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Protein

Methionine--tRNA ligase, mitochondrial

Gene

MARS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

    GO - Biological processi

    • methionyl-tRNA aminoacylation Source: UniProtKB
    • tRNA aminoacylation for protein translation Source: Reactome

    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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 2

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000247626.4
    HGNCiHGNC:25133 MARS2
    MIMi609728 gene
    neXtProtiNX_Q96GW9

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    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:rs794726870EnsemblClinVar.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
    ProteomicsDBi76673

    PTM databases

    iPTMnetiQ96GW9
    PhosphoSitePlusiQ96GW9

    Expressioni

    Gene expression databases

    BgeeiENSG00000247626
    CleanExiHS_MARS2
    GenevisibleiQ96GW9 HS

    Organism-specific databases

    HPAiHPA035589
    HPA035590

    Interactioni

    Protein-protein interaction databases

    BioGridi124988, 16 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

    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
    Gene3Di3.40.50.620, 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:rs794726870EnsemblClinVar.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

    Similar proteinsi

    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 20, 2018
    This is version 135 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

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