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 hav... See more...

Aliases for EPRS1 Gene

Aliases for EPRS1 Gene

  • Glutamyl-Prolyl-TRNA Synthetase 1 2 3
  • Bifunctional Glutamate/Proline--TRNA Ligase 3 4
  • Cell Proliferation-Inducing Gene 32 Protein 3 4
  • Bifunctional Aminoacyl-TRNA Synthetase 3 4
  • Glutamatyl-Prolyl-TRNA Synthetase 3 4
  • Glutamyl-Prolyl-TRNA Synthetase 2 5
  • Glutamate TRNA Ligase 2 3
  • EPRS 3 5
  • QARS 3 4
  • QPRS 3 4
  • PARS 3 4
  • 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
  • EC 6.1.1.15 52
  • EC 6.1.1.18 52
  • GLUPRORS 3
  • EC 6.1.1 52
  • HLD15 3
  • PIG32 3
  • EARS 3
  • GLNS 4

External Ids for EPRS1 Gene

Previous HGNC Symbols for EPRS1 Gene

  • QPRS
  • QARS
  • EPRS

Summaries for EPRS1 Gene

Entrez Gene Summary for EPRS1 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 EPRS1 Gene

EPRS1 (Glutamyl-Prolyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with EPRS1 include Leukodystrophy, Hypomyelinating, 15 and Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy. Among its related pathways are Gene Expression and tRNA Aminoacylation. An important paralog of this gene is QARS1.

UniProtKB/Swiss-Prot Summary for EPRS1 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 EPRS1 Gene

Additional gene information for EPRS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPRS1 Gene

Genomics for EPRS1 Gene

GeneHancer (GH) Regulatory Elements for EPRS1 Gene

Promoters and enhancers for EPRS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPRS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPRS1

Genomic Locations for EPRS1 Gene

Genomic Locations for EPRS1 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)
Size:
78,059 bases
Orientation:
Minus strand

Genomic View for EPRS1 Gene

Genes around EPRS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPRS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPRS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPRS1 Gene

Proteins for EPRS1 Gene

  • Protein details for EPRS1 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 EPRS1 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 (MSC), that is composed of the tRNA ligases for Arg (RARS), Asp (DARS), Gln (QARS), Ile (IARS), Leu (LARS), Lys (KARS1), Met (MARS) the bifunctional ligase for Glu and Pro (EPRS) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:24312579, 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 TARSL2 (PubMed:24312579). 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA30354.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305}; Sequence=CAA38224.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EPRS1 Gene

neXtProt entry for EPRS1 Gene

Selected DME Specific Peptides for EPRS1 Gene

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

Post-translational modifications for EPRS1 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 Lys229, Lys435, Lys472, Lys535, Lys782, Lys861, Lys943, Lys1132, Lys1143, Lys1375, Lys1435, and Lys1503
  • Modification sites at PhosphoSitePlus

Other Protein References for EPRS1 Gene

Domains & Families for EPRS1 Gene

Gene Families for EPRS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EPRS1 Gene

GenScript: Design optimal peptide antigens:
  • EPRS protein (Q3KQZ8_HUMAN)
  • Cell proliferation-inducing gene 32 protein (SYEP_HUMAN)

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 EPRS1: view

Function for EPRS1 Gene

Molecular function for EPRS1 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:
Reaction=ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu); Xref=Rhea:RHEA:23540, Rhea:RHEA-COMP:9663, Rhea:RHEA-COMP:9680, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:78442, ChEBI:CHEBI:78520, ChEBI:CHEBI:456215; EC=6.1.1.17;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro); Xref=Rhea:RHEA:14305, Rhea:RHEA-COMP:9700, Rhea:RHEA-COMP:9702, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:60039, ChEBI:CHEBI:78442, ChEBI:CHEBI:78532, ChEBI:CHEBI:456215; EC=6.1.1.15; Evidence={ECO:0000269 PubMed:23263184, ECO:0000269 PubMed:24100331};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by halofuginone.

Enzyme Numbers (IUBMB) for EPRS1 Gene

Phenotypes From GWAS Catalog for EPRS1 Gene

Gene Ontology (GO) - Molecular Function for EPRS1 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 EPRS1: view
genes like me logo Genes that share phenotypes with EPRS1: view

Human Phenotype Ontology for EPRS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPRS1 Gene

MGI Knock Outs for EPRS1:
  • Eprs Eprs<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for EPRS1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for EPRS1 Gene

Localization for EPRS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPRS1 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 EPRS1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EPRS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 10791971
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA,ISS --
GO:0016020 membrane IEA,HDA 19946888
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex IDA,IBA 10791971
genes like me logo Genes that share ontologies with EPRS1: view

Pathways & Interactions for EPRS1 Gene

genes like me logo Genes that share pathways with EPRS1: view

Pathways by source for EPRS1 Gene

1 Qiagen pathway for EPRS1 Gene
  • Parkinson's Disease Pathway

SIGNOR curated interactions for EPRS1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for EPRS1 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 TAS,IEA --
GO:0006424 glutamyl-tRNA aminoacylation IEA --
GO:0006433 prolyl-tRNA aminoacylation IDA 24100331
genes like me logo Genes that share ontologies with EPRS1: view

Drugs & Compounds for EPRS1 Gene

(23) Drugs for EPRS1 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 289
Famotidine Approved Pharma Histamine H2-receptor antagonist 73
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
5'-O-(L-Cysteinylsulfamoyl)adenosine Experimental Pharma Target 0

(24) Additional Compounds for EPRS1 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 EPRS1: view

Transcripts for EPRS1 Gene

mRNA/cDNA for EPRS1 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPRS1 Gene

No ASD Table

Relevant External Links for EPRS1 Gene

GeneLoc Exon Structure for
EPRS1

Expression for EPRS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPRS1

SOURCE GeneReport for Unigene cluster for EPRS1 Gene:

Hs.497788

Evidence on tissue expression from TISSUES for EPRS1 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)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPRS1 Gene

Orthologs for EPRS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EPRS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPRS 31 30
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EPRS 31 30
  • 91.92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPRS 31 30
  • 90.49 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
-- 31
  • 70 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Eprs 17 31 30
  • 86.16 (n)
rat
(Rattus norvegicus)
Mammalia Eprs 30
  • 85.1 (n)
oppossum
(Monodelphis domestica)
Mammalia EPRS 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPRS 31
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPRS 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eprs 30
  • 71.24 (n)
Str.1851 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.21378 30
zebrafish
(Danio rerio)
Actinopterygii eprs 31 30
  • 68.23 (n)
OneToOne
wufb06c03 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14111 30
worm
(Caenorhabditis elegans)
Secernentea ears-1 31
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUS1 31 30
  • 54.66 (n)
OneToOne
-- 33
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00682g 30
  • 54.61 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR264W 30
  • 52.55 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G26710 30
  • 52.18 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5281 30
rice
(Oryza sativa)
Liliopsida Os01g0271200 30
  • 53.75 (n)
Os.6059 30
corn
(Zea mays)
Liliopsida Zm.3156 30
barley
(Hordeum vulgare)
Liliopsida Hv.4312 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11263 31
  • 55 (a)
OneToOne
Cin.14752 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC17A5.15c 30
  • 53.49 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08894 30
  • 49.64 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14752 30
Species where no ortholog for EPRS1 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)
  • fruit fly (Drosophila melanogaster)
  • 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 EPRS1 Gene

ENSEMBL:
Gene Tree for EPRS1 (if available)
TreeFam:
Gene Tree for EPRS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPRS1: view image

Paralogs for EPRS1 Gene

Paralogs for EPRS1 Gene

genes like me logo Genes that share paralogs with EPRS1: view

Variants for EPRS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPRS1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
715899 Benign: not provided 220,018,462(-) G/A MISSENSE_VARIANT
716061 Benign: not provided 219,979,542(-) G/A MISSENSE_VARIANT
728847 Likely Benign: not provided 219,988,790(-) A/T MISSENSE_VARIANT
789955 Benign: not provided 219,988,587(-) A/G INTRON_VARIANT
789956 Benign: not provided 220,024,321(-) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for EPRS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for EPRS1 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 EPRS1 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 EPRS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPRS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPRS1 Gene

Disorders for EPRS1 Gene

MalaCards: The human disease database

(83) MalaCards diseases for EPRS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

SYEP_HUMAN
  • Leukodystrophy, hypomyelinating, 15 (HLD15) [MIM:617951]: An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with thinning of the corpus callosum. Clinical features include motor and cognitive impairment appearing in the first or second decade of life, dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. {ECO:0000269 PubMed:29576217}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with EPRS1: view

No data available for Genatlas for EPRS1 Gene

Publications for EPRS1 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 23 54
  2. A novel human tRNA-dihydrouridine synthase involved in pulmonary carcinogenesis. (PMID: 15994936) Kato T … Nakamura Y (Cancer research 2005) 3 4 23 54
  3. Noncanonical function of glutamyl-prolyl-tRNA synthetase: gene-specific silencing of translation. (PMID: 15479637) Sampath P … Fox PL (Cell 2004) 3 4 23 54
  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 23 54
  5. The human EPRS locus (formerly the QARS locus): a gene encoding a class I and a class II aminoacyl-tRNA synthetase. (PMID: 8188258) Kaiser E … Knippers R (Genomics 1994) 2 3 23 54

Products for EPRS1 Gene

Sources for EPRS1 Gene