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GeneE
16 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TARS1
threonyl-tRNA synthetase 1
Chromosome 5 Β· 5p13.3
NCBI Gene: 6897Ensembl: ENSG00000113407.15HGNC: HGNC:11572UniProt: P26639
152PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
threonyl-tRNA aminoacylationthreonine-tRNA ligase activityprotein bindingextracellular exosometrichothiodystrophy 7, nonphotosensitivetrichothiodystrophyactinic keratosisovarian dysfunction
✦AI Summary

TARS1 (threonyl-tRNA synthetase 1) is a cytoplasmic enzyme that catalyzes the aminoacylation of threonine to tRNA(Thr) through a two-step ATP-dependent reaction, forming Thr-AMP before transfer to the tRNA acceptor end 12. Beyond its canonical translational role, TARS1 functions in gene expression regulation, cell signaling, angiogenesis, and inflammatory responses through non-canonical mechanisms 3. Notably, TARS1 activates the oncogenic transcription factor STAT3 independent of its catalytic activity by serving as a scaffold protein that promotes JAK-STAT3 proximity and phosphorylation, with elevated TARS1 expression correlating with poor survival in lung cancer 4. Loss-of-function TARS1 variants cause recessive phenotypes including brittle hair and multi-tissue involvement affecting the nervous system, lungs, and skin, as demonstrated in compound heterozygous mouse models 56. TARS1 has been identified as a candidate salivary biomarker in temporomandibular joint osteoarthritis 7. These findings establish TARS1 as a multifunctional protein with both essential translational roles and emergent non-canonical functions in disease pathogenesis.

Sources cited
1
TARS1 catalyzes attachment of threonine to tRNA(Thr) through ATP-dependent two-step reaction
PMID: 25824639
2
TARS1 catalyzes attachment of threonine to tRNA(Thr) through ATP-dependent two-step reaction
PMID: 31374204
3
TARS1 has non-translational functions in gene expression, cell signaling, angiogenesis, inflammatory responses, and tumorigenesis
PMID: 38477373
4
TARS1 activates STAT3 through non-translational scaffold mechanism involving JAK interaction, and elevated TARS1 correlates with poor lung cancer survival
PMID: 41380973
5
TARS1 loss-of-function variants cause recessive brittle hair phenotype with lung and skin defects in mouse model
PMID: 38956874
6
TARS1 loss-of-function variants affect nervous system, liver, and lungs with clinical heterogeneity
PMID: 38585737
7
TARS1 identified as candidate salivary biomarker in temporomandibular joint osteoarthritis patients
PMID: 41898587
Disease Associationsβ“˜21
trichothiodystrophy 7, nonphotosensitiveOpen Targets
0.52Moderate
trichothiodystrophyOpen Targets
0.40Moderate
actinic keratosisOpen Targets
0.35Weak
ovarian dysfunctionOpen Targets
0.30Weak
nervous system benign neoplasmOpen Targets
0.25Weak
infectious meningitisOpen Targets
0.23Weak
dyshidrosisOpen Targets
0.21Weak
Abruptio PlacentaeOpen Targets
0.19Weak
trichothiodystrophy 4, nonphotosensitiveOpen Targets
0.18Weak
hair colorOpen Targets
0.17Weak
benign prostatic hyperplasiaOpen Targets
0.15Weak
cervical carcinomaOpen Targets
0.15Weak
breast cancerOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
ApneaOpen Targets
0.07Suggestive
endometrial cancerOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
severe acute respiratory syndromeOpen Targets
0.03Suggestive
Trichothiodystrophy 7, non-photosensitiveUniProt
Pathogenic Variants5
NM_152295.5(TARS1):c.1829dup (p.Lys611fs)Likely pathogenic
Trichothiodystrophy 7, nonphotosensitive
β˜…β˜†β˜†β˜†2025β†’ Residue 611
NM_152295.5(TARS1):c.1820del (p.Asn607fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 607
NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter)Pathogenic
Trichothiodystrophy 7, nonphotosensitive
β˜†β˜†β˜†β˜†2019β†’ Residue 638
NM_152295.5(TARS1):c.826A>G (p.Lys276Glu)Pathogenic
Trichothiodystrophy 7, nonphotosensitive
β˜†β˜†β˜†β˜†2019β†’ Residue 276
NM_152295.5(TARS1):c.680T>C (p.Leu227Pro)Pathogenic
Trichothiodystrophy 7, nonphotosensitive
β˜†β˜†β˜†β˜†2019β†’ Residue 227
View on ClinVar β†—
Related Genes
DARS2Shared pathway100%LARS1Protein interaction100%AIMP1Protein interaction100%RPS14Protein interaction99%LARS2Protein interaction98%IARS2Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Liver
76%
Heart
71%
Bone Marrow
62%
Lung
46%
Ovary
27%
Gene Interaction Network
Click a node to explore
TARS1DARS2LARS1AIMP1RPS14LARS2IARS2
PROTEIN STRUCTURE
Preparing viewer…
PDB5XLN Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.56 [0.45–0.71]
RankingsWhere TARS1 stands among ~20K protein-coding genes
  • #2,981of 20,598
    Most Researched152 Β· top quartile
  • #3,498of 5,498
    Most Pathogenic Variants5
  • #5,404of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedTARS1
Sources retrieved16 papers
Response timeβ€”
πŸ“„ Sources
16β–Ό
1
Beyond protein synthesis: non-translational functions of threonyl-tRNA synthetases.
PMID: 38477373
Biochem Soc Trans Β· 2024
1.00
2
Threonyl-tRNA synthetase activates STAT3 by a nontranslational mechanism.
PMID: 41380973
J Biol Chem Β· 2026
0.90
3
A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants.
PMID: 38956874
HGG Adv Β· 2024
0.80
4
Predictive modeling provides insight into the clinical heterogeneity associated with
PMID: 38585737
bioRxiv Β· 2024
0.70
5
Rat cytotoxic T lymphocytes against human T-lymphotropic virus type 1-infected cells recognize gag gene and env gene encoded antigens.
PMID: 2479689
J Immunol Β· 1989
0.60