Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
6.1.1.4
Ligases;
Forming carbon-oxygen bonds;
Ligases forming aminoacyl-tRNA and related compounds;
leucine—tRNA ligase
| PDB | Resolution (Å) | PDB name |
|---|
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 |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0002161 | aminoacyl-tRNA editing activity |
| Molecular Function | GO:0004823 | leucine-tRNA ligase activity |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| 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 |
| Pfam
|
Pfam name |
|---|---|
| PF00133 | tRNA synthetases class I (I, L, M and V) |
| PF08264 | Anticodon-binding domain of tRNA ligase |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-379726 | Mitochondrial tRNA aminoacylation | Leaf | R-HSA-392499 | Metabolism of proteins |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion matrix | ECO:0000250 |
| 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 |
| HP:0000869 | Secondary amenorrhea |
| HP:0000876 | Oligomenorrhea |
| HP:0000939 | Osteoporosis |
| HP:0001250 | Seizure |
| HP:0001270 | Motor delay |
| HP:0001410 | Decreased liver function |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001513 | Obesity |
| HP:0001518 | Small for gestational age |
| HP:0001519 | Disproportionate tall stature |
| HP:0001541 | Ascites |
| HP:0001562 | Oligohydramnios |
| HP:0001629 | Ventricular septal defect |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001790 | Nonimmune hydrops fetalis |
| HP:0001873 | Thrombocytopenia |
| HP:0001903 | Anemia |
| HP:0001924 | Sideroblastic anemia |
| HP:0001942 | Metabolic acidosis |
| HP:0001978 | Extramedullary hematopoiesis |
| HP:0002066 | Gait ataxia |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002093 | Respiratory insufficiency |
| HP:0002151 | Increased serum lactate |
| HP:0002353 | EEG abnormality |
| HP:0002623 | Overriding aorta |
| HP:0002967 | Cubitus valgus |
| HP:0003073 | Hypoalbuminemia |
| HP:0003128 | Lactic acidosis |
| HP:0003577 | Congenital onset |
| HP:0005518 | Increased mean corpuscular volume |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0008214 | Decreased serum estradiol |
| HP:0008724 | Hypoplasia of the ovary |
| HP:0011706 | Second degree atrioventricular block |
| HP:0012132 | Erythroid hyperplasia |
| HP:0025643 | Tarlov cyst |
| HP:0025671 | Fetal pericardial effusion |
| HP:0030674 | Antenatal onset |
| HP:0100543 | Cognitive impairment |
| 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 |
| bronchus | ciliated cells (tip of cilia) | High | Approved |
| bronchus | goblet cells | Low | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | Low | Approved |
| cerebellum | Purkinje cells | Medium | Approved |
| cerebellum | cells in granular layer | Low | Approved |
| cerebellum | cells in molecular layer | Low | Approved |
| cerebral cortex | endothelial cells | Low | Approved |
| cerebral cortex | glial cells | Low | Approved |
| cerebral cortex | neuronal cells | Low | Approved |
| cerebral cortex | neuropil | Medium | Approved |
| cervix | glandular cells | Low | Approved |
| cervix | squamous epithelial cells | Low | Approved |
| colon | endothelial cells | Medium | Approved |
| colon | glandular cells | Medium | Approved |
| colon | peripheral nerve/ganglion | Medium | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | cells in endometrial stroma | Medium | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | cells in endometrial stroma | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | ciliated cells (cell body) | Medium | Approved |
| fallopian tube | ciliated cells (ciliary rootlets) | Medium | Approved |
| fallopian tube | ciliated cells (tip of cilia) | Medium | Approved |
| fallopian tube | non-ciliated cells | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | Low | Approved |
| kidney | cells in glomeruli | Low | Approved |
| kidney | cells in tubules | Medium | Approