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    TARS1 threonyl-tRNA synthetase 1 [ Homo sapiens (human) ]

    Gene ID: 6897, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TARS1provided by HGNC
    Official Full Name
    threonyl-tRNA synthetase 1provided by HGNC
    Primary source
    HGNC:HGNC:11572
    See related
    Ensembl:ENSG00000113407 MIM:187790; AllianceGenome:HGNC:11572
    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
    TARS; TTD7; ThrRS
    Summary
    Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 23.8), esophagus (RPKM 20.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TARS1 in Genome Data Viewer
    Location:
    5p13.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (33440696..33468091)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (33555295..33582692)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (33440802..33468196)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene translation machinery-associated protein 7-like Neighboring gene Sharpr-MPRA regulatory region 14601 Neighboring gene TARS1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15962 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:33440417-33441004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22454 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:33441593-33442179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22455 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:33447877-33448390 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:33448391-33448904 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:33460526-33461725 Neighboring gene NANOG hESC enhancer GRCh37_chr5:33482334-33483024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:33488491-33488992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:33488993-33489492 Neighboring gene TOMM40 pseudogene 3 Neighboring gene uncharacterized LOC105374717

    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
    • 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. A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants. Meyer-Schuman R, et al. HGG Adv, 2024 Jul 18. PMID 38956874, Free PMC Article
    2. Isolation of a cDNA clone for human threonyl-tRNA synthetase: amplification of the structural gene in borrelidin-resistant cell lines. Kontis KJ, et al. Mol Cell Biol, 1989 May. PMID 2747635, Free PMC Article
    3. Threonyl-tRNA synthetase gene maps close to leucyl-tRNA synthetase gene on human chromosome 5. Gerken SC, et al. Somat Cell Mol Genet, 1986 Sep. PMID 3464105
    4. Purification and subunit structure studies of human placental threonyl-tRNA synthetase. Pan F, et al. Int J Pept Protein Res, 1982 Mar. PMID 7118399
    5. Kinetic mechanism of threonyl-tRNA synthetase from human placenta. Pan F, et al. Int J Pept Protein Res, 1982 Aug. PMID 7118437

    See all (134) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants.
      Title: A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants.
    2. Contribution of upregulated aminoacyl-tRNA biosynthesis to metabolic dysregulation in gastric cancer.
      Title: Contribution of upregulated aminoacyl-tRNA biosynthesis to metabolic dysregulation in gastric cancer.
    3. Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
      Title: Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
    4. This work highlights the functional significance of aminoacyl-tRNA synthetases in the emergence and control of higher order organisms.
      Title: A threonyl-tRNA synthetase-mediated translation initiation machinery.
    5. Threonyl-tRNA synthetase regulates MUC1 biosynthesis and is associated with pancreatic cancer cell migration.
      Title: Inhibition of MUC1 biosynthesis via threonyl-tRNA synthetase suppresses pancreatic cancer cell migration.
    6. Results show that TARS expression is increased in epithelial ovarian cancer.
      Title: Threonyl-tRNA synthetase overexpression correlates with angiogenic markers and progression of human ovarian cancer.
    7. Our series mainly underscores that interstitial lung disease is frequent in anti-PL7(tars antibody)patients, leading to high morbidity.
      Title: Clinical manifestations and outcome of anti-PL7 positive patients with antisynthetase syndrome.
    8. A previously undiscovered function for TARS as an angiogenic, pro-migratory extracellular signaling molecule.
      Title: Secreted Threonyl-tRNA synthetase stimulates endothelial cell migration and angiogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Trichothiodystrophy 7, nonphotosensitive
    MedGen: C5231403 OMIM: 618546 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    matrix gag HIV-1 MA is identified to have a physical interaction with threonyl-tRNA synthetase (TARS) 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

    • MGC9344

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables threonine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables threonine-tRNA ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables threonine-tRNA ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in threonyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in threonyl-tRNA aminoacylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in threonyl-tRNA aminoacylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    threonine--tRNA ligase 1, cytoplasmic
    Names
    threonine tRNA ligase 1, cytoplasmic
    threonine--tRNA ligase, cytoplasmic
    threonyl-tRNA synthetase, cytoplasmic
    NP_001245366.1
    NP_001245367.1
    NP_689508.3

    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.

    mRNA and Protein(s)

    1. NM_001258437.1 → NP_001245366.1  threonine--tRNA ligase 1, cytoplasmic isoform 1

      See identical proteins and their annotated locations for NP_001245366.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC025441, AK292346, BG183397
      Consensus CDS
      CCDS3899.1
      UniProtKB/Swiss-Prot
      A8K8I1, B4DEG8, P26639, Q96FP5, Q9BWA6
      UniProtKB/TrEMBL
      Q53GX7
      Related
      ENSP00000424387.1, ENST00000502553.5
      Conserved Domains (1) summary
      PLN02908
      Location:44 → 716
      PLN02908; threonyl-tRNA synthetase

    2. NM_001258438.2 → NP_001245367.1  threonine--tRNA ligase 1, cytoplasmic isoform 2

      See identical proteins and their annotated locations for NP_001245367.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate in-frame exon compared to variant 1. The resulting protein (isoform 2) is longer compared to isoform 1.
      Source sequence(s)
      AC025441, AC034231, AK293620
      Consensus CDS
      CCDS58943.1
      UniProtKB/TrEMBL
      Q53GX7
      Related
      ENSP00000387710.2, ENST00000455217.6
      Conserved Domains (1) summary
      PLN02908
      Location:44 → 749
      PLN02908; threonyl-tRNA synthetase

    3. NM_152295.5 → NP_689508.3  threonine--tRNA ligase 1, cytoplasmic isoform 1

      See identical proteins and their annotated locations for NP_689508.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the smaller protein (isoform 1). Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC025441, AW246273, BC000517
      Consensus CDS
      CCDS3899.1
      UniProtKB/Swiss-Prot
      A8K8I1, B4DEG8, P26639, Q96FP5, Q9BWA6
      UniProtKB/TrEMBL
      Q53GX7
      Related
      ENSP00000265112.3, ENST00000265112.8
      Conserved Domains (1) summary
      PLN02908
      Location:44 → 716
      PLN02908; threonyl-tRNA synthetase

    RNA

    1. NR_047676.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC025441, AC034231, AK308342

    2. NR_047677.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon and uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC025441, AC034231, AK296783, KF510921
      Related
      ENST00000507716.5

    3. NR_047678.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC025441, AK095852
      Related
      ENST00000508361.5

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      33440696..33468091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      33555295..33582692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26639.3 GenPept UniProtKB/Swiss-Prot:P26639

    Gene LinkOut

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

    Chemical Information
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