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 ... See more...

Aliases for TARS1 Gene

Aliases for TARS1 Gene

  • Threonyl-TRNA Synthetase 1 2 3 4 5
  • Threonine--TRNA Ligase 1, Cytoplasmic 3 4
  • Threonine TRNA Ligase 1, Cytoplasmic 2 3
  • Threonyl-TRNA Synthetase 2 4
  • EC 6.1.1.3 4 50
  • ThrRS 3 4
  • TARS 3 4
  • Threonyl-TRNA Synthetase, Cytoplasmic 3
  • Threonine--TRNA Ligase, Cytoplasmic 3
  • TARS1 5
  • TTD7 3

External Ids for TARS1 Gene

Previous HGNC Symbols for TARS1 Gene

  • TARS

Summaries for TARS1 Gene

Entrez Gene Summary for TARS1 Gene

  • 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]

GeneCards Summary for TARS1 Gene

TARS1 (Threonyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with TARS1 include Trichothiodystrophy 7, Nonphotosensitive and Trichothiodystrophy. Among its related pathways are tRNA Aminoacylation and Gene Expression. An important paralog of this gene is TARS3.

UniProtKB/Swiss-Prot Summary for TARS1 Gene

  • Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr) (PubMed:25824639, PubMed:31374204). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage (By similarity).

Gene Wiki entry for TARS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TARS1 Gene

Genomics for TARS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TARS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TARS1

Genomic Locations for TARS1 Gene

Latest Assembly
chr5:33,440,696-33,468,091
(GRCh38/hg38)
Size:
27,396 bases
Orientation:
Plus strand

Previous Assembly
chr5:33,440,802-33,468,196
(GRCh37/hg19 by Entrez Gene)
Size:
27,395 bases
Orientation:
Plus strand

chr5:33,440,802-33,469,644
(GRCh37/hg19 by Ensembl)
Size:
28,843 bases
Orientation:
Plus strand

Genomic View for TARS1 Gene

Genes around TARS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TARS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TARS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TARS1 Gene

Proteins for TARS1 Gene

  • Protein details for TARS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26639-SYTC_HUMAN
    Recommended name:
    Threonine--tRNA ligase 1, cytoplasmic
    Protein Accession:
    P26639
    Secondary Accessions:
    • A8K8I1
    • B4DEG8
    • Q96FP5
    • Q9BWA6

    Protein attributes for TARS1 Gene

    Size:
    723 amino acids
    Molecular mass:
    83435 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAB04939.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TARS1 Gene

    Alternative splice isoforms for TARS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TARS1 Gene

Selected DME Specific Peptides for TARS1 Gene

P26639:
  • WKTTPYQ
  • IKDAIGR
  • QLDFQLP
  • LSTRPEK
  • KPMNCPG
  • SPGSCFFLP
  • KNSSTYWEG
  • WHSSAHI
  • HRPRSWRE
  • IENGFYYD
  • SGHWQHY
  • FKYNKFKCRIL
  • GDGAFYGPK
  • WPFWLSPR
  • RIYGISFP
  • WLSPRQVMV
  • TVYRCGPL
  • LCYGPPI
  • RTRDNKVHGE
  • LKPMNCP
  • WEKFQEEAK
  • TIQLDFQ
  • AFYGPKID
  • DLCRGPH
  • RFNLTYV
  • DGDDKKRPVI
  • ENYGGKWP
  • RDHRKIG
  • QDDAHIF
  • HYSENMFSFEVEKE
  • GPHVRHTG
  • DDAHIFC
  • YWEGKAD
  • HRAILGS
  • ADFGVLHR

Post-translational modifications for TARS1 Gene

  • ISGylated.
  • Ubiquitination at Lys5, Lys65, Lys223, Lys243, Lys279, Lys288, Lys504, Lys549, Lys611, Lys636, Lys645, Lys660, Lys681, Lys712, and Lys717
  • Modification sites at PhosphoSitePlus

Domains & Families for TARS1 Gene

Gene Families for TARS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TARS1 Gene

