Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(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)

Q5JPH6

- SYEM_HUMAN

UniProt

Q5JPH6 - SYEM_HUMAN

Protein

Probable glutamate--tRNA ligase, mitochondrial

Gene

EARS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 2 (31 Oct 2006)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    Catalytic activityi

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

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei50 – 501ATPBy similarity
    Binding sitei76 – 761GlutamateBy similarity
    Binding sitei246 – 2461GlutamateBy similarity
    Binding sitei249 – 2491ATPBy similarity

    Regions

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

    GO - Molecular functioni

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

    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

    GO - Cellular componenti

    1. mitochondrial matrix Source: UniProtKB-SubCell
    2. mitochondrion Source: UniProtKB

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 4141MitochondrionSequence AnalysisAdd
    BLAST
    Chaini42 – 523482Probable glutamate--tRNA ligase, mitochondrialPRO_0000254560Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei256 – 2561N6-succinyllysineBy 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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

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

    Motif

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

    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

    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: October 1, 2014
    This is version 90 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