EPRS1 (glutamyl-prolyl-tRNA synthetase 1) - Rat Genome Database

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Gene: EPRS1 (glutamyl-prolyl-tRNA synthetase 1) Homo sapiens
Analyze
Symbol: EPRS1
Name: glutamyl-prolyl-tRNA synthetase 1
RGD ID: 1322145
HGNC Page HGNC
Description: Exhibits several functions, including RNA stem-loop binding activity; proline-tRNA ligase activity; and protein homodimerization activity. Involved in several processes, including cellular response to interferon-gamma; prolyl-tRNA aminoacylation; and regulation of long-chain fatty acid import into cell. Localizes to several cellular components, including GAIT complex; aminoacyl-tRNA synthetase multienzyme complex; and cytosol. Implicated in hypomyelinating leukodystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bifunctional aminoacyl-tRNA synthetase; bifunctional glutamate/proline--tRNA ligase; cell proliferation-inducing gene 32 protein; DKFZp313B047; EARS; EPRS; GLUPRORS; glutamate tRNA ligase; glutamatyl-prolyl-tRNA synthetase; glutaminyl-tRNA synthetase; glutamyl-prolyl-tRNA synthetase; HLD15; PARS; PIG32; proliferation-inducing gene 32 protein; proliferation-inducing protein 32; proline tRNA ligase; proline-tRNA ligase; prolyl-tRNA synthetase; QARS; QPRS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1219,968,600 - 220,046,530 (-)EnsemblGRCh38hg38GRCh38
GRCh381219,968,600 - 220,046,505 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371220,141,942 - 220,219,847 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361218,208,565 - 218,286,623 (-)NCBINCBI36hg18NCBI36
Build 341216,530,337 - 216,596,723NCBI
Celera1193,361,173 - 193,439,298 (-)NCBI
Cytogenetic Map1q41NCBI
HuRef1190,816,669 - 190,894,723 (-)NCBIHuRef
CHM1_11221,414,886 - 221,492,894 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
(S)-colchicine  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
5-fluorouracil  (EXP)
acetamide  (ISO)
aflatoxin B2  (EXP)
aldehydo-D-glucosamine  (ISO)
Aroclor 1254  (ISO)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-glucosamine  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
chloroacetaldehyde  (EXP)
chloropicrin  (EXP)
chloroprene  (ISO)
chromium(6+)  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
dioxygen  (EXP)
diuron  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenofibrate  (EXP,ISO)
flutamide  (ISO)
folic acid  (ISO)
geldanamycin  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
hydrogen sulfide  (ISO)
ibuprofen  (EXP)
L-ascorbic acid  (EXP)
lead diacetate  (ISO)
levonorgestrel  (EXP)
menadione  (EXP)
metformin  (ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
p-toluidine  (ISO)
perfluorononanoic acid  (EXP)
phenobarbital  (ISO)
rac-lactic acid  (EXP)
silicon dioxide  (EXP)
Soman  (ISO)
sunitinib  (EXP)
testosterone enanthate  (EXP)
testosterone undecanoate  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
thimerosal  (EXP)
titanium dioxide  (EXP)
topotecan  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vincaleukoblastine  (ISO)
vinclozolin  (ISO)
vincristine  (ISO)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1556743   PMID:1651330   PMID:1756734   PMID:1988429   PMID:2227938   PMID:3290852   PMID:8052601   PMID:8078941   PMID:8188258   PMID:8449960   PMID:8889549   PMID:9278442  
PMID:9556618   PMID:9878398   PMID:10791971   PMID:10913161   PMID:11123902   PMID:11142386   PMID:11714285   PMID:11829477   PMID:12477932   PMID:14744259   PMID:15302935   PMID:15479637  
PMID:15994936   PMID:16055448   PMID:16055720   PMID:16169070   PMID:16964243   PMID:17353931   PMID:17400507   PMID:18374644   PMID:18457437   PMID:19131329   PMID:19135240   PMID:19289464  
PMID:19490893   PMID:19647514   PMID:19738201   PMID:19946888   PMID:20195357   PMID:20348541   PMID:20379614   PMID:21081503   PMID:21081666   PMID:21145461   PMID:21220307   PMID:21319273  
PMID:21873635   PMID:21900206   PMID:22190034   PMID:22268729   PMID:22386318   PMID:22623428   PMID:22658674   PMID:22751010   PMID:22863883   PMID:22939629   PMID:22963397   PMID:23071094  
PMID:23125841   PMID:23263184   PMID:23443559   PMID:23956138   PMID:24100331   PMID:24312579   PMID:24332808   PMID:24337748   PMID:24457600   PMID:24606901   PMID:24639526   PMID:24711643  
PMID:25010285   PMID:25147182   PMID:25437307   PMID:25515538   PMID:25631074   PMID:25756610   PMID:25796446   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26472760   PMID:26472928  
PMID:26496610   PMID:26508657   PMID:26618866   PMID:26641092   PMID:26725010   PMID:26816005   PMID:26831064   PMID:26885983   PMID:26950368   PMID:27025967   PMID:27248496   PMID:27342126  
PMID:27377895   PMID:27462432   PMID:27503909   PMID:27591049   PMID:27612429   PMID:27684187   PMID:28178239   PMID:28302793   PMID:28319085   PMID:28380382   PMID:28431233   PMID:28443643  
PMID:28514442   PMID:28515276   PMID:28685749   PMID:28700943   PMID:28902428   PMID:28977666   PMID:29128334   PMID:29212245   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29467282  
PMID:29507755   PMID:29509190   PMID:29511261   PMID:29511296   PMID:29564676   PMID:29568061   PMID:29576217   PMID:29643180   PMID:29676528   PMID:29704455   PMID:29777862   PMID:29845934  
PMID:29991511   PMID:30021884   PMID:30258100   PMID:30352685   PMID:30442662   PMID:30455355   PMID:30463901   PMID:30575818   PMID:30581152   PMID:30804502   PMID:30809309   PMID:30890647  
PMID:30948266   PMID:31048545   PMID:31059266   PMID:31073040   PMID:31091453   PMID:31239290   PMID:31300519   PMID:31478661   PMID:31536960   PMID:31586073   PMID:31685992   PMID:31792442  
PMID:31995728   PMID:32041737   PMID:32129710   PMID:32529326   PMID:32786267   PMID:33005030   PMID:33144569  


Genomics

Comparative Map Data
EPRS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1219,968,600 - 220,046,530 (-)EnsemblGRCh38hg38GRCh38
GRCh381219,968,600 - 220,046,505 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371220,141,942 - 220,219,847 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361218,208,565 - 218,286,623 (-)NCBINCBI36hg18NCBI36
Build 341216,530,337 - 216,596,723NCBI
Celera1193,361,173 - 193,439,298 (-)NCBI
Cytogenetic Map1q41NCBI
HuRef1190,816,669 - 190,894,723 (-)NCBIHuRef
CHM1_11221,414,886 - 221,492,894 (-)NCBICHM1_1
Eprs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391185,093,614 - 185,160,557 (+)NCBIGRCm39mm39
GRCm39 Ensembl1185,095,241 - 185,160,557 (+)Ensembl
GRCm381185,361,417 - 185,428,360 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1185,363,044 - 185,428,360 (+)EnsemblGRCm38mm10GRCm38
MGSCv371187,186,974 - 187,252,234 (+)NCBIGRCm37mm9NCBIm37
MGSCv361187,063,883 - 187,129,143 (+)NCBImm8
MGSCv361186,479,177 - 186,544,604 (+)NCBImm8
Celera1192,317,193 - 192,381,950 (+)NCBICelera
Cytogenetic Map1H5NCBI
Eprs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21396,901,548 - 96,971,966 (+)NCBI
Rnor_6.0 Ensembl13103,300,932 - 103,371,577 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.013103,300,911 - 103,371,651 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.013107,973,665 - 108,044,298 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.413101,375,656 - 101,448,175 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.113101,564,698 - 101,637,217 (+)NCBI
Celera1396,415,061 - 96,484,921 (+)NCBICelera
Cytogenetic Map13q26NCBI
Eprs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555203,550,558 - 3,606,697 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555203,550,558 - 3,606,015 (+)NCBIChiLan1.0ChiLan1.0
EPRS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11200,575,257 - 200,655,958 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1200,575,259 - 200,656,197 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01195,537,319 - 195,618,257 (-)NCBIMhudiblu_PPA_v0panPan3
EPRS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13814,754,628 - 14,823,626 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3814,754,632 - 14,823,621 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3814,797,419 - 14,866,312 (-)NCBI
ROS_Cfam_1.03814,791,854 - 14,860,285 (-)NCBI
UMICH_Zoey_3.13814,800,874 - 14,869,666 (-)NCBI
UNSW_CanFamBas_1.03815,145,457 - 15,214,419 (-)NCBI
UU_Cfam_GSD_1.03815,435,096 - 15,504,056 (-)NCBI
Eprs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934456,897,415 - 56,971,602 (+)NCBI
SpeTri2.0NW_0049366502,145,614 - 2,219,812 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPRS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl109,579,301 - 9,648,414 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1109,579,301 - 9,648,416 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21011,663,038 - 11,730,358 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EPRS1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1259,534,747 - 9,618,119 (+)NCBI
ChlSab1.1 Ensembl259,534,114 - 9,618,141 (+)Ensembl
Eprs1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248353,635,829 - 3,695,875 (-)NCBI

Position Markers
HUM000S513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,141,960 - 220,142,168UniSTSGRCh37
Build 361218,208,583 - 218,208,791RGDNCBI36
Celera1193,361,191 - 193,361,399RGD
Cytogenetic Map1q41UniSTS
HuRef1190,816,687 - 190,816,895UniSTS
TNG Radiation Hybrid Map1109188.0UniSTS
Stanford-G3 RH Map18629.0UniSTS
NCBI RH Map11899.1UniSTS
GeneMap99-G3 RH Map18585.0UniSTS
AL033652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,172,826 - 220,172,989UniSTSGRCh37
Build 361218,239,449 - 218,239,612RGDNCBI36
Celera1193,392,046 - 193,392,209RGD
Cytogenetic Map1q41UniSTS
HuRef1190,847,589 - 190,847,752UniSTS
SHGC-79732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,191,287 - 220,191,572UniSTSGRCh37
Build 361218,257,910 - 218,258,195RGDNCBI36
Celera1193,410,604 - 193,410,889RGD
Cytogenetic Map1q41UniSTS
HuRef1190,866,141 - 190,866,426UniSTS
TNG Radiation Hybrid Map1109235.0UniSTS
SHGC-142608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,146,237 - 220,146,521UniSTSGRCh37
Build 361218,212,860 - 218,213,144RGDNCBI36
Celera1193,365,469 - 193,365,753RGD
Cytogenetic Map1q41UniSTS
HuRef1190,821,001 - 190,821,285UniSTS
TNG Radiation Hybrid Map1109201.0UniSTS
G34844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,142,128 - 220,142,259UniSTSGRCh37
Build 361218,208,751 - 218,208,882RGDNCBI36
Celera1193,361,359 - 193,361,490RGD
Cytogenetic Map1q41UniSTS
HuRef1190,816,855 - 190,816,986UniSTS
SHGC-11953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,142,011 - 220,142,133UniSTSGRCh37
Build 361218,208,634 - 218,208,756RGDNCBI36
Celera1193,361,242 - 193,361,364RGD
Cytogenetic Map1q41UniSTS
HuRef1190,816,738 - 190,816,860UniSTS
TNG Radiation Hybrid Map1109192.0UniSTS
Stanford-G3 RH Map18633.0UniSTS
NCBI RH Map11899.1UniSTS
GeneMap99-G3 RH Map18589.0UniSTS
G34812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,142,018 - 220,142,133UniSTSGRCh37
Build 361218,208,641 - 218,208,756RGDNCBI36
Celera1193,361,249 - 193,361,364RGD
Cytogenetic Map1q41UniSTS
HuRef1190,816,745 - 190,816,860UniSTS
RH70835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,142,059 - 220,142,199UniSTSGRCh37
Build 361218,208,682 - 218,208,822RGDNCBI36
Celera1193,361,290 - 193,361,430RGD
Cytogenetic Map1q41UniSTS
HuRef1190,816,786 - 190,816,926UniSTS
GeneMap99-GB4 RH Map1707.33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:659
Count of miRNA genes:457
Interacting mature miRNAs:502
Transcripts:ENST00000366923, ENST00000464052, ENST00000468487, ENST00000477030, ENST00000485821, ENST00000609181
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2423 2329 1583 494 1478 336 4355 2041 3402 381 1443 1602 171 1203 2788 4
Low 14 662 143 130 473 129 2 156 332 38 16 11 4 1 1 2 2
Below cutoff 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA196283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY493416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ080075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N85252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000366923   ⟹   ENSP00000355890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1219,968,600 - 220,046,505 (-)Ensembl
RefSeq Acc Id: ENST00000464052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1219,997,176 - 220,007,365 (-)Ensembl
RefSeq Acc Id: ENST00000468487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1219,968,689 - 219,969,247 (-)Ensembl
RefSeq Acc Id: ENST00000477030   ⟹   ENSP00000477493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,001,201 - 220,046,530 (-)Ensembl
RefSeq Acc Id: ENST00000485821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1219,982,510 - 219,984,258 (-)Ensembl
RefSeq Acc Id: ENST00000609181   ⟹   ENSP00000477245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1219,987,296 - 220,046,451 (-)Ensembl
RefSeq Acc Id: NM_004446   ⟹   NP_004437
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381219,968,600 - 220,046,505 (-)NCBI
GRCh371220,141,940 - 220,220,000 (-)NCBI
Build 361218,208,565 - 218,286,623 (-)NCBI Archive
HuRef1190,816,669 - 190,894,723 (-)ENTREZGENE
CHM1_11221,414,886 - 221,492,894 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000614   ⟹   XP_016856103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381219,968,600 - 220,018,144 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004437   ⟸   NM_004446
- UniProtKB: P07814 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856103   ⟸   XM_017000614
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000477493   ⟸   ENST00000477030
RefSeq Acc Id: ENSP00000477245   ⟸   ENST00000609181
RefSeq Acc Id: ENSP00000355890   ⟸   ENST00000366923
Protein Domains
GST_C   WHEP-TRS

Promoters
RGD ID:6785541
Promoter ID:HG_KWN:7385
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004446,   OTTHUMT00000091134,   UC001HLZ.1,   UC009XDT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361218,286,321 - 218,286,821 (-)MPROMDB
RGD ID:6859020
Promoter ID:EPDNEW_H2674
Type:initiation region
Name:EPRS_1
Description:glutamyl-prolyl-tRNA synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,046,459 - 220,046,519EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004446.3(EPRS1):c.3377T>C (p.Met1126Thr) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV000626410] Chr1:219981454 [GRCh38]
Chr1:220154796 [GRCh37]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000050298] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 copy number gain See cases [RCV000051874] Chr1:215447347..221971832 [GRCh38]
Chr1:215620690..222145174 [GRCh37]
Chr1:213687313..220211797 [NCBI36]
Chr1:1q41
pathogenic
NM_004446.2(EPRS):c.163C>T (p.Leu55Phe) single nucleotide variant Malignant melanoma [RCV000060087] Chr1:220034982 [GRCh38]
Chr1:220208324 [GRCh37]
Chr1:218274947 [NCBI36]
Chr1:1q41
not provided
NM_004446.2(EPRS):c.2746C>T (p.Arg916Trp) single nucleotide variant Malignant melanoma [RCV000064539] Chr1:219988619 [GRCh38]
Chr1:220161961 [GRCh37]
Chr1:218228584 [NCBI36]
Chr1:1q41
not provided
NM_004446.3(EPRS1):c.3782T>C (p.Ile1261Thr) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV001333246] Chr1:219979545 [GRCh38]
Chr1:220152887 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000148255] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
Single allele deletion Loeys-Dietz syndrome 4 [RCV000210452] Chr1:215588712..222145072 [GRCh37]
Chr1:1q41
pathogenic
Single allele deletion Loeys-Dietz syndrome 4 [RCV000210464] Chr1:216672181..220202575 [GRCh37]
Chr1:1q41
pathogenic
NM_004446.3(EPRS1):c.3478C>T (p.Pro1160Ser) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV000626408] Chr1:219980833 [GRCh38]
Chr1:220154175 [GRCh37]
Chr1:1q41
pathogenic
NM_004446.3(EPRS1):c.3344C>G (p.Pro1115Arg) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV000626406] Chr1:219982801 [GRCh38]
Chr1:220156143 [GRCh37]
Chr1:1q41
pathogenic
Single allele deletion Usher syndrome [RCV000505151] Chr1:216066818..222607612 [GRCh38]
Chr1:216240159..222780953 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_004446.3(EPRS1):c.3667del (p.Thr1223fs) deletion Leukodystrophy, hypomyelinating, 15 [RCV000626409] Chr1:219980129 [GRCh38]
Chr1:220153471 [GRCh37]
Chr1:1q41
pathogenic
NM_004446.3(EPRS1):c.1015C>T (p.Arg339Ter) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV000626407] Chr1:220022447 [GRCh38]
Chr1:220195789 [GRCh37]
Chr1:1q41
pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q41(chr1:219617666-220147653)x3 copy number gain not provided [RCV000684702] Chr1:219617666..220147653 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:219379258-222049547)x3 copy number gain not provided [RCV000848714] Chr1:219379258..222049547 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
NM_004446.3(EPRS1):c.2775+3T>C single nucleotide variant not provided [RCV000972670] Chr1:219988587 [GRCh38]
Chr1:220161929 [GRCh37]
Chr1:1q41
benign
NM_004446.3(EPRS1):c.2575T>A (p.Ser859Thr) single nucleotide variant not provided [RCV000903395] Chr1:219988790 [GRCh38]
Chr1:220162132 [GRCh37]
Chr1:1q41
likely benign
NM_004446.3(EPRS1):c.3148C>T (p.Arg1050Cys) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV000984871] Chr1:219983341 [GRCh38]
Chr1:220156683 [GRCh37]
Chr1:1q41
uncertain significance
NM_004446.3(EPRS1):c.3344C>T (p.Pro1115Leu) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV000984872] Chr1:219982801 [GRCh38]
Chr1:220156143 [GRCh37]
Chr1:1q41
uncertain significance
NM_004446.3(EPRS1):c.2513G>A (p.Arg838His) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV000984958] Chr1:219997011 [GRCh38]
Chr1:220170353 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:219959610-220609144)x3 copy number gain not provided [RCV001005177] Chr1:219959610..220609144 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_004446.3(EPRS1):c.886G>C (p.Ala296Pro) single nucleotide variant not provided [RCV000972671] Chr1:220024321 [GRCh38]
Chr1:220197663 [GRCh37]
Chr1:1q41
benign
NM_004446.3(EPRS1):c.1481C>T (p.Ala494Val) single nucleotide variant not provided [RCV000888445] Chr1:220018462 [GRCh38]
Chr1:220191804 [GRCh37]
Chr1:1q41
benign
NM_004446.3(EPRS1):c.3785C>T (p.Pro1262Leu) single nucleotide variant not provided [RCV000888635] Chr1:219979542 [GRCh38]
Chr1:220152884 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43
pathogenic
GRCh37/hg19 1q41(chr1:219936892-220199101)x3 copy number gain not provided [RCV001005176] Chr1:219936892..220199101 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1 copy number loss not provided [RCV001005174] Chr1:219734913..224104993 [GRCh37]
Chr1:1q41-42.11
pathogenic
NM_004446.3(EPRS1):c.4309C>G (p.Leu1437Val) single nucleotide variant not provided [RCV001093208] Chr1:219972083 [GRCh38]
Chr1:220145425 [GRCh37]
Chr1:1q41
uncertain significance
NM_004446.3(EPRS1):c.1043A>G (p.Asn348Ser) single nucleotide variant not provided [RCV001093209] Chr1:220022419 [GRCh38]
Chr1:220195761 [GRCh37]
Chr1:1q41
uncertain significance
NM_004446.3(EPRS1):c.3972T>G (p.Ile1324Met) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV001329255] Chr1:219978657 [GRCh38]
Chr1:220151999 [GRCh37]
Chr1:1q41
uncertain significance
NM_004446.3(EPRS1):c.2372A>G (p.Tyr791Cys) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV001329251] Chr1:219997152 [GRCh38]
Chr1:220170494 [GRCh37]
Chr1:1q41
uncertain significance
NM_004446.3(EPRS1):c.2702C>T (p.Ala901Val) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV001329252] Chr1:219988663 [GRCh38]
Chr1:220162005 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_004446.3(EPRS1):c.3215G>A (p.Gly1072Asp) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV001329254] Chr1:219983274 [GRCh38]
Chr1:220156616 [GRCh37]
Chr1:1q41
uncertain significance
NM_004446.3(EPRS1):c.4244+3A>C single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV001329256] Chr1:219973235 [GRCh38]
Chr1:220146577 [GRCh37]
Chr1:1q41
uncertain significance
NM_004446.3(EPRS1):c.2789T>C (p.Ile930Thr) single nucleotide variant Leukodystrophy, hypomyelinating, 15 [RCV001329253] Chr1:219987391 [GRCh38]
Chr1:220160733 [GRCh37]
Chr1:1q41
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3418 AgrOrtholog
COSMIC EPRS1 COSMIC
Ensembl Genes ENSG00000136628 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000355890 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477245 UniProtKB/TrEMBL
  ENSP00000477493 UniProtKB/TrEMBL
Ensembl Transcript ENST00000366923 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000477030 UniProtKB/TrEMBL
  ENST00000609181 UniProtKB/TrEMBL
Gene3D-CATH 2.40.240.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.110.30 UniProtKB/Swiss-Prot
  3.40.50.620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.800 UniProtKB/Swiss-Prot
GTEx ENSG00000136628 GTEx
HGNC ID HGNC:3418 ENTREZGENE
Human Proteome Map EPRS1 Human Proteome Map
InterPro aa-tRNA-synt_IIb UniProtKB/Swiss-Prot
  aa-tRNA-synth_I_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  aa-tRNA-synth_II UniProtKB/Swiss-Prot
  Anticodon-bd UniProtKB/Swiss-Prot
  Anticodon-bd_dom_sf UniProtKB/Swiss-Prot
  Glu-tRNA-synth_arc/euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glu/Gln-tRNA-synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glu/Gln-tRNA-synth_Ib_cat-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glu/Gln-tRNA-synth_Ib_codon-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione-S-Trfase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GST_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pro-tRNA-ligase_IIa_arc-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pro-tRNA_ligase_II_C UniProtKB/Swiss-Prot
  Pro-tRNA_synth_II UniProtKB/Swiss-Prot
  ProRS_core_arch_euk UniProtKB/Swiss-Prot
  Rbsml_L25/Gln-tRNA_synth_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L25/Gln-tRNA_synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S15_NS1_RNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WHEP-TRS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2058 UniProtKB/Swiss-Prot
NCBI Gene 2058 ENTREZGENE
OMIM 138295 OMIM
  617951 OMIM
PANTHER PTHR43382 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GST_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HGTP_anticodon UniProtKB/Swiss-Prot
  ProRS-C_1 UniProtKB/Swiss-Prot
  tRNA-synt_1c UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA-synt_1c_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA-synt_2b UniProtKB/Swiss-Prot
  WHEP-TRS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27837 PharmGKB
PRINTS TRNASYNTHGLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRNA_LIGASE_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AA_TRNA_LIGASE_II UniProtKB/Swiss-Prot
  WHEP_TRS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WHEP_TRS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ProRS-C_1 UniProtKB/Swiss-Prot
  WHEP-TRS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47060 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47616 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50715 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF64586 UniProtKB/Swiss-Prot
TIGRFAMs gltX_arch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  proS_fam_I UniProtKB/Swiss-Prot
UniProt P07814 ENTREZGENE, UniProtKB/Swiss-Prot
  V9GYZ6_HUMAN UniProtKB/TrEMBL
  V9GZ76_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0AVA9 UniProtKB/Swiss-Prot
  B9EGH3 UniProtKB/Swiss-Prot
  Q05BP6 UniProtKB/Swiss-Prot
  Q05DF8 UniProtKB/Swiss-Prot
  Q5DSM1 UniProtKB/Swiss-Prot
  Q5H9S5 UniProtKB/Swiss-Prot
  Q6PD57 UniProtKB/Swiss-Prot
  Q86X73 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-08-20 EPRS1  glutamyl-prolyl-tRNA synthetase 1  EPRS  glutamyl-prolyl-tRNA synthetase  Symbol and/or name change 5135510 APPROVED