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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 5
- PARS 2 3 4
- 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
- Glutamate TRNA Ligase 2 3
- GLUPRORS 2 3
- EARS 2 3
- EPRS 3 4
- QARS 3 4
- QPRS 3 4
- Proliferation-Inducing Gene 32 Protein 3
External Ids for EPRS1 Gene
- HGNC: 3418
- Entrez Gene: 2058
- Ensembl: ENSG00000136628
- OMIM: 138295
- UniProtKB: P07814
Previous HGNC Symbols for EPRS1 Gene
- QPRS
- QARS
- EPRS
Summaries 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-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome. Among its related pathways are tRNA Aminoacylation and Parkinsons Disease Pathway. 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 EPRS1, 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 EPRS1 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).
Additional gene information for EPRS1 Gene
- HGNC(3418)
- Entrez Gene(2058)
- Ensembl(ENSG00000136628)
- OMIM(138295)
- UniProtKB(P07814)
- Open Targets Platform(ENSG00000136628)
- Search for EPRS1 at DataMed
- Search for EPRS1 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPRS1
Genomic Locations for EPRS1 Gene
Genomic Locations for EPRS1 Gene
- chr1:219,968,600-220,046,530
- (GRCh38/hg38)
- Size:
- 77,931 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:
-
- 1q41 by HGNC
- 1q41 by Entrez Gene
- 1q41 by Ensembl
EPRS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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 (RARS1), Asp (DARS1), Gln (QARS1), Ile (IARS1), Leu (LARS1), Lys (KARS1), Met (MARS1) the bifunctional ligase for Glu and Pro (EPRS1) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:24312579, PubMed:19131329, PubMed:19289464). Forms a linear complex that contains MARS1, EEF1E1, EPRS1 and AIMP2 that is at the core of the multisubunit complex (PubMed:26472928). Interacts with TARS3 (PubMed:24312579). Interacts with DUS2L (PubMed:15994936). Component of the GAIT complex which is composed of EPRS1, RPL13A and GAPDH. For human, the complex assembly seems to be a two-step process in which EPRS1 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};
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 EPRS1 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 EPRS1 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 EPRS1 with SLC27A1 (PubMed:28178239).
-
Ubiquitination at Lys229, Lys435, Lys472, Lys535, Lys782, Lys861, Lys943, Lys1132, Lys1143, Lys1375, Lys1435, and Lys1503
- NX_P07814 (NX_P07814-1)
- Modification sites at PhosphoSitePlus
Other Protein References for EPRS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-EPRS (aa 950-1000) polyclonal antibody
- Creative Biolabs Mouse Anti-EPRS Antibody scFv Fragment (Biocon EP1)
-
Custom Antibody ServicesOriGene Antibodies for EPRS1
- Novus Biologicals Antibodies for EPRS1
-
Abcam antibodies for EPRS1
- Invitrogen Antibodies for EPRS1 (AFLGC-EPRS1)
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for EPRS1
- Origene Custom Protein Services for EPRS1
- Novus Biologicals proteins for EPRS1
- antibodies-online: Show 6 available EPRS Proteins ranked by validation data
- Compare Top EPRS Proteins
-
Quality Products:
Assay Products
- antibodies-online: Show 4 available EPRS Elisa Kits ranked by validation data
- Compare Top EPRS Elisa Kits
-
Quality Products:
Domains & Families for EPRS1 Gene
Gene Families for EPRS1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for EPRS1 Gene
- InterPro:
-
- aa-tRNA-synt_IIb
- aa-tRNA-synth_II
- Glutathione-S-Trfase_C_sf
- GST_C
- Rossmann-like_a/b/a_fold
- aa-tRNA-synth_I_CS
- Glu/Gln-tRNA-synth
- Glu/Gln-tRNA-synth_Ib_cat-dom
- Anticodon-bd_dom_sf
- Anticodon-bd
- Glu-tRNA-synth_arc/euk
- Glu/Gln-tRNA-synth_Ib_codon-bd
- Pro-tRNA-ligase_IIa_arc-type
- Pro-tRNA_ligase_II_C
- Pro-tRNA_synth_II
- ProRS_core_arch_euk
- Rbsml_L25/Gln-tRNA_synth_N
- Ribosomal_L25/Gln-tRNA_synth
- S15_NS1_RNA-bd
- WHEP-TRS_dom
- Blocks:
-
- WHEP-TRS domain
- Anticodon binding domain
- Glutamyl-tRNA synthetase signature
- Prolyl-tRNA synthetase signature
- ProtoNet:
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
P07814UniProtKB/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.
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 EPRS1, 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 EPRS1 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| 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 | -- |
Phenotypes for EPRS1 Gene
- MGI mutant phenotypes for EPRS1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for EPRS1:
-
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Increased gamma-H2AX phosphorylation
- Decreased shRNA abundance
- Increased transferrin (TF) endocytosis
- Increased ionizing radiation sensitivity
- Decreased influenza A virus infection
- Decreased viability in pancreas lineage
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Increased HPV18 LCR reporter activity
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability after ionizing radiation
Animal Models for EPRS1 Gene
- MGI Knock Outs for EPRS1:
-
- Eprs Eprs<tm1b(EUCOMM)Hmgu>
Animal Model Products
-
Taconic Biosciences Mouse Models for EPRS1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EPRS1 - Select products 50% OFF >
- * EPRS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EPRS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPRS1
miRNA for EPRS1 Gene
- miRTarBase miRNAs that target EPRS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPRS1
- Browse OriGene Inhibitory RNA Products For EPRS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPRS1
Clone Products
- Applied Biological Materials (abm): Clones for EPRS1 - Select products 50% OFF >
- * EPRS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPRS1
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}.
