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UniProtKB - Q96GW9 (SYMM_HUMAN)

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Protein

Methionine--tRNA ligase, mitochondrial

Gene

MARS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

ATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met).1 Publication

Kineticsi

  1. KM=18 µM for Met1 Publication
  2. KM=85 µM for ATP1 Publication
  3. KM=2.1 µM for tRNA-Met1 Publication

    pH dependencei

    Optimum pH is 7.8-8.2.1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei350ATPBy similarity1

    GO - Molecular functioni

    • ATP binding Source: UniProtKB-KW
    • methionine-tRNA ligase activity Source: UniProtKB
    Complete GO annotation...

    GO - Biological processi

    • methionyl-tRNA aminoacylation Source: UniProtKB
    • tRNA aminoacylation for protein translation Source: Reactome
    Complete GO annotation...

    Keywordsi

    Molecular functionAminoacyl-tRNA synthetase, Ligase
    Biological processProtein biosynthesis
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiR-HSA-379726. Mitochondrial tRNA aminoacylation.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Methionine--tRNA ligase, mitochondrial (EC:6.1.1.10)
    Alternative name(s):
    Methionyl-tRNA synthetase 2
    Mitochondrial methionyl-tRNA synthetase
    Short name:
    MtMetRS
    Gene namesi
    Name:MARS2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    Proteomesi
    • UP000005640 Componenti: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:25133. MARS2.

    Subcellular locationi

    GO - Cellular componenti

    • mitochondrial matrix Source: UniProtKB
    Complete GO annotation...

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Spastic ataxia 3, autosomal recessive (SPAX3)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning.
    See also OMIM:611390
    Combined oxidative phosphorylation deficiency 25 (COXPD25)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss.
    See also OMIM:616430
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_073858142R → W in COXPD25. 1 PublicationCorresponds to variant dbSNP:rs794726870Ensembl.1

    Keywords - Diseasei

    Deafness, Disease mutation, Neurodegeneration, Primary mitochondrial disease

    Organism-specific databases

    DisGeNETi92935.
    MalaCardsiMARS2.
    MIMi611390. phenotype.
    616430. phenotype.
    OpenTargetsiENSG00000247626.
    Orphaneti314603. Autosomal recessive spastic ataxia with leukoencephalopathy.
    PharmGKBiPA134863396.

    Chemistry databases

    DrugBankiDB00134. L-Methionine.

    Polymorphism and mutation databases

    BioMutaiMARS2.
    DMDMi85541638.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transit peptidei1 – 29MitochondrionSequence analysisAdd BLAST29
    ChainiPRO_000004549330 – 593Methionine--tRNA ligase, mitochondrialAdd BLAST564

    Proteomic databases

    EPDiQ96GW9.
    MaxQBiQ96GW9.
    PaxDbiQ96GW9.
    PeptideAtlasiQ96GW9.
    PRIDEiQ96GW9.

    PTM databases

    iPTMnetiQ96GW9.
    PhosphoSitePlusiQ96GW9.

    Expressioni

    Gene expression databases

    BgeeiENSG00000247626.
    CleanExiHS_MARS2.
    GenevisibleiQ96GW9. HS.

    Organism-specific databases

    HPAiHPA035589.
    HPA035590.

    Interactioni

    Protein-protein interaction databases

    BioGridi124988. 12 interactors.
    IntActiQ96GW9. 1 interactor.
    STRINGi9606.ENSP00000282276.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96GW9.
    SMRiQ96GW9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Motifi52 – 62"HIGH" regionAdd BLAST11
    Motifi347 – 351"KMSKS" region5

    Sequence similaritiesi

    Belongs to the class-I aminoacyl-tRNA synthetase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiKOG0436. Eukaryota.
    COG0143. LUCA.
    GeneTreeiENSGT00550000075136.
    HOGENOMiHOG000200401.
    HOVERGENiHBG080702.
    InParanoidiQ96GW9.
    KOiK01874.
    OMAiTYVWFDA.
    OrthoDBiEOG091G08H4.
    PhylomeDBiQ96GW9.
    TreeFamiTF105709.

    Family and domain databases

    CDDicd00814. MetRS_core. 1 hit.
    Gene3Di1.10.730.10. 1 hit.
    3.40.50.620. 2 hits.
    InterProiView protein in InterPro
    IPR014758. Met-tRNA_synth.
    IPR015413. Methionyl/Leucyl_tRNA_Synth.
    IPR033911. MetRS_core.
    IPR014729. Rossmann-like_a/b/a_fold.
    IPR009080. tRNAsynth_Ia_anticodon-bd.
    PfamiView protein in Pfam
    PF09334. tRNA-synt_1g. 1 hit.
    PRINTSiPR01041. TRNASYNTHMET.
    SUPFAMiSSF47323. SSF47323. 1 hit.
    TIGRFAMsiTIGR00398. metG. 1 hit.

    Sequencei

    Sequence statusi: Complete.

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

    Q96GW9-1 [UniParc]FASTAAdd to basket

    « Hide

            10         20         30         40         50
    MLRTSVLRLL GRTGASRLSL LEDFGPRYYS SGSLSAGDDA CDVRAYFTTP 
            60         70         80         90        100
    IFYVNAAPHI GHLYSALLAD ALCRHRRLRG PSTAATRFST GTDEHGLKIQ 
           110        120        130        140        150
    QAAATAGLAP TELCDRVSEQ FQQLFQEAGI SCTDFIRTTE ARHRVAVQHF 
           160        170        180        190        200
    WGVLKSRGLL YKGVYEGWYC ASDECFLPEA KVTQQPGPSG DSFPVSLESG 
           210        220        230        240        250
    HPVSWTKEEN YIFRLSQFRK PLQRWLRGNP QAITPEPFHH VVLQWLDEEL 
           260        270        280        290        300
    PDLSVSRRSS HLHWGIPVPG DDSQTIYVWL DALVNYLTVI GYPNAEFKSW 
           310        320        330        340        350
    WPATSHIIGK DILKFHAIYW PAFLLGAGMS PPQRICVHSH WTVCGQKMSK 
           360        370        380        390        400
    SLGNVVDPRT CLNRYTVDGF RYFLLRQGVP NWDCDYYDEK VVKLLNSELA 
           410        420        430        440        450
    DALGGLLNRC TAKRINPSET YPAFCTTCFP SEPGLVGPSV RAQAEDYALV 
           460        470        480        490        500
    SAVATLPKQV ADHYDNFRIY KALEAVSSCV RQTNGFVQRH APWKLNWESP 
           510        520        530        540        550
    VDAPWLGTVL HVALECLRVF GTLLQPVTPS LADKLLSRLG VSASERSLGE 
           560        570        580        590 
    LYFLPRFYGH PCPFEGRRLG PETGLLFPRL DQSRTWLVKA HRT
    Length:593
    Mass (Da):66,591
    Last modified:January 10, 2006 - v2
    Checksum:iA5076FD9F31F4B96
    GO

    Sequence cautioni

    The sequence AAH09115 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
    The sequence AAH40934 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti535 – 536LL → MM in BAC92749 (Ref. 1) Curated2

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_073858142R → W in COXPD25. 1 PublicationCorresponds to variant dbSNP:rs794726870Ensembl.1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		AB107013 mRNA. Translation: BAC92749.1.
    AK098121 mRNA. Translation: BAC05238.1.
    AC073058 Genomic DNA. Translation: AAX93244.1.
    BC009115 mRNA. Translation: AAH09115.1. Different initiation.
    BC040934 mRNA. Translation: AAH40934.1. Different initiation.
    BC126294 mRNA. Translation: AAI26295.1.
    CCDSiCCDS33358.1.
    RefSeqiNP_612404.1. NM_138395.3.
    UniGeneiHs.744330.

    Genome annotation databases

    EnsembliENST00000282276; ENSP00000282276; ENSG00000247626.
    GeneIDi92935.
    KEGGihsa:92935.
    UCSCiuc002uuq.4. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		AB107013 mRNA. Translation: BAC92749.1.
    AK098121 mRNA. Translation: BAC05238.1.
    AC073058 Genomic DNA. Translation: AAX93244.1.
    BC009115 mRNA. Translation: AAH09115.1. Different initiation.
    BC040934 mRNA. Translation: AAH40934.1. Different initiation.
    BC126294 mRNA. Translation: AAI26295.1.
    CCDSiCCDS33358.1.
    RefSeqiNP_612404.1. NM_138395.3.
    UniGeneiHs.744330.

    3D structure databases

    ProteinModelPortaliQ96GW9.
    SMRiQ96GW9.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi124988. 12 interactors.
    IntActiQ96GW9. 1 interactor.
    STRINGi9606.ENSP00000282276.

    Chemistry databases

    DrugBankiDB00134. L-Methionine.

    PTM databases

    iPTMnetiQ96GW9.
    PhosphoSitePlusiQ96GW9.

    Polymorphism and mutation databases

    BioMutaiMARS2.
    DMDMi85541638.

    Proteomic databases

    EPDiQ96GW9.
    MaxQBiQ96GW9.
    PaxDbiQ96GW9.
    PeptideAtlasiQ96GW9.
    PRIDEiQ96GW9.

    Protocols and materials databases

    DNASUi92935.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000282276; ENSP00000282276; ENSG00000247626.
    GeneIDi92935.
    KEGGihsa:92935.
    UCSCiuc002uuq.4. human.

    Organism-specific databases

    CTDi92935.
    DisGeNETi92935.
    GeneCardsiMARS2.
    HGNCiHGNC:25133. MARS2.
    HPAiHPA035589.
    HPA035590.
    MalaCardsiMARS2.
    MIMi609728. gene.
    611390. phenotype.
    616430. phenotype.
    neXtProtiNX_Q96GW9.
    OpenTargetsiENSG00000247626.
    Orphaneti314603. Autosomal recessive spastic ataxia with leukoencephalopathy.
    PharmGKBiPA134863396.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG0436. Eukaryota.
    COG0143. LUCA.
    GeneTreeiENSGT00550000075136.
    HOGENOMiHOG000200401.
    HOVERGENiHBG080702.
    InParanoidiQ96GW9.
    KOiK01874.
    OMAiTYVWFDA.
    OrthoDBiEOG091G08H4.
    PhylomeDBiQ96GW9.
    TreeFamiTF105709.

    Enzyme and pathway databases

    ReactomeiR-HSA-379726. Mitochondrial tRNA aminoacylation.

    Miscellaneous databases

    GenomeRNAii92935.
    PROiPR:Q96GW9.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000247626.
    CleanExiHS_MARS2.
    GenevisibleiQ96GW9. HS.

    Family and domain databases

    CDDicd00814. MetRS_core. 1 hit.
    Gene3Di1.10.730.10. 1 hit.
    3.40.50.620. 2 hits.
    InterProiView protein in InterPro
    IPR014758. Met-tRNA_synth.
    IPR015413. Methionyl/Leucyl_tRNA_Synth.
    IPR033911. MetRS_core.
    IPR014729. Rossmann-like_a/b/a_fold.
    IPR009080. tRNAsynth_Ia_anticodon-bd.
    PfamiView protein in Pfam
    PF09334. tRNA-synt_1g. 1 hit.
    PRINTSiPR01041. TRNASYNTHMET.
    SUPFAMiSSF47323. SSF47323. 1 hit.
    TIGRFAMsiTIGR00398. metG. 1 hit.
    ProtoNetiSearch...

    Entry informationi

    Entry nameiSYMM_HUMAN
    AccessioniPrimary (citable) accession number: Q96GW9
    Secondary accession number(s): A0AVC3
    , Q76E79, Q8IW62, Q8N7N4
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2006
    Last sequence update: January 10, 2006
    Last modified: June 7, 2017
    This is version 129 of the entry and version 2 of the sequence. See 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 2
      Human chromosome 2: 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

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.