Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
6.1.1.3
Ligases;
Forming carbon-oxygen bonds;
Ligases forming aminoacyl-tRNA and related compounds;
threonine—tRNA ligase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1WWT | Solution structure of the TGS domain from human threonyl-tRNA synthetase | |
| 4HWT | 2.3 | Crystal structure of human Threonyl-tRNA synthetase bound to a novel inhibitor |
| 4P3N | 2.6 | Structural Basis for Full-Spectrum Inhibition of Threonyl-tRNA Synthetase by Borrelidin 1 |
| 4TTV | 2.8 | Crystal structure of human ThrRS complexing with a bioengineered macrolide BC194 |
| 5XLN | 1.9 | Crystal structure of the TRS_UNE-T and 4EHP complex |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006435 | threonyl-tRNA aminoacylation |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0000049 | tRNA binding |
| Molecular Function | GO:0004829 | threonine-tRNA ligase activity |
| Molecular Function | GO:0008270 | zinc ion binding |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| InterPro
|
InterPro name |
|---|---|
| IPR002314 | Aminoacyl-tRNA synthetase, class II (G/ P/ S/T) |
| IPR002320 | Threonine-tRNA ligase, class IIa |
| IPR004095 | TGS |
| IPR004154 | Anticodon-binding |
| IPR006195 | Aminoacyl-tRNA synthetase, class II |
| IPR012675 | Beta-grasp domain superfamily |
| IPR012676 | TGS-like |
| IPR012947 | Threonyl/alanyl tRNA synthetase, SAD |
| IPR018163 | Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamily |
| IPR033728 | Threonine-tRNA ligase catalytic core domain |
| IPR036621 | Anticodon-binding domain superfamily |
| IPR045864 | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) |
| IPR047246 | Threonine-tRNA ligase, class IIa, anticodon-binding domain |
| Pfam
|
Pfam name |
|---|---|
| PF00587 | tRNA synthetase class II core domain (G, H, P, S and T) |
| PF02824 | TGS domain |
| PF03129 | Anticodon binding domain |
| PF07973 | Threonyl and Alanyl tRNA synthetase second additional domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-379716 | Cytosolic tRNA aminoacylation | Leaf | R-HSA-392499 | Metabolism of proteins |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000133 | Gonadal dysgenesis |
| HP:0000252 | Microcephaly |
| HP:0000278 | Retrognathia |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000316 | Hypertelorism |
| HP:0000320 | Bird-like facies |
| HP:0000411 | Protruding ear |
| HP:0000482 | Microcornea |
| HP:0000483 | Astigmatism |
| HP:0000486 | Strabismus |
| HP:0000509 | Conjunctivitis |
| HP:0000519 | Developmental cataract |
| HP:0000545 | Myopia |
| HP:0000546 | Retinal degeneration |
| HP:0000565 | Esotropia |
| HP:0000601 | Hypotelorism |
| HP:0000608 | Macular degeneration |
| HP:0000613 | Photophobia |
| HP:0000639 | Nystagmus |
| HP:0000656 | Ectropion |
| HP:0000670 | Carious teeth |
| HP:0000938 | Osteopenia |
| HP:0000958 | Dry skin |
| HP:0000964 | Eczema |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0001097 | Keratoconjunctivitis sicca |
| HP:0001197 | Abnormality of prenatal development or birth |
| HP:0001217 | Clubbing |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001276 | Hypertonia |
| HP:0001290 | Generalized hypotonia |
| HP:0001338 | Partial agenesis of the corpus callosum |
| HP:0001363 | Craniosynostosis |
| HP:0001373 | Joint dislocation |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001537 | Umbilical hernia |
| HP:0001598 | Concave nail |
| HP:0001618 | Dysphonia |
| HP:0001629 | Ventricular septal defect |
| HP:0001638 | Cardiomyopathy |
| HP:0001807 | Ridged nail |
| HP:0001808 | Fragile nails |
| HP:0001809 | Split nail |
| HP:0001875 | Neutropenia |
| HP:0001903 | Anemia |
| HP:0002066 | Gait ataxia |
| HP:0002080 | Intention tremor |
| HP:0002119 | Ventriculomegaly |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002197 | Generalized-onset seizure |
| HP:0002209 | Sparse scalp hair |
| HP:0002293 | Alopecia of scalp |
| HP:0002299 | Brittle hair |
| HP:0002562 | Low-set nipples |
| HP:0002705 | High, narrow palate |
| HP:0002719 | Recurrent infections |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002828 | Multiple joint contractures |
| HP:0002860 | Squamous cell carcinoma |
| HP:0002942 | Thoracic kyphosis |
| HP:0003079 | Defective DNA repair after ultraviolet radiation damage |
| HP:0003139 | Panhypogammaglobulinemia |
| HP:0006297 | Enamel hypoplasia |
| HP:0006538 | Recurrent bronchopulmonary infections |
| HP:0006970 | Periventricular leukomalacia |
| HP:0007034 | Generalized hyperreflexia |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007266 | Cerebral dysmyelination |
| HP:0007381 | Congenital exfoliative erythroderma |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma |
| HP:0007485 | Absence of subcutaneous fat |
| HP:0007495 | Prematurely aged appearance |
| HP:0007502 | Follicular hyperkeratosis |
| HP:0007587 | Numerous pigmented freckles |
| HP:0007633 | Bilateral microphthalmos |
| HP:0008064 | Ichthyosis |
| HP:0008386 | Aplasia/Hypoplasia of the nails |
| HP:0008391 | Dystrophic fingernails |
| HP:0008619 | Bilateral sensorineural hearing impairment |
| HP:0009830 | Peripheral neuropathy |
| HP:0010551 | Paraplegia/paraparesis |
| HP:0011001 | Increased bone mineral density |
| HP:0012760 | Reduced social reciprocity |
| HP:0025428 | Bronchospasm |
| HP:0025548 | Increased mean corpuscular hemoglobin concentration |
| HP:0045055 | Tiger tail banding |
| HP:0100275 | Diffuse cerebellar atrophy |
| HP:0410219 | Hypoplasia of mandible relative to maxilla |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| trichothiodystrophy 7, nonphotosensitive | MONDO:0032806 | L67 | chapter12, Diseases of the skin and subcutaneous tissue | OMIM:618546 |