• Gene id: 2058

Gene Summary

• Gene Symbol: EPRS1   Gene   UCSC   Ensembl
• Aliases: EARS, EPRS, GLUPRORS, HLD15, PARS, PIG32, QARS, QPRS
• Gene name: glutamyl-prolyl-tRNA synthetase 1
• Alternate names: bifunctional glutamate/proline--tRNA ligase, bifunctional aminoacyl-tRNA synthetase, cell proliferation-inducing gene 32 protein, glutamate tRNA ligase, glutamatyl-prolyl-tRNA synthetase, glutaminyl-tRNA synthetase, proliferation-inducing gene 32 protein, prolif,
• Gene location: 1q41 (220046504: 219968599)     Exons: 33     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 138295

Protein Summary

• Protein general information: P07814  
  • 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
  • Length: 1512  
  • Mass: 170591
• Sequence:

  MATLSLTVNSGDPPLGALLAVEHVKDDVSISVEEGKENILHVSENVIFTDVNSILRYLARVATTAGLYGSNLMEH
  TEIDHWLEFSATKLSSCDSFTSTINELNHCLSLRTYLVGNSLSLADLCVWATLKGNAAWQEQLKQKKAPVHVKRW
  FGFLEAQQAFQSVGTKWDVSTTKARVAPEKKQDVGKFVELPGAEMGKVTVRFPPEASGYLHIGHAKAALLNQHYQ
  VNFKGKLIMRFDDTNPEKEKEDFEKVILEDVAMLHIKPDQFTYTSDHFETIMKYAEKLIQEGKAYVDDTPAEQMK
  AEREQRIDSKHRKNPIEKNLQMWEEMKKGSQFGQSCCLRAKIDMSSNNGCMRDPTLYRCKIQPHPRTGNKYNVYP
  TYDFACPIVDSIEGVTHALRTTEYHDRDEQFYWIIEALGIRKPYIWEYSRLNLNNTVLSKRKLTWFVNEGLVDGW
  DDPRFPTVRGVLRRGMTVEGLKQFIAAQGSSRSVVNMEWDKIWAFNKKVIDPVAPRYVALLKKEVIPVNVPEAQE
  EMKEVAKHPKNPEVGLKPVWYSPKVFIEGADAETFSEGEMVTFINWGNLNITKIHKNADGKIISLDAKLNLENKD
  YKKTTKVTWLAETTHALPIPVICVTYEHLITKPVLGKDEDFKQYVNKNSKHEELMLGDPCLKDLKKGDIIQLQRR
  GFFICDQPYEPVSPYSCKEAPCVLIYIPDGHTKEMPTSGSKEKTKVEATKNETSAPFKERPTPSLNNNCTTSEDS
  LVLYNRVAVQGDVVRELKAKKAPKEDVDAAVKQLLSLKAEYKEKTGQEYKPGNPPAEIGQNISSNSSASILESKS
  LYDEVAAQGEVVRKLKAEKSPKAKINEAVECLLSLKAQYKEKTGKEYIPGQPPLSQSSDSSPTRNSEPAGLETPE
  AKVLFDKVASQGEVVRKLKTEKAPKDQVDIAVQELLQLKAQYKSLIGVEYKPVSATGAEDKDKKKKEKENKSEKQ
  NKPQKQNDGQRKDPSKNQGGGLSSSGAGEGQGPKKQTRLGLEAKKEENLADWYSQVITKSEMIEYHDISGCYILR
  PWAYAIWEAIKDFFDAEIKKLGVENCYFPMFVSQSALEKEKTHVADFAPEVAWVTRSGKTELAEPIAIRPTSETV
  MYPAYAKWVQSHRDLPIKLNQWCNVVRWEFKHPQPFLRTREFLWQEGHSAFATMEEAAEEVLQILDLYAQVYEEL
  LAIPVVKGRKTEKEKFAGGDYTTTIEAFISASGRAIQGGTSHHLGQNFSKMFEIVFEDPKIPGEKQFAYQNSWGL
  TTRTIGVMTMVHGDNMGLVLPPRVACVQVVIIPCGITNALSEEDKEALIAKCNDYRRRLLSVNIRVRADLRDNYS
  PGWKFNHWELKGVPIRLEVGPRDMKSCQFVAVRRDTGEKLTVAENEAETKLQAILEDIQVTLFTRASEDLKTHMV
  VANTMEDFQKILDSGKIVQIPFCGEIDCEDWIKKTTARDQDLEPGAPSMGAKSLCIPFKPLCELQPGAKCVCGKN
  PAKYYTLFGRSY

• Structural information:
  • Protein Domains: (749..80-)
    (/note="WHEP-TRS-1)
    (822..87-)
    (/note="WHEP-TRS-2)
    (900..95-)
    (/note="WHEP-TRS-3")
  • Interpro: IPR002314  IPR001412  IPR006195  IPR004154  IPR036621   IPR004526  IPR000924  IPR020058  IPR020059  IPR036282  IPR004046  IPR004499  IPR016061  IPR017449  IPR033721  IPR020056  IPR011035  IPR014729  IPR009068  IPR000738  
  • Prosite: PS00178 PS50862 PS00762 PS51185
  • CDD: cd00778
  • PDB: 1FYJ 4HVC 4K86 4K87 4K88 5A1N 5A34 5A5H 5BMU 5V58 5VAD 5Y6L 6IY6
  • PDBsum: 1FYJ 4HVC 4K86 4K87 4K88 5A1N 5A34 5A5H 5BMU 5V58 5VAD 5Y6L 6IY6
  • DIP: 40825
  • STRING: ENSP00000355890
• Other Databases: GeneCards:  EPRS1  Malacards:  EPRS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0006433	prolyl-tRNA aminoacylation	IBA	biological process
GO:0004827	proline-tRNA ligase activity	IBA	molecular function
GO:0017101	aminoacyl-tRNA synthetase multienzyme complex	IBA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0004827	proline-tRNA ligase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0017101	aminoacyl-tRNA synthetase multienzyme complex	IDA	cellular component
GO:0071346	cellular response to interferon-gamma	IDA	biological process
GO:0035613	RNA stem-loop binding	IDA	molecular function
GO:1990904	ribonucleoprotein complex	IDA	cellular component
GO:0017148	negative regulation of translation	IDA	biological process
GO:0006433	prolyl-tRNA aminoacylation	IDA	biological process
GO:0097452	GAIT complex	IDA	cellular component
GO:0097452	GAIT complex	IDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0017148	negative regulation of translation	IMP	biological process
GO:0140212	regulation of long-chain fatty acid import into cell	IMP	biological process
GO:0032869	cellular response to insulin stimulus	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	ISS	cellular component
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0004818	glutamate-tRNA ligase activity	IEA	molecular function
GO:0004827	proline-tRNA ligase activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0006424	glutamyl-tRNA aminoacylation	IEA	biological process
GO:0043039	tRNA aminoacylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006433	prolyl-tRNA aminoacylation	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0006417	regulation of translation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0004818	glutamate-tRNA ligase activity	IEA	molecular function
GO:0004827	proline-tRNA ligase activity	IEA	molecular function
GO:0004818	glutamate-tRNA ligase activity	TAS	molecular function
GO:0004827	proline-tRNA ligase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097452	GAIT complex	IEA	cellular component
GO:0006433	prolyl-tRNA aminoacylation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0140212	regulation of long-chain fatty acid import into cell	IEA	biological process
GO:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0017148	negative regulation of translation	IEA	biological process
GO:0017101	aminoacyl-tRNA synthetase multienzyme complex	IEA	cellular component
GO:0004827	proline-tRNA ligase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0017101	aminoacyl-tRNA synthetase multienzyme complex	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051020	GTPase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00970	Aminoacyl-tRNA biosynthesis
hsa00860	Porphyrin and chlorophyll metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq