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EPRS Gene(Protein Coding)

Glutamyl-Prolyl-TRNA Synthetase

GCID:
GC01M219968
GIFtS:
62
Genes Participants
UDN Logo

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 2
  • Proline-TRNA Ligase 3
  • EC 6.1.1.15 61
  • EC 6.1.1.18 61
  • GLUPRORS 3
  • EC 6.1.1 61
  • 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 Aqueous Misdirection and Separation Anxiety Disorder. Among its related pathways are Porphyrin and chlorophyll metabolism and Chks in Checkpoint Regulation. GO annotations related to this gene include nucleotide binding and GTPase binding.

UniProtKB/Swiss-Prot for EPRS Gene

  • 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

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

Genomics for EPRS Gene

Products:

  1. Regulatory Element

Regulatory Elements for EPRS Gene

Enhancers for EPRS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G220114 1.3 ENCODE dbSUPER 16.6 -73.6 -73639 11.1 PKNOX1 FOXA2 CREB3L1 ARNT FEZF1 ZNF2 ZNF302 SP3 JUNB REST EPRS RAB3GAP2 ENSG00000272823 MIR194-1 RPS15AP12
GH01G220113 0.7 dbSUPER 16.9 -66.9 -66904 0.9 HDGF CTCF L3MBTL2 TRIM22 USF2 RAD21 CHAMP1 RAD51 ZNF316 KLF16 EPRS RPS15AP12 LOC105373475 MIR215
GH01G220089 1.1 ENCODE 6 -43.2 -43246 1.7 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 EPRS BPNT1 PIR35692
GH01G220092 1.1 ENCODE 5.9 -47.5 -47546 2.5 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 EPRS GC01M220094 IARS2
GH01G219958 0.9 ENCODE 6.6 +87.5 87489 2.1 PKNOX1 ZSCAN4 ZNF76 FEZF1 ZNF2 CHAMP1 ZNF366 ZSCAN5C ZNF391 ZNF362 EPRS SLC30A10 GC01P219890
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EPRS on UCSC Golden Path with GeneCards custom track

Promoters for EPRS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000020365 358 1801 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

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

Genomic Location for EPRS Gene

Chromosome:
1
Start:
219,968,600 bp from pter
End:
220,046,658 bp from pter
Size:
78,059 bases
Orientation:
Minus strand

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 Structure • Gene Density

RefSeq DNA sequence for EPRS Gene

Proteins for EPRS Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:
    • 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.
    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

Protein Expression for EPRS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for EPRS Gene

P07814:
  • EFLWQEGH
  • RFDDTNP
  • WELKGVP
  • RRDTGEK
  • DDTNPEKE
  • VDGWDDPR
  • KTEKEKFAG
  • LRAKIDM

Post-translational modifications for EPRS Gene

  • 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 eIF4G.
  • Ubiquitination at isoforms=229, Lys435, Lys472, Lys535, Lys782, Lys861, Lys943, Lys1132, Lys1143, Lys1375, isoforms=1435, and Lys1503
  • Modification sites at PhosphoSitePlus

Other Protein References for EPRS Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for EPRS Gene

Gene Families for EPRS Gene

HGNC:

Protein Domains for EPRS Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EPRS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P07814

UniProtKB/Swiss-Prot:

SYEP_HUMAN :
  • The WHEP-TRS domain is 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 domain is 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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for EPRS Gene

GENATLAS Biochemistry:
glutamyl-prolyl-tRNA synthetase
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 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.

Enzyme Numbers (IUBMB) 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 IEA,TAS --
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 tm1b(EUCOMM)Hmgu

Animal Model Products

  • Taconic Biosciences Mouse Models for EPRS

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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.

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

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:0016020 membrane IDA 19946888
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex IDA,IEA 10791971
GO:0030529 intracellular ribonucleoprotein complex IDA 15479637
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 IEA,IBA --
GO:0006433 prolyl-tRNA aminoacylation IBA --
genes like me logo Genes that share ontologies with EPRS: view

Drugs & Compounds for EPRS Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra Target 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 61
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
genes like me logo Genes that share compounds with EPRS: view

Transcripts for EPRS Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for EPRS Gene

(2) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(564) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EPRS Gene

Glutamyl-prolyl-tRNA synthetase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for EPRS Gene
mRNA expression by BioGPS for EPRS GenemRNA expression by GTEx 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, PaxDb, 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)
  • Liver(4.7)
  • Eye(4.6)
  • Bone marrow(4.2)
  • Heart(3.5)
  • Pancreas(3.5)
  • Kidney(3.2)
  • Blood(2.8)
  • Stomach(2.8)
  • Muscle(2.7)
  • Gall bladder(2)
  • Skin(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with EPRS: view

Primer Products

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 35
  • 99.6 (n)
dog
(Canis familiaris)
 Mammalia EPRS 34 35
  • 91.92 (n)
cow
(Bos Taurus)
 Mammalia EPRS 34 35
  • 90.49 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 90 (a)
 OneToMany
-- 35
  • 79 (a)
 OneToMany
-- 35
  • 70 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Eprs 34 16 35
  • 86.16 (n)
rat
(Rattus norvegicus)
 Mammalia Eprs 34
  • 85.1 (n)
oppossum
(Monodelphis domestica)
 Mammalia EPRS 35
  • 82 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves EPRS 35
  • 77 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia EPRS 35
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia eprs 34
  • 71.24 (n)
Str.1851 34
African clawed frog
(Xenopus laevis)
 Amphibia Xl.21378 34
zebrafish
(Danio rerio)
 Actinopterygii eprs 34 35
  • 68.23 (n)
wufb06c03 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.14111 34
fruit fly
(Drosophila melanogaster)
 Insecta Aats-glupro 36
  • 52 (a)
worm
(Caenorhabditis elegans)
 Secernentea prs-1 36
  • 53 (a)
ers-2 36
  • 49 (a)
ears-1 35
  • 43 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GUS1 34 35
  • 54.66 (n)
-- 37
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0A00682g 34
  • 54.61 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR264W 34
  • 52.55 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT5G26710 34
  • 52.18 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.5281 34
rice
(Oryza sativa)
 Liliopsida Os01g0271200 34
  • 53.75 (n)
Os.6059 34
barley
(Hordeum vulgare)
 Liliopsida Hv.4312 34
corn
(Zea mays)
 Liliopsida Zm.3156 34
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.11263 35
  • 55 (a)
 OneToOne
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC17A5.15c 34
  • 53.49 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU08894 34
  • 49.64 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.14752 34
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)

Paralogs for EPRS Gene

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

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 Sequence Context AA Info Type
rs1000005479 -- 219,984,604(+) TTTTG(A/G)TAGAG intron-variant
rs1000050882 -- 220,028,019(+) AAATG(C/T)TAATG intron-variant
rs1000165503 -- 220,035,214(+) GGTGT(G/T)ATCTT intron-variant
rs1000172801 -- 220,002,514(+) ATACC(A/G)CACCT intron-variant
rs1000210519 -- 219,990,985(+) CTGAT(A/C/G)TGGAT 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)

Relevant External Links for EPRS Gene

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

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

Disorders for EPRS Gene

MalaCards: The human disease database

(3) MalaCards diseases for EPRS Gene - From: DISEASES and GeneCards

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

Relevant External Links for EPRS

Genetic Association Database (GAD)
EPRS
Human Genome Epidemiology (HuGE) Navigator
EPRS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPRS
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 P.L. (Mol. Cell 2009) 3 4 22 64
  2. A novel human tRNA-dihydrouridine synthase involved in pulmonary carcinogenesis. (PMID: 15994936) Kato T. … Nakamura Y. (Cancer Res. 2005) 3 4 22 64
  3. Noncanonical function of glutamyl-prolyl-tRNA synthetase: gene- specific silencing of translation. (PMID: 15479637) Sampath P. … Fox P.L. (Cell 2004) 3 4 22 64
  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 E.-J. … Kim K.-S. (Biochemistry 2000) 3 4 22 64
  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. (J. Biol. Chem. 1991) 2 3 4 64

Products for EPRS Gene

Sources for EPRS Gene

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