| 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 |
- Cytosol (4)
| 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 | IBA,IDA | 10791971 |
Pathways & Interactions for EPRS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA Aminoacylation | ||
| 2 | Metabolism |
.40
|
|
| 3 | Viral mRNA Translation | ||
| 4 | tRNA processing |
.55
|
|
| 5 | Porphyrin and chlorophyll metabolism | ||
Pathways by source for EPRS1 Gene
2 BioSystems pathways for EPRS1 Gene
9 Reactome pathways for EPRS1 Gene
3 KEGG pathways for EPRS1 Gene
1 Qiagen pathway for EPRS1 Gene
- Parkinson's Disease Pathway
Interacting Proteins for EPRS1 Gene
Selected Interacting proteins:
P07814-SYEP_HUMAN
ENSP00000355890
for EPRS1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for EPRS1
| 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 | -- |
| GO:0006433 | prolyl-tRNA aminoacylation | IDA | 24100331 |
Drugs & Compounds for EPRS1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Glutamic acid | Approved | Nutra | Agonist, Full agonist, Target | 304 | ||
| Famotidine | Approved | Pharma | Histamine H2-receptor antagonist | 82 | ||
| Phosphoric acid | Approved | Pharma | 0 | |||
| Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
| 5'-O-(L-Cysteinylsulfamoyl)adenosine | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
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 :
-
- ENST00000366923 4862 nts (view in UCSC)
- ENST00000464052 770 nts (view in UCSC)
- ENST00000468487 458 nts (view in UCSC)
- ENST00000477030 1526 nts (view in UCSC)
- ENST00000485821 598 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EPRS1 - Select products 50% OFF >
- * EPRS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EPRS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPRS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPRS1
- Browse OriGene Inhibitory RNA Products For EPRS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPRS1
Clone Products
- Applied Biological Materials (abm): Clones for EPRS1 - Select products 50% OFF >
- * EPRS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPRS1
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.497788Evidence on tissue expression from TISSUES for EPRS1 Gene
- Nervous system(4.9)
- Liver(4.8)
- Intestine(4.8)
- Lung(4.8)
- Eye(4.7)
- Blood(4.6)
- Bone marrow(4.5)
- Pancreas(3.8)
- Heart(3.8)
- Kidney(3.6)
- Stomach(3.3)
- Muscle(3.2)
- Skin(3.1)
- Spleen(2.8)
- Adrenal gland(2.7)
- Lymph node(2.6)
- Thyroid gland(2.5)
- Gall bladder(2.3)
No Expression Related Data Available
Primer Products
-
OriGene qPCR primer pairs for EPRS1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | EPRS 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EPRS 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EPRS 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Eprs 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Eprs 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | EPRS 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | EPRS 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EPRS 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | eprs 30 |
|
||
| Str.1851 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.21378 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | eprs 30 31 |
|
OneToOne | |
| wufb06c03 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.14111 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | ears-1 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GUS1 30 31 |
|
OneToOne | |
| -- 33 |
|
|
|||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A00682g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR264W 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G26710 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.5281 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os01g0271200 30 |
|
||
| Os.6059 30 |
|
||||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.4312 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.3156 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11263 31 |
|
OneToOne | |
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC17A5.15c 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU08894 30 |
|
||
| Sea Vase (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
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 |
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
(101) MalaCards diseases for EPRS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukodystrophy, hypomyelinating, 15 |
|
|
| microcephaly-short stature-intellectual disability-facial dysmorphism syndrome |
|
|
| microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
|
|
| hypomyelinating leukodystrophy |
|
|
| leukodystrophy |
|
|
Search EPRS1 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for EPRS1
No data available for Genatlas for EPRS1 Gene
Publications for EPRS1 Gene
- 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
- A novel human tRNA-dihydrouridine synthase involved in pulmonary carcinogenesis. (PMID: 15994936) Kato T … Nakamura Y (Cancer research 2005) 3 4 23
- Noncanonical function of glutamyl-prolyl-tRNA synthetase: gene-specific silencing of translation. (PMID: 15479637) Sampath P … Fox PL (Cell 2004) 3 4 23
- 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
- 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
ExternalLinks
Products for EPRS1 Gene
- Custom Antibody ServicesOriGene Antibodies for EPRS1
- Browse OriGene ELISA Kits
- Custom Assay Services
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- Origene Custom Protein Services for EPRS1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPRS1
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Novus Biologicals proteins for EPRS1
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- Find your next knockout model in the Taconic Knockout Repository
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- Humanized Mice
- Invitrogen Antibodies for EPRS1 (AFLGC-EPRS1)
- VectorBuilder Custom and pre-made DNA vectors for EPRS1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for EPRS1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for EPRS1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for EPRS1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for EPRS1
- antibodies-online: Show 17 available EPRS Antibodies ranked by validation data
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- antibodies-online: Show 4 available EPRS Elisa Kits ranked by validation data
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- Quality Products:
- antibodies-online: Show 6 available EPRS Proteins ranked by validation data
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- Quality Products:
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPRS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPRS1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for EPRS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPRS1
Sources for EPRS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
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- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB