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 name Gene Name - the full gene name approved by the HGNC.
Glutamyl-prolyl-tRNA synthetase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPRS1
Synonyms (NCBI Gene) Gene synonyms aliases
EARS, EPRS, GLUPRORS, HLD15, PARS, PIG32, QARS, QPRS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HLD15
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q41
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
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
Show/Hide all(31)
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 IDs Other 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
138295 3418 ENSG00000136628
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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 Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
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
View all (91 more)		 29576217
Leukodystrophy Leukodystrophy rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604
View all (6 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Hypomyelinating Leukodystrophy leukodystrophy, hypomyelinating, 15 GenCC
Alzheimer disease Alzheimer disease GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining
Disease Name Relationship Type References
Bone Diseases Associate 34537243, 36411955
Breast Neoplasms Stimulate 27612429
Carcinogenesis Associate 27612429
Demyelinating Diseases Associate 29576217
Diabetes Mellitus Associate 34537243, 36411955
Heart Defects Congenital Associate 25310850, 27871331
Idiopathic Pulmonary Fibrosis Associate 40022042
Inflammation Associate 24141779
Leukodystrophy Metachromatic Associate 36411955
Neoplasms Associate 12384809, 29596499