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EPRS1 (glutamyl-prolyl-tRNA synthetase 1)
Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2058
Gene nameGene Name - the full gene name approved by the HGNC.
Glutamyl-prolyl-tRNA synthetase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EPRS1
SynonymsGene synonyms aliases
EARS, EPRS, GLUPRORS, HLD15, PARS, PIG32, QARS, QPRS
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q41
SummarySummary of gene provided in NCBI Entrez 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
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs763737931 G>A Pathogenic Stop gained, coding sequence variant, genic upstream transcript variant
rs898824971 G>A Pathogenic Coding sequence variant, missense variant
rs1288116010 G>A,C Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs1474000585 A>G Pathogenic Coding sequence variant, missense variant
rs1553318956 T>- Pathogenic Coding sequence variant, frameshift variant
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0004818 Function Glutamate-tRNA ligase activity TAS
GO:0004827 Function Proline-tRNA ligase activity IBA 21873635
GO:0004827 Function Proline-tRNA ligase activity IDA 24100331
GO:0004827 Function Proline-tRNA ligase activity TAS
GO:0005515 Function Protein binding IPI 9556618, 10913161, 11142386, 21220307, 22386318, 24100331, 24312579, 24606901, 28178239, 30021884
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P07814
Protein name Bifunctional glutamate/proline--tRNA ligase (Bifunctional aminoacyl-tRNA synthetase) (Cell proliferation-inducing gene 32 protein) (Glutamatyl-prolyl-tRNA synthetase) [Includes: Glutamate--tRNA ligase (EC 6.1.1.17) (Glutamyl-tRNA synthetase) (GluRS); Prol
Protein function Multifunctional protein which primarily functions within the aminoacyl-tRNA synthetase multienzyme complex, also known as multisynthetase complex. Within the complex it catalyzes the attachment of both L-glutamate and L-proline to their cognate
PDB 1FYJ , 4HVC , 4K86 , 4K87 , 4K88 , 5A1N , 5A34 , 5A5H , 5BMU , 5V58 , 5VAD , 5Y6L , 6IY6 , 7BBU , 7F98 , 7F99 , 7F9A , 7F9B , 7F9C , 7F9D , 7OSY , 7OSZ , 7OT0 , 7OT1 , 7OT2 , 7OT3 , 7X09 , 7X1O , 7Y1H , 7Y1W , 7Y28 , 7Y3S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00043 GST_C
95 → 157
Glutathione S-transferase, C-terminal domain
 Domain
PF00749 tRNA-synt_1c
197 → 502
tRNA synthetases class I (E and Q), catalytic domain
 Domain
PF03950 tRNA-synt_1c_C
504 → 681
tRNA synthetases class I (E and Q), anti-codon binding domain
 Domain
PF00458 WHEP-TRS
753 → 805
WHEP-TRS domain
 Domain
PF00458 WHEP-TRS
826 → 878
WHEP-TRS domain
 Domain
PF00458 WHEP-TRS
904 → 956
WHEP-TRS domain
 Domain
PF00587 tRNA-synt_2b
1108 → 1287
tRNA synthetase class II core domain (G, H, P, S and T)
 Domain
PF03129 HGTP_anticodon
1303 → 1404
Anticodon binding domain
 Domain
PF09180 ProRS-C_1
1430 → 1512
Prolyl-tRNA synthetase, C-terminal
 Domain
Sequence 
MATLSLTVNSGDPPLGALLAVEHVKDDVSISVEEGKENILHVSENVIFTDVNSILRYLAR
VATTAGLYGSNLMEHTEIDHWLEFSATKLSSCDSFTSTINELNHCLSLRTYLVGNSLSLA
DLCVWATLKGNAAWQEQLKQKKAPVHVKRWFGFLEAQQAFQSVGTKWDVSTTKARVAPEK
KQDVGKFVELPGAEMGKVTVRFPPEASGYLHIGHAKAALLNQHYQVNFKGKLIMRFDDTN
PEKEKEDFEKVILEDVAMLHIKPDQFTYTSDHFETIMKYAEKLIQEGKAYVDDTPAEQMK
AEREQRIDSKHRKNPIEKNLQMWEEMKKGSQFGQSCCLRAKIDMSSNNGCMRDPTLYRCK
IQPHPRTGNKYNVYPTYDFACPIVDSIEGVTHALRTTEYHDRDEQFYWIIEALGIRKPYI
WEYSRLNLNNTVLSKRKLTWFVNEGLVDGWDDPRFPTVRGVLRRGMTVEGLKQFIAAQGS
SRSVVNMEWDKIWAFNKKVIDPVAPRYVALLKKEVIPVNVPEAQEEMKEVAKHPKNPEVG
LKPVWYSPKVFIEGADAETFSEGEMVTFINWGNLNITKIHKNADGKIISLDAKLNLENKD
YKKTTKVTWLAETTHALPIPVICVTYEHLITKPVLGKDEDFKQYVNKNSKHEELMLGDPC
LKDLKKGDIIQLQRRGFFICDQPYEPVSPYSCKEAPCVLIYIPDGHTKEMPTSGSKEKTK
VEATKNETSAPFKERPTPSLNNNCTTSEDSLVLYNRVAVQGDVVRELKAKKAPKEDVDAA
VKQLLSLKAEYKEKTGQEYKPGNPPAEIGQNISSNSSASILESKSLYDEVAAQGEVVRKL
KAEKSPKAKINEAVECLLSLKAQYKEKTGKEYIPGQPPLSQSSDSSPTRNSEPAGLETPE
AKVLFDKVASQGEVVRKLKTEKAPKDQVDIAVQELLQLKAQYKSLIGVEYKPVSATGAED
KDKKKKEKENKSEKQNKPQKQNDGQRKDPSKNQGGGLSSSGAGEGQGPKKQTRLGLEAKK
EENLADWYSQVITKSEMIEYHDISGCYILRPWAYAIWEAIKDFFDAEIKKLGVENCYFPM
FVSQSALEKEKTHVADFAPEVAWVTRSGKTELAEPIAIRPTSETVMYPAYAKWVQSHRDL
PIKLNQWCNVVRWEFKHPQPFLRTREFLWQEGHSAFATMEEAAEEVLQILDLYAQVYEEL
LAIPVVKGRKTEKEKFAGGDYTTTIEAFISASGRAIQGGTSHHLGQNFSKMFEIVFEDPK
IPGEKQFAYQNSWGLTTRTIGVMTMVHGDNMGLVLPPRVACVQVVIIPCGITNALSEEDK
EALIAKCNDYRRRLLSVNIRVRADLRDNYSPGWKFNHWELKGVPIRLEVGPRDMKSCQFV
AVRRDTGEKLTVAENEAETKLQAILEDIQVTLFTRASEDLKTHMVVANTMEDFQKILDSG
KIVQIPFCGEIDCEDWIKKTTARDQDLEPGAPSMGAKSLCIPFKPLCELQPGAKCVCGKN
PAKYYTLFGRSY
Sequence length 1512
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Porphyrin metabolism
Aminoacyl-tRNA biosynthesis
Metabolic pathways
Biosynthesis of cofactors 		  Cytosolic tRNA aminoacylation
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression Developmental regression rs1224421127
Hypomyelinating leukodystrophy LEUKODYSTROPHY, HYPOMYELINATING, 15 rs74315311, rs74315312, rs796065027, rs74315313, rs74315314, rs796065028, rs796065029, rs132630292, rs72466451, rs387906865, rs587776888, rs191582628, rs141156009, rs587776983, rs483352809, rs397514734, rs587777428, rs587777429, rs587777467, rs587777468, rs672601372, rs672601373, rs672601374, rs672601375, rs369398935, rs724159969, rs761635539, rs372781135, rs876657403, rs796052124, rs796052125, rs796052126, rs796052127, rs797045074, rs767399782, rs34757931, rs202003795, rs869312968, rs780663139, rs752127949, rs878853083, rs879253867, rs886037931, rs886037932, rs758595075, rs886037933, rs886039470, rs886039904, rs886041021, rs886041019, rs886041018, rs886041013, rs886041011, rs886041010, rs886041007, rs886041661, rs763593155, rs886041240, rs751575036, rs886043378, rs1064792894, rs1057519455, rs1057519456, rs769713780, rs1064793505, rs1064795865, rs1085307499, rs529613640, rs149587849, rs1131691696, rs1553500497, rs1356633840, rs748787734, rs747359907, rs763737931, rs898824971, rs1553318956, rs1474000585, rs1554310600, rs1473859981, rs1554131502, rs1033946108, rs1568409626, rs750731609, rs1564617866, rs1305006253, rs770637715, rs1255115751, rs1582181247, rs770857344, rs773388338, rs1156407486, rs751006626, rs767639108, rs1582184344, rs1582177745, rs1571908452, rs1239964151, rs1599405952, rs886041015, rs2086193735, rs1375875748, rs1671863383, rs1671854827, rs1302747902, rs1571908056 29576217
Leukodystrophy Leukodystrophy rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Unknown
Disease name Disease term dbSNP ID References
Cerebral atrophy Cerebral atrophy
Dysphagia Deglutition Disorders
Hyperopia Hyperopia
Hypoplasia of corpus callosum Hypoplasia of corpus callosum

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