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Aliases for EPRS Gene

Aliases for EPRS Gene

  • Glutamyl-Prolyl-TRNA Synthetase 2 3 5
  • Cell Proliferation-Inducing Gene 32 Protein 3 4
  • Bifunctional Aminoacyl-TRNA Synthetase 3 4
  • Glutamatyl-Prolyl-TRNA Synthetase 3 4
  • Glutamate TRNA Ligase 2 3
  • QARS 3 4
  • QPRS 3 4
  • PARS 3 4
  • Bifunctional Glutamate/Proline--TRNA Ligase 3
  • Proliferation-Inducing Gene 32 Protein 3
  • Proliferation-Inducing Protein 32 3
  • Glutaminyl-TRNA Synthetase 3
  • Prolyl-TRNA Synthetase 3
  • Proline-TRNA Ligase 3
  • Proline TRNA Ligase 2
  • GLUPRORS 3
  • HLD15 3
  • PIG32 3
  • EARS 3
  • GLNS 4

External Ids for EPRS Gene

Previous HGNC Symbols for EPRS Gene

  • QPRS
  • QARS

Previous GeneCards Identifiers for EPRS Gene

  • GC01M218738
  • GC01M215985
  • GC01M216688
  • GC01M217198
  • GC01M216530
  • GC01M218208
  • GC01M220141
  • GC01M190816

Summaries for EPRS Gene

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 Leukodystrophy, Hypomyelinating, 15 and Aqueous Misdirection. Among its related pathways are tRNA Aminoacylation and Parkinsons Disease Pathway. Gene Ontology (GO) annotations related to this gene include nucleotide binding and GTPase binding.

UniProtKB/Swiss-Prot for EPRS Gene

  • Multifunctional protein which is primarily part of the aminoacyl-tRNA synthetase multienzyme complex, also know as multisynthetase complex, that 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 (PubMed:1756734, PubMed:24100331, PubMed:23263184). The phosphorylation of EPRS, induced by interferon-gamma, dissociates the protein from the aminoacyl-tRNA synthetase multienzyme complex and recruits it to the GAIT complex that binds to stem loop-containing GAIT elements in the 3-UTR of diverse inflammatory mRNAs (such as ceruplasmin), suppressing their translation. Interferon-gamma can therefore redirect, in specific cells, the EPRS function from protein synthesis to translation inhibition (PubMed:15479637, PubMed:23071094). Also functions as an effector of the mTORC1 signaling pathway by promoting, through SLC27A1, the uptake of long-chain fatty acid by adipocytes. Thereby, it also plays a role in fat metabolism and more indirectly influences lifespan (PubMed:28178239).

Gene Wiki entry for EPRS Gene

Additional gene information for EPRS Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPRS Gene

Genomics for EPRS Gene

GeneHancer (GH) Regulatory Elements for EPRS Gene

Promoters and enhancers for EPRS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J220044 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.5 531 3 MLX FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 SSRP1 ZNF610 EPRS ZC3H11B RPS15AP12 GC01P220002
GH01J220114 Enhancer 1.2 ENCODE dbSUPER 16.6 -73.6 -73638 11.1 PKNOX1 FOXA2 ARNT FEZF1 ZNF2 YY1 ZNF213 E2F8 SP3 REST EPRS RPS15AP12 ZC3H11B RIMKLBP2 RAB3GAP2 ENSG00000272823 GC01P220118 MIR194-1 MIR215 IARS2
GH01J220088 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 6 -43.1 -43122 2 HDGF PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A DMAP1 IRF4 YY1 BPNT1 RPS15AP12 ZC3H11B RIMKLBP2 EPRS PIR35692
GH01J220092 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 5.9 -47.5 -47545 2.5 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B GC01M220094 IARS2 EPRS
GH01J220113 Enhancer 0.6 dbSUPER 16.9 -66.9 -66903 0.9 HDGF MEIS2 CTCF TRIM22 RAD21 CHAMP1 KLF16 ZNF143 CUX1 HOMEZ LOC105373475 EPRS RPS15AP12 MIR215 IARS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPRS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPRS gene promoter:

Genomic Locations for EPRS Gene

Genomic Locations for EPRS Gene
chr1:219,968,600-220,046,658
(GRCh38/hg38)
Size:
78,059 bases
Orientation:
Minus strand
chr1:220,141,942-220,220,000
(GRCh37/hg19)

Genomic View for EPRS Gene

Genes around EPRS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPRS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPRS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPRS Gene

Proteins for EPRS Gene

  • Protein details for EPRS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07814-SYEP_HUMAN
    Recommended name:
    Bifunctional glutamate/proline--tRNA ligase
    Protein Accession:
    P07814
    Secondary Accessions:
    • A0AVA9
    • B9EGH3
    • Q05BP6
    • Q05DF8
    • Q5DSM1
    • Q5H9S5
    • Q6PD57
    • Q86X73

    Protein attributes for EPRS Gene

    Size:
    1512 amino acids
    Molecular mass:
    170591 Da
    Quaternary structure:
    • Homodimer (PubMed:24100331, PubMed:23263184). Part of the aminoacyl-tRNA synthetase multienzyme complex, also know as multisynthetase complex, that is composed of the tRNA ligases for Arg (RARS), Asp (DARS), Gln (QARS), Ile (IARS), Leu (LARS), Lys (KARS), Met (MARS) the bifunctional ligase for Glu and Pro (EPRS) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464). Forms a linear complex that contains MARS, EEF1E1, EPRS and AIMP2 that is at the core of the multisubunit complex (PubMed:26472928). Interacts with DUS2L (PubMed:15994936). Component of the GAIT complex which is composed of EPRS, RPL13A and GAPDH. For human, 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 (PubMed:15479637). Interacts (phosphorylated at Ser-999) with SLC27A1; mediates the translocation of SLC27A1 from the cytoplasm to the plasma membrane thereby increasing the uptake of long-chain fatty acids (PubMed:28178239).
    SequenceCaution:
    • Sequence=AAH15494.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH34797.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH46156.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH58921.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAS72877.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA30354.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305}; Sequence=CAA38224.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EPRS Gene

neXtProt entry for EPRS Gene

Post-translational modifications for EPRS Gene

  • Phosphorylated at Ser-886 by CDK5 (PubMed:19647514, PubMed:21220307). Phosphorylated at Ser-999 by RPS6KB1; triggers EPRS release from the aminoacyl-tRNA synthetase multienzyme complex (PubMed:19647514, PubMed:21220307, PubMed:28178239). In monocytes, the IFN-gamma-induced sequential phosphorylation at Ser-886 and Ser-999 releases EPRS from the aminoacyl-tRNA synthetase multienzyme complex, allowing its association with the GAIT complex. Phosphorylation at Ser-999 is specifically required for the RPL13A-mediated interaction of the GAIT complex with eIF4G (PubMed:19647514, PubMed:21220307). Phosphorylation at Ser-999 by RPS6KB1, is also induced by insulin through activation of the mTORC1 signaling pathway and promotes the interaction of EPRS with SLC27A1 (PubMed:28178239).
  • Ubiquitination at Lys1503, isoforms=1435, Lys1375, Lys1143, isoforms=1132, Lys943, isoforms=861, isoforms=782, isoforms=535, Lys472, isoforms=435, and Lys229
  • Modification sites at PhosphoSitePlus

Other Protein References for EPRS Gene

No data available for DME Specific Peptides for EPRS Gene

Domains & Families for EPRS Gene

Gene Families for EPRS Gene

Suggested Antigen Peptide Sequences for EPRS Gene

Graphical View of Domain Structure for InterPro Entry

P07814

UniProtKB/Swiss-Prot:

SYEP_HUMAN :
  • The WHEP-TRS domains are involved in RNA binding.
  • In the N-terminal section; belongs to the class-I aminoacyl-tRNA synthetase family. Glutamate--tRNA ligase type 2 subfamily.
Domain:
  • The WHEP-TRS domains are involved in RNA binding.
Family:
  • In the N-terminal section; belongs to the class-I aminoacyl-tRNA synthetase family. Glutamate--tRNA ligase type 2 subfamily.
  • In the C-terminal section; belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with EPRS: view

Function for EPRS Gene

Molecular function for EPRS Gene

UniProtKB/Swiss-Prot Function:
Multifunctional protein which is primarily part of the aminoacyl-tRNA synthetase multienzyme complex, also know as multisynthetase complex, that 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 (PubMed:1756734, PubMed:24100331, PubMed:23263184). The phosphorylation of EPRS, induced by interferon-gamma, dissociates the protein from the aminoacyl-tRNA synthetase multienzyme complex and recruits it to the GAIT complex that binds to stem loop-containing GAIT elements in the 3-UTR of diverse inflammatory mRNAs (such as ceruplasmin), suppressing their translation. Interferon-gamma can therefore redirect, in specific cells, the EPRS function from protein synthesis to translation inhibition (PubMed:15479637, PubMed:23071094). Also functions as an effector of the mTORC1 signaling pathway by promoting, through SLC27A1, the uptake of long-chain fatty acid by adipocytes. Thereby, it also plays a role in fat metabolism and more indirectly influences lifespan (PubMed:28178239).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by halofuginone.
GENATLAS Biochemistry:
glutamyl-prolyl-tRNA synthetase

Phenotypes From GWAS Catalog for EPRS Gene

Gene Ontology (GO) - Molecular Function for EPRS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004818 glutamate-tRNA ligase activity TAS,IEA --
GO:0004827 proline-tRNA ligase activity TAS --
genes like me logo Genes that share ontologies with EPRS: view
genes like me logo Genes that share phenotypes with EPRS: view

Animal Models for EPRS Gene

MGI Knock Outs for EPRS:
  • Eprs Eprs<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for EPRS

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPRS Gene

Localization for EPRS Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPRS Gene

Cytoplasm, cytosol. Membrane; Peripheral membrane protein. Note=Translocates from cytosol to membranes upon phosphorylation at Ser-999. {ECO:0000269 PubMed:19289464, ECO:0000269 PubMed:28178239}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPRS gene
Compartment Confidence
cytosol 5
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EPRS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 10791971
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane HDA 19946888
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex IEA,IDA 10791971
genes like me logo Genes that share ontologies with EPRS: view

Pathways & Interactions for EPRS Gene

genes like me logo Genes that share pathways with EPRS: view

SIGNOR curated interactions for EPRS Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for EPRS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006417 regulation of translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006424 glutamyl-tRNA aminoacylation IBA,IEA --
GO:0006433 prolyl-tRNA aminoacylation IDA 24100331
genes like me logo Genes that share ontologies with EPRS: view

Drugs & Compounds for EPRS Gene

(22) Drugs for EPRS Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
L-Proline Approved Nutra Target 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 64
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0

(25) Additional Compounds for EPRS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with EPRS: view

Transcripts for EPRS Gene

mRNA/cDNA for EPRS Gene

Unigene Clusters for EPRS Gene

Glutamyl-prolyl-tRNA synthetase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPRS Gene

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:
SP6:
SP7:
SP8:
SP9: - - -
SP10: -
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16: -
SP17:

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: -
SP6: -
SP7:
SP8: -
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

ExUns: 35b ^ 36a · 36b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for EPRS Gene

GeneLoc Exon Structure for
EPRS
ECgene alternative splicing isoforms for
EPRS

Expression for EPRS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPRS Gene

Protein differential expression in normal tissues from HIPED for EPRS Gene

This gene is overexpressed in Lymph node (9.0) and Salivary gland (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPRS Gene



Protein tissue co-expression partners for EPRS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EPRS Gene:

EPRS

SOURCE GeneReport for Unigene cluster for EPRS Gene:

Hs.497788

Evidence on tissue expression from TISSUES for EPRS Gene

  • Nervous system(4.9)
  • Intestine(4.8)
  • Lung(4.8)
  • Eye(4.7)
  • Liver(4.7)
  • Bone marrow(4.2)
  • Heart(3.5)
  • Pancreas(3.5)
  • Kidney(3.3)
  • Blood(2.8)
  • Muscle(2.8)
  • Stomach(2.8)
  • Skin(2.1)
  • Gall bladder(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with EPRS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPRS Gene

Orthologs for EPRS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EPRS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPRS 34 33
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EPRS 34 33
  • 91.92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPRS 34 33
  • 90.49 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Eprs 16 34 33
  • 86.16 (n)
rat
(Rattus norvegicus)
Mammalia Eprs 33
  • 85.1 (n)
oppossum
(Monodelphis domestica)
Mammalia EPRS 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPRS 34
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPRS 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eprs 33
  • 71.24 (n)
Str.1851 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.21378 33
zebrafish
(Danio rerio)
Actinopterygii eprs 34 33
  • 68.23 (n)
OneToOne
wufb06c03 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14111 33
fruit fly
(Drosophila melanogaster)
Insecta Aats-glupro 35
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea prs-1 35
  • 53 (a)
ers-2 35
  • 49 (a)
ears-1 34
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUS1 34 33
  • 54.66 (n)
OneToOne
-- 36
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00682g 33
  • 54.61 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR264W 33
  • 52.55 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G26710 33
  • 52.18 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5281 33
rice
(Oryza sativa)
Liliopsida Os01g0271200 33
  • 53.75 (n)
Os.6059 33
barley
(Hordeum vulgare)
Liliopsida Hv.4312 33
corn
(Zea mays)
Liliopsida Zm.3156 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11263 34
  • 55 (a)
OneToOne
Cin.14752 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC17A5.15c 33
  • 53.49 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08894 33
  • 49.64 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14752 33
Species where no ortholog for EPRS was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EPRS Gene

ENSEMBL:
Gene Tree for EPRS (if available)
TreeFam:
Gene Tree for EPRS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPRS: view image

Paralogs for EPRS Gene

(1) SIMAP similar genes for EPRS Gene using alignment to 4 proteins:

  • SYEP_HUMAN
  • Q3KQZ8_HUMAN
  • V9GYZ6_HUMAN
  • V9GZ76_HUMAN
genes like me logo Genes that share paralogs with EPRS: view

No data available for Paralogs for EPRS Gene

Variants for EPRS Gene

Sequence variations from dbSNP and Humsavar for EPRS Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000005479 -- 219,984,604(-) G/A intron_variant
rs1000050882 -- 220,028,019(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000165503 -- 220,035,214(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000172801 -- 220,002,514(-) A/G intron_variant
rs1000210519 -- 219,990,985(-) G/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EPRS Gene

Variant ID Type Subtype PubMed ID
esv1351321 CNV insertion 17803354
esv5550 CNV gain 19470904
esv9238 CNV gain 19470904
nsv1078727 CNV insertion 25765185
nsv4632 CNV insertion 18451855
nsv819514 CNV loss 19587683
nsv832636 CNV loss 17160897
nsv998124 CNV gain 25217958

Variation tolerance for EPRS Gene

Residual Variation Intolerance Score: 2.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.75; 73.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPRS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPRS

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPRS Gene

Disorders for EPRS Gene

MalaCards: The human disease database

(4) MalaCards diseases for EPRS Gene - From: OMIM, ClinVar, and DISEASES

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 15
  • hld15
aqueous misdirection
deafness, autosomal recessive 98
  • dfnb98
separation anxiety disorder
  • separation anxiety disorder of childhood
- elite association - COSMIC cancer census association via MalaCards
Search EPRS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EPRS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EPRS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPRS Gene

Publications for EPRS Gene

  1. Two-site phosphorylation of EPRS coordinates multimodal regulation of noncanonical translational control activity. (PMID: 19647514) Arif A … Fox PL (Molecular cell 2009) 3 4 22 58
  2. A novel human tRNA-dihydrouridine synthase involved in pulmonary carcinogenesis. (PMID: 15994936) Kato T … Nakamura Y (Cancer research 2005) 3 4 22 58
  3. Noncanonical function of glutamyl-prolyl-tRNA synthetase: gene-specific silencing of translation. (PMID: 15479637) Sampath P … Fox PL (Cell 2004) 3 4 22 58
  4. Structural analysis of multifunctional peptide motifs in human bifunctional tRNA synthetase: identification of RNA-binding residues and functional implications for tandem repeats. (PMID: 11123902) Jeong EJ … Kim KS (Biochemistry 2000) 3 4 22 58
  5. The primary structure of human glutaminyl-tRNA synthetase. A highly conserved core, amino acid repeat regions, and homologies with translation elongation factors. (PMID: 1988429) Fett R … Knippers R (The Journal of biological chemistry 1991) 2 3 4 58

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