Suggested Antigen Peptide Sequences for TARS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53464, highly similar to Threonyl-tRNA synthetase, cytoplasmic (EC 6.1.1.3) (B4DEG8_HUMAN)
  • TARS protein (Q5M7Z9_HUMAN)
  • Threonine--tRNA ligase (SYTC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P26639

UniProtKB/Swiss-Prot:

SYTC_HUMAN :
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with TARS1: view

Function for TARS1 Gene

Molecular function for TARS1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr) (PubMed:25824639, PubMed:31374204). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonine + tRNA(Thr) = AMP + diphosphate + H(+) + L-threonyl-tRNA(Thr); Xref=Rhea:RHEA:24624, Rhea:RHEA-COMP:9670, Rhea:RHEA-COMP:9704, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57926, ChEBI:CHEBI:78442, ChEBI:CHEBI:78534, ChEBI:CHEBI:456215; EC=6.1.1.3; Evidence={ECO:0000269|PubMed:25824639};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by borrelidin (BN, IC 50 is 7 nM), which binds to 4 distinct subsites in the protein, preventing binding of all 3 substrates (PubMed:25824639).

Enzyme Numbers (IUBMB) for TARS1 Gene

Phenotypes From GWAS Catalog for TARS1 Gene

Gene Ontology (GO) - Molecular Function for TARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004829 threonine-tRNA ligase activity IEA,ISS --
genes like me logo Genes that share ontologies with TARS1: view
genes like me logo Genes that share phenotypes with TARS1: view

Human Phenotype Ontology for TARS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TARS1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TARS1 Gene

Localization for TARS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TARS1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TARS1 gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 4
mitochondrion 3
nucleus 3
plasma membrane 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with TARS1: view

Pathways & Interactions for TARS1 Gene

PathCards logo

SuperPathways for TARS1 Gene

genes like me logo Genes that share pathways with TARS1: view

Pathways by source for TARS1 Gene

1 KEGG pathway for TARS1 Gene

Gene Ontology (GO) - Biological Process for TARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006435 threonyl-tRNA aminoacylation IEA,ISS --
GO:0043039 tRNA aminoacylation IEA --
genes like me logo Genes that share ontologies with TARS1: view

No data available for SIGNOR curated interactions for TARS1 Gene

Drugs & Compounds for TARS1 Gene

(7) Drugs for TARS1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Threonine Approved Nutra Target 40
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0
Borrelidin Pharma Antiangiogenic; inhibits threonyl-tRNA synthetase 0

(4) Additional Compounds for TARS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8

(1) ApexBio Compounds for TARS1 Gene

Compound Action Cas Number
Borrelidin 7184-60-3
genes like me logo Genes that share compounds with TARS1: view

Drug products for research

Transcripts for TARS1 Gene

mRNA/cDNA for TARS1 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TARS1

Alternative Splicing Database (ASD) splice patterns (SP) for TARS1 Gene

No ASD Table

Relevant External Links for TARS1 Gene

GeneLoc Exon Structure for
TARS1

Expression for TARS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TARS1

SOURCE GeneReport for Unigene cluster for TARS1 Gene:

Hs.481860

Evidence on tissue expression from TISSUES for TARS1 Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Kidney(3.4)
  • Liver(3)
  • Skin(3)
  • Heart(2.7)
  • Blood(2.7)
  • Muscle(2.3)
  • Spleen(2.3)
  • Intestine(2.2)
  • Lymph node(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with TARS1: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TARS1 Gene

Orthologs for TARS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TARS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TARS 29 30
  • 99.69 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TARS 30
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TARS 30
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TARS 29 30
  • 91.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TARS 29 30
  • 90.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tars 29
  • 87.48 (n)
Mouse
(Mus musculus)
Mammalia Tars 29 16 30
  • 86.98 (n)
OneToOne
Chicken
(Gallus gallus)
Aves TARS 29 30
  • 79.51 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tars 29
  • 77.37 (n)
Str.1862 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.9104 29
Zebrafish
(Danio rerio)
Actinopterygii tars 29 30
  • 76.35 (n)
OneToOne
wufb07c05 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2257 29
Fruit Fly
(Drosophila melanogaster)
Insecta Aats-thr 29 30
  • 66.92 (n)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008929 29
  • 65.17 (n)
Worm
(Caenorhabditis elegans)
Secernentea tars-1 29 30
  • 61.55 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes THS1 29 30 32
  • 59.08 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05918g 29
  • 58.87 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACL039W 29
  • 58.14 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G26830 29
  • 58.18 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.595 29
Rice
(Oryza sativa)
Liliopsida Os08g0295300 29
  • 58.6 (n)
Os.19842 29
Barley
(Hordeum vulgare)
Liliopsida Hv.6106 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 66 (a)
ManyToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes trs1 29
  • 57.32 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02380 29
  • 56.85 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.10053 29
Species where no ortholog for TARS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TARS1 Gene

ENSEMBL:
Gene Tree for TARS1 (if available)
TreeFam:
Gene Tree for TARS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TARS1: view image
Alliance of Genome Resources:
Additional Orthologs for TARS1

Paralogs for TARS1 Gene

Paralogs for TARS1 Gene

genes like me logo Genes that share paralogs with TARS1: view

Variants for TARS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TARS1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs11541416 Benign: not provided 33,453,311(+) G/A
NM_001258438.1(TARS1):c.451G>A (p.Val151Ile)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs138936240 Benign: not provided 33,462,107(+) G/A
NM_001258438.1(TARS1):c.1838G>A (p.Gly613Asp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs144381018 Benign: not provided 33,455,016(+) C/T
NM_001258438.1(TARS1):c.624C>T (p.Tyr208=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs146538659 Benign: not provided 33,448,633(+) A/C
NM_001258438.1(TARS1):c.231A>C (p.Glu77Asp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1579584983 Pathogenic: Trichothiodystrophy 7, nonphotosensitive 33,455,691(+) T/C
NM_152295.4(TARS1):c.680T>C (p.Leu227Pro)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TARS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TARS1 Gene

Variant ID Type Subtype PubMed ID
dgv699n27 CNV gain 19166990
dgv9716n54 CNV gain 21841781
esv2762514 CNV gain 21179565
esv3604646 CNV gain 21293372
nsv471010 CNV gain 18288195
nsv522715 CNV gain 19592680

Variation tolerance for TARS1 Gene

Residual Variation Intolerance Score: 91.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.94; 67.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TARS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TARS1
Leiden Open Variation Database (LOVD)
TARS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TARS1 Gene

Disorders for TARS1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TARS1 Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
trichothiodystrophy 7, nonphotosensitive
  • ttd7
trichothiodystrophy
  • amish brittle hair syndrome
antisynthetase syndrome
  • anti-jo1 syndrome
myositis
  • myopathy, familial idiopathic inflammatory; iim
polymyositis
- elite association - COSMIC cancer census association via MalaCards
Search TARS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYTC_HUMAN
  • Trichothiodystrophy 7, non-photosensitive (TTD7) [MIM:618546]: A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD7 patients do not manifest cutaneous photosensitivity. They have cysteine- and threonine-deficient hair with alternating light and dark 'tiger-tail' banding pattern observed under polarization microscopy. Inheritance pattern is autosomal recessive. {ECO:0000269 PubMed:31374204}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TARS1

genes like me logo Genes that share disorders with TARS1: view

No data available for Genatlas for TARS1 Gene

Publications for TARS1 Gene

  1. Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. (PMID: 31374204) Theil AF … Orioli D (American journal of human genetics 2019) 3 4 72
  2. Nucleotide and deduced amino acid sequence of human threonyl-tRNA synthetase reveals extensive homology to the Escherichia coli and yeast enzymes. (PMID: 2033077) Cruzen ME … Arfin SM (The Journal of biological chemistry 1991) 3 4 22
  3. Structural basis for full-spectrum inhibition of translational functions on a tRNA synthetase. (PMID: 25824639) Fang P … Guo M (Nature communications 2015) 3 4
  4. Proteomic identification of proteins conjugated to ISG15 in mouse and human cells. (PMID: 16139798) Giannakopoulos NV … Zhang DE (Biochemical and biophysical research communications 2005) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for TARS1 Gene

Sources for TARS1 Gene