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    MARS1 methionyl-tRNA synthetase 1 [ Homo sapiens (human) ]

    Gene ID: 4141, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MARS1provided by HGNC
    Official Full Name
    methionyl-tRNA synthetase 1provided by HGNC
    Primary source
    HGNC:HGNC:6898
    See related
    Ensembl:ENSG00000166986 MIM:156560; AllianceGenome:HGNC:6898
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRS; ILLD; MARS; TTD9; CMT2U; ILFS2; METRS; MTRNS; SPG70
    Summary
    This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]
    Expression
    Ubiquitous expression in testis (RPKM 31.8), appendix (RPKM 28.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MARS1 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57488068..57516652)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57456360..57484880)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57881851..57910435)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4581 Neighboring gene inhibin subunit beta E Neighboring gene GLI family zinc finger 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57869684-57870573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6540 Neighboring gene Rho GTPase activating protein 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6542 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:57880828-57881775 and GRCh37_chr12:57881776-57882722 Neighboring gene Sharpr-MPRA regulatory region 11633 Neighboring gene uncharacterized LOC124903093 Neighboring gene uncharacterized LOC128125814 Neighboring gene microRNA 6758 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:57913133-57914094 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:57914069-57915268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57916016-57916975 Neighboring gene DNA damage inducible transcript 3 Neighboring gene microRNA 616 Neighboring gene methyl-CpG binding domain protein 6 Neighboring gene dynactin subunit 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Two non-redundant fragments in the N-terminal peptide of human cytosolic methionyl-tRNA synthetase were indispensable for the multi-synthetase complex incorporation and enzyme activity. He R, et al. Biochim Biophys Acta, 2009 Feb. PMID 19064003
    2. Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature. La Fay C, et al. Eur J Med Genet, 2021 Nov. PMID 34496286
    3. Structural basis for the dynamics of human methionyl-tRNA synthetase in multi-tRNA synthetase complexes. Kim DK, et al. Nucleic Acids Res, 2021 Jun 21. PMID 34086935, Free PMC Article
    4. Cloning of a human cDNA encoding a protein with high homology to yeast methionyl-tRNA synthetase. Lage H, et al. Gene, 1996 Oct 31. PMID 8921912
    5. Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. van Meel E, et al. BMC Med Genet, 2013 Oct 8. PMID 24103465, Free PMC Article

    See all (207) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
      Title: Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
    2. Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.
      Title: Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.
    3. Structural basis for the dynamics of human methionyl-tRNA synthetase in multi-tRNA synthetase complexes.
      Title: Structural basis for the dynamics of human methionyl-tRNA synthetase in multi-tRNA synthetase complexes.
    4. MRS/CD45 dual IF staining showed good diagnostic performance and may be a good tool complementing conventional cytology test for determining lymph node metastasis of non-small cell lung cancer.
      Title: Methionyl-tRNA Synthetase is a Useful Diagnostic Marker for Lymph Node Metastasis in Non-Small Cell Lung Cancer.
    5. The results establish that the pulmonary alveolar proteinosis-related substitutions in MARS impact the tRNAMet-aminoacylation reaction especially at the level of methionine recognition.
      Title: Mutations in MARS identified in a specific type of pulmonary alveolar proteinosis alter methionyl-tRNA synthetase activity.
    6. Compound Arg618Cys and Tyr307Cys variants were identified in an infant with syndromic interstitial lung and liver disease. Arg618Cys associated with Charcot-Marie-Tooth disease was inherited from an unaffected father.
      Title: MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.
    7. MRS is frequently overexpressed in NSCLC. Moreover, MRS is related to mTORC1 activity and its overexpression is associated with poor clinical outcomes, indicating that it has potential as a putative therapeutic target.
      Title: Methionyl-tRNA synthetase overexpression is associated with poor clinical outcomes in non-small cell lung cancer.
    8. Genotype-phenotype correlation analysis suggests most of the interstitial lung and liver disease (ILLD), mutations locate in the catalytic domain of MARS. ILLD and Charcot-Marie-Tooth disease, axonal, type 2U might have different disease mechanism.
      Title: Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.
    9. analysis of the heterotetrameric complex structure of the glutathione transferase (GST) domains shared among the four MSC components, methionyl-tRNA synthetase (MRS), glutaminyl-prolyl-tRNA synthetase (EPRS), AIMP2 and AIMP3
      Title: Assembly of Multi-tRNA Synthetase Complex via Heterotetrameric Glutathione Transferase-homology Domains.
    10. identification of a founder mutation in MARS led to the molecular definition of a specific type of pulmonary alveolar proteinosis and will enable carrier screening in the affected community and possibly open new treatment opportunities.
      Title: Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of methionyl-tRNA synthetase (MARS) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Interaction of HIV-1 Gag with methionyl-tRNA synthetase (MARS) is identified in a series of six affinity purification/mass spectrometry screens PubMed
    matrix gag HIV-1 MA is identified to have a physical interaction with methionyl-tRNA synthetase (MARS) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35667

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methionine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methionine-tRNA ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methionine-tRNA ligase activity TAS
    Traceable Author Statement
    more info
    		  
    enables tRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to epidermal growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to platelet-derived growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in methionyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in methionyl-tRNA aminoacylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in methionyl-tRNA aminoacylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in rRNA transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tRNA aminoacylation for protein translation TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    part_of aminoacyl-tRNA synthetase multienzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of aminoacyl-tRNA synthetase multienzyme complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    methionine--tRNA ligase, cytoplasmic
    Names
    cytosolic methionyl-tRNA synthetase
    NP_004981.2
    XP_047284807.1
    XP_047284808.1
    XP_054228032.1
    XP_054228033.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034077.1 RefSeqGene

      Range
      5116..33700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004990.4 → NP_004981.2  methionine--tRNA ligase, cytoplasmic

      See identical proteins and their annotated locations for NP_004981.2

      Status: REVIEWED

      Source sequence(s)
      BC011849, D84224
      Consensus CDS
      CCDS8942.1
      UniProtKB/Swiss-Prot
      B3KVK7, P56192, Q14895, Q53H14, Q96A15, Q96BZ0, Q9NSE0
      UniProtKB/TrEMBL
      A8K492
      Related
      ENSP00000262027.5, ENST00000262027.10
      Conserved Domains (7) summary
      cd07957
      Location:642 → 771
      Anticodon_Ia_Met; Anticodon-binding domain of methionyl tRNA synthetases
      cd00814
      Location:265 → 633
      MetRS_core; catalytic core domain of methioninyl-tRNA synthetases
      cd10307
      Location:77 → 179
      GST_C_MetRS_N; Glutathione S-transferase C-terminal-like, alpha helical domain of Methionyl-tRNA synthetase from higher eukaryotes
      COG0625
      Location:47 → 189
      GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
      PRK12268
      Location:264 → 819
      PRK12268; methionyl-tRNA synthetase; Reviewed
      cd00939
      Location:845 → 889
      MetRS_RNA; MetRS_RNA binding domain. This short RNA-binding domain is found at the C-terminus of MetRS in several higher eukaryote aminoacyl-tRNA synthetases (aaRSs). It is repeated in Drosophila MetRS. This domain consists of a helix-turn-helix structure, which is ...
      cl00388
      Location:27 → 68
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      57488068..57516652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428852.1 → XP_047284808.1  methionine--tRNA ligase, cytoplasmic isoform X2

      Related
      ENSP00000446168.2, ENST00000537638.6

    2. XM_047428851.1 → XP_047284807.1  methionine--tRNA ligase, cytoplasmic isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      57456360..57484880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372058.1 → XP_054228033.1  methionine--tRNA ligase, cytoplasmic isoform X2

    2. XM_054372057.1 → XP_054228032.1  methionine--tRNA ligase, cytoplasmic isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P56192.2 GenPept UniProtKB/Swiss-Prot:P56192

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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