SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q5JPH6

- SYEM_HUMAN

UniProt

Q5JPH6 - SYEM_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Probable glutamate--tRNA ligase, mitochondrial
Gene
EARS2, KIAA1970
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu) By similarity.UniRule annotation

Catalytic activityi

ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).UniRule annotation

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei50 – 501ATP By similarity
Binding sitei76 – 761Glutamate By similarity
Binding sitei246 – 2461Glutamate By similarity
Binding sitei249 – 2491ATP By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi284 – 2885ATP By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. glutamate-tRNA ligase activity Source: UniProtKB
  3. glutamate-tRNA(Gln) ligase activity Source: UniProtKB
  4. tRNA binding Source: InterPro

GO - Biological processi

  1. gene expression Source: Reactome
  2. glutamyl-tRNA aminoacylation Source: UniProtKB
  3. tRNA aminoacylation for mitochondrial protein translation Source: UniProtKB
  4. tRNA aminoacylation for protein translation Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Aminoacyl-tRNA synthetase, Ligase

Keywords - Biological processi

Protein biosynthesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding, RNA-binding

Enzyme and pathway databases

ReactomeiREACT_15302. Mitochondrial tRNA aminoacylation.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable glutamate--tRNA ligase, mitochondrial (EC:6.1.1.17)
Alternative name(s):
Glutamyl-tRNA synthetase
Short name:
GluRS
Gene namesi
Name:EARS2
Synonyms:KIAA1970
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:29419. EARS2.

Subcellular locationi

Mitochondrion matrix By similarity UniRule annotation

GO - Cellular componenti

  1. mitochondrial matrix Source: UniProtKB-SubCell
  2. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]: An autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551R → H in COXPD12. 1 Publication
VAR_069235
Natural varianti65 – 651K → E in COXPD12. 1 Publication
VAR_069236
Natural varianti96 – 961E → K in COXPD12. 1 Publication
VAR_069237
Natural varianti107 – 1071R → H in COXPD12. 1 Publication
VAR_069238
Natural varianti108 – 1081R → W in COXPD12. 1 Publication
VAR_069239
Natural varianti110 – 1101G → S in COXPD12. 1 Publication
VAR_069240
Natural varianti167 – 1671C → Y in COXPD12. 1 Publication
VAR_069241
Natural varianti168 – 1681R → G in COXPD12. 1 Publication
VAR_069242
Natural varianti204 – 2041G → S in COXPD12. 1 Publication
VAR_069243
Natural varianti224 – 2241G → S in COXPD12. 1 Publication
VAR_069244
Natural varianti317 – 3171G → C in COXPD12. 1 Publication
VAR_069245
Natural varianti426 – 4272TR → L in COXPD12.
VAR_069246
Natural varianti516 – 5161R → Q in COXPD12. 1 Publication
VAR_069247

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614924. phenotype.
Orphaneti314051. Leukoencephalopathy - thalamus and brainstem anomalies - high lactate.
PharmGKBiPA144596439.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4141Mitochondrion Reviewed prediction
Add
BLAST
Chaini42 – 523482Probable glutamate--tRNA ligase, mitochondrialUniRule annotation
PRO_0000254560Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei256 – 2561N6-succinyllysine By similarity
Modified residuei486 – 4861N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ5JPH6.
PaxDbiQ5JPH6.
PRIDEiQ5JPH6.

PTM databases

PhosphoSiteiQ5JPH6.

Expressioni

Gene expression databases

ArrayExpressiQ5JPH6.
BgeeiQ5JPH6.
CleanExiHS_EARS2.
GenevestigatoriQ5JPH6.

Organism-specific databases

HPAiHPA043289.
HPA043633.

Interactioni

Protein-protein interaction databases

BioGridi125866. 1 interaction.
STRINGi9606.ENSP00000343488.

Structurei

3D structure databases

ProteinModelPortaliQ5JPH6.
SMRiQ5JPH6. Positions 36-518.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni40 – 423Glutamate binding By similarity
Regioni228 – 2325Glutamate binding By similarity

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi45 – 539"HIGH" regionUniRule annotation
Motifi284 – 2885"KMSKS" regionUniRule annotation

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0008.
HOGENOMiHOG000252720.
HOVERGENiHBG056174.
InParanoidiQ5JPH6.
KOiK01885.
OrthoDBiEOG73Z2SZ.
PhylomeDBiQ5JPH6.
TreeFamiTF313268.

Family and domain databases

Gene3Di1.10.10.350. 1 hit.
1.10.1160.10. 1 hit.
3.40.50.620. 2 hits.
HAMAPiMF_00022_B. Glu_tRNA_synth_B.
InterProiIPR008925. aa-tRNA-synth_I_codon-bd.
IPR020751. aa-tRNA-synth_I_codon-bd_sub2.
IPR001412. aa-tRNA-synth_I_CS.
IPR004527. Glu-tRNA-ligase_bac/mito.
IPR000924. Glu/Gln-tRNA-synth.
IPR020061. Glu/Gln-tRNA-synth_Ib_a-bdl.
IPR020058. Glu/Gln-tRNA-synth_Ib_cat-dom.
IPR014729. Rossmann-like_a/b/a_fold.
[Graphical view]
PANTHERiPTHR10119. PTHR10119. 1 hit.
PfamiPF00749. tRNA-synt_1c. 1 hit.
[Graphical view]
PRINTSiPR00987. TRNASYNTHGLU.
SUPFAMiSSF48163. SSF48163. 1 hit.
TIGRFAMsiTIGR00464. gltX_bact. 1 hit.
PROSITEiPS00178. AA_TRNA_LIGASE_I. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q5JPH6-1 [UniParc]FASTAAdd to Basket

« Hide

MAALLRRLLQ RERPSAASGR PVGRREANLG TDAGVAVRVR FAPSPTGFLH    50
LGGLRTALYN YIFAKKYQGS FILRLEDTDQ TRVVPGAAEN IEDMLEWAGI 100
PPDESPRRGG PAGPYQQSQR LELYAQATEA LLKTGAAYPC FCSPQRLELL 150
KKEALRNHQT PRYDNRCRNM SQEQVAQKLA KDPKPAIRFR LEQVVPAFQD 200
LVYGWNRHEV ASVEGDPVIM KSDGFPTYHL ACVVDDHHMG ISHVLRGSEW 250
LVSTAKHLLL YQALGWQPPH FAHLPLLLNR DGSKLSKRQG DVFLEHFAAD 300
GFLPDSLLDI ITNCGSGFAE NQMGRTLPEL ITQFNLTQVT CHSALLDLEK 350
LPEFNRLHLQ RLVSNESQRR QLVGKLQVLV EEAFGCQLQN RDVLNPVYVE 400
RILLLRQGHI CRLQDLVSPV YSYLWTRPAV GRAQLDAISE KVDVIAKRVL 450
GLLERSSMSL TQDMLNGELK KLSEGLEGTK YSNVMKLLRM ALSGQQQGPP 500
VAEMMLALGP KEVRERIQKV VSS 523
Length:523
Mass (Da):58,689
Last modified:October 31, 2006 - v2
Checksum:iFA9B19569AD9F5DB
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551R → H in COXPD12. 1 Publication
VAR_069235
Natural varianti65 – 651K → E in COXPD12. 1 Publication
VAR_069236
Natural varianti96 – 961E → K in COXPD12. 1 Publication
VAR_069237
Natural varianti107 – 1071R → H in COXPD12. 1 Publication
VAR_069238
Natural varianti108 – 1081R → W in COXPD12. 1 Publication
VAR_069239
Natural varianti110 – 1101G → S in COXPD12. 1 Publication
VAR_069240
Natural varianti167 – 1671C → Y in COXPD12. 1 Publication
VAR_069241
Natural varianti168 – 1681R → G in COXPD12. 1 Publication
VAR_069242
Natural varianti204 – 2041G → S in COXPD12. 1 Publication
VAR_069243
Natural varianti224 – 2241G → S in COXPD12. 1 Publication
VAR_069244
Natural varianti317 – 3171G → C in COXPD12. 1 Publication
VAR_069245
Natural varianti426 – 4272TR → L in COXPD12.
VAR_069246
Natural varianti457 – 4571S → G.2 Publications
Corresponds to variant rs6497671 [ dbSNP | Ensembl ].
VAR_028840
Natural varianti516 – 5161R → Q in COXPD12. 1 Publication
VAR_069247

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK095998 mRNA. Translation: BAG53194.1.
AL832489 mRNA. Translation: CAI46121.1.
CH471145 Genomic DNA. Translation: EAW55822.1.
CH471145 Genomic DNA. Translation: EAW55824.1.
AB075850 mRNA. Translation: BAB85556.1.
CCDSiCCDS42132.1.
RefSeqiNP_001077083.1. NM_001083614.1.
UniGeneiHs.620541.

Genome annotation databases

EnsembliENST00000449606; ENSP00000395196; ENSG00000103356.
ENST00000563459; ENSP00000456467; ENSG00000103356.
GeneIDi124454.
KEGGihsa:124454.
UCSCiuc002dlt.4. human.

Polymorphism databases

DMDMi117949790.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK095998 mRNA. Translation: BAG53194.1 .
AL832489 mRNA. Translation: CAI46121.1 .
CH471145 Genomic DNA. Translation: EAW55822.1 .
CH471145 Genomic DNA. Translation: EAW55824.1 .
AB075850 mRNA. Translation: BAB85556.1 .
CCDSi CCDS42132.1.
RefSeqi NP_001077083.1. NM_001083614.1.
UniGenei Hs.620541.

3D structure databases

ProteinModelPortali Q5JPH6.
SMRi Q5JPH6. Positions 36-518.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125866. 1 interaction.
STRINGi 9606.ENSP00000343488.

Chemistry

DrugBanki DB00142. L-Glutamic Acid.

PTM databases

PhosphoSitei Q5JPH6.

Polymorphism databases

DMDMi 117949790.

Proteomic databases

MaxQBi Q5JPH6.
PaxDbi Q5JPH6.
PRIDEi Q5JPH6.

Protocols and materials databases

DNASUi 124454.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000449606 ; ENSP00000395196 ; ENSG00000103356 .
ENST00000563459 ; ENSP00000456467 ; ENSG00000103356 .
GeneIDi 124454.
KEGGi hsa:124454.
UCSCi uc002dlt.4. human.

Organism-specific databases

CTDi 124454.
GeneCardsi GC16M023533.
HGNCi HGNC:29419. EARS2.
HPAi HPA043289.
HPA043633.
MIMi 612799. gene.
614924. phenotype.
neXtProti NX_Q5JPH6.
Orphaneti 314051. Leukoencephalopathy - thalamus and brainstem anomalies - high lactate.
PharmGKBi PA144596439.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0008.
HOGENOMi HOG000252720.
HOVERGENi HBG056174.
InParanoidi Q5JPH6.
KOi K01885.
OrthoDBi EOG73Z2SZ.
PhylomeDBi Q5JPH6.
TreeFami TF313268.

Enzyme and pathway databases

Reactomei REACT_15302. Mitochondrial tRNA aminoacylation.

Miscellaneous databases

ChiTaRSi EARS2. human.
GenomeRNAii 124454.
NextBioi 81282.
PROi Q5JPH6.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q5JPH6.
Bgeei Q5JPH6.
CleanExi HS_EARS2.
Genevestigatori Q5JPH6.

Family and domain databases

Gene3Di 1.10.10.350. 1 hit.
1.10.1160.10. 1 hit.
3.40.50.620. 2 hits.
HAMAPi MF_00022_B. Glu_tRNA_synth_B.
InterProi IPR008925. aa-tRNA-synth_I_codon-bd.
IPR020751. aa-tRNA-synth_I_codon-bd_sub2.
IPR001412. aa-tRNA-synth_I_CS.
IPR004527. Glu-tRNA-ligase_bac/mito.
IPR000924. Glu/Gln-tRNA-synth.
IPR020061. Glu/Gln-tRNA-synth_Ib_a-bdl.
IPR020058. Glu/Gln-tRNA-synth_Ib_cat-dom.
IPR014729. Rossmann-like_a/b/a_fold.
[Graphical view ]
PANTHERi PTHR10119. PTHR10119. 1 hit.
Pfami PF00749. tRNA-synt_1c. 1 hit.
[Graphical view ]
PRINTSi PR00987. TRNASYNTHGLU.
SUPFAMi SSF48163. SSF48163. 1 hit.
TIGRFAMsi TIGR00464. gltX_bact. 1 hit.
PROSITEi PS00178. AA_TRNA_LIGASE_I. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLY-457.
    Tissue: Kidney.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLY-457.
    Tissue: Testis.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins."
    Nagase T., Kikuno R., Ohara O.
    DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-523.
    Tissue: Brain.
  5. "Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS."
    Bonnefond L., Fender A., Rudinger-Thirion J., Giege R., Florentz C., Sissler M.
    Biochemistry 44:4805-4816(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  6. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-486, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations."
    Steenweg M.E., Ghezzi D., Haack T., Abbink T.E., Martinelli D., van Berkel C.G., Bley A., Diogo L., Grillo E., Te Water Naude J., Strom T.M., Bertini E., Prokisch H., van der Knaap M.S., Zeviani M.
    Brain 135:1387-1394(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS COXPD12 HIS-55; LYS-96; HIS-107; TRP-108; SER-110; TYR-167; GLY-168; SER-204; SER-224; CYS-317; 426-THR-ARG-427 DELINS LEU AND GLN-516.
  9. "Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation."
    Talim B., Pyle A., Griffin H., Topaloglu H., Tokatli A., Keogh M.J., Santibanez-Koref M., Chinnery P.F., Horvath R.
    Brain 136:E228-E228(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT COXPD12 GLU-65.

Entry informationi

Entry nameiSYEM_HUMAN
AccessioniPrimary (citable) accession number: Q5JPH6
Secondary accession number(s): B3KTT2, D3DWF1, Q8TF31
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: September 3, 2014
This is version 89 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi