Structure
GO term
GO ontology
| GO term | GO description |
|---|---|---|
| Biological Process | GO:0006429 | leucyl-tRNA aminoacylation |
| Biological Process | GO:0032543 | mitochondrial translation |
| Biological Process | GO:0006418 | tRNA aminoacylation for protein translation |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0002161 | aminoacyl-tRNA editing activity |
| Molecular Function | GO:0004823 | leucine-tRNA ligase activity |
Showing 1 to 8 of 8 entries
InterPro / Pfam
| InterPro
| InterPro name |
|---|---|
| IPR001412 | Aminoacyl-tRNA synthetase, class I, conserved site |
| IPR002300 | Aminoacyl-tRNA synthetase, class Ia |
| IPR002302 | Leucine-tRNA ligase |
| IPR009008 | Valyl/Leucyl/Isoleucyl-tRNA synthetase, editing domain |
| IPR009080 | Aminoacyl-tRNA synthetase, class Ia, anticodon-binding |
| IPR013155 | Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding |
| IPR014729 | Rossmann-like alpha/beta/alpha sandwich fold |
Showing 1 to 7 of 7 entries
Reactome
| Reactome
| Reactome Name | Node type
| Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-379726 | Mitochondrial tRNA aminoacylation | Leaf | R-HSA-392499 | Metabolism of proteins |
Showing 1 to 1 of 1 entries
Subcellular location
Interactor | Variant | Drug
Phenotype
| HPO ID
| HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000013 | Hypoplasia of the uterus |
| HP:0000175 | Cleft palate |
| HP:0000408 | Progressive sensorineural hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000786 | Primary amenorrhea |
| HP:0000790 | Hematuria |
| HP:0000813 | Bicornuate uterus |
| HP:0000822 | Hypertension |
| HP:0000837 | Increased circulating gonadotropin level |
Showing 1 to 10 of 50 entries
Tissue and cell type
| Tissue
| Cell type
| Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Approved |
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Medium | Approved |
| appendix | lymphoid tissue | Medium | Approved |
| bone marrow | hematopoietic cells | Low | Approved |
| breast | adipocytes | Low | Approved |
| breast | myoepithelial cells | Low | Approved |
| bronchus | basal cells | Low | Approved |
| bronchus | ciliated cells (cell body) | Low | Approved |
| bronchus | ciliated cells (ciliary rootlets) | Medium | Approved |
Showing 1 to 10 of 92 entries
Disease
| Disease name | MONDO ID
| ICD10
| ICD10 chapter
| OMIM
| Orphanet
|
|---|---|---|---|---|---|
| hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | MONDO:0014869 | E70 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:617021 | Orphanet:528091 |
| hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | MONDO:0014869 | E88 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:617021 | Orphanet:528091 |
| inborn mitochondrial myopathy | MONDO:0009637 | G71 | chapter6, Diseases of the nervous system | Orphanet:206966 | |
| perrault syndrome 4 | MONDO:0014126 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:615300 |
Showing 1 to 4 of 4 entries