRS reduces uridine to dihydrouridine in tRNAs
R-HSA-379716 Cytosolic tRNA aminoacylation
R-HSA-2408517 SeMet incorporation into proteins
R-HSA-6782315 tRNA modification in the nucleus and cytosol
R-HSA-379724 tRNA Aminoacylation
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-72306 tRNA processing
R-HSA-72766 Translation
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-8953854 Metabolism of RNA
R-HSA-392499 Metabolism of proteins
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A0AVA9, B9EGH3, ENST00000366923.1, ENST00000366923.2, ENST00000366923.3, ENST00000366923.4, ENST00000366923.5, ENST00000366923.6, ENST00000366923.7, EPRS , EPRS1 , GLNS, NM_004446, P07814, PARS, PIG32, Q05BP6, Q05DF8, Q5DSM1, Q5H9S5, Q6PD57, Q86X73, QARS , QPRS , SYEP_HUMAN, uc318fly.1, uc318fly.2
UCSC ID: ENST00000366923.8_7
RefSeq Accession: NM_004446.3
Protein: P07814 (aka SYEP_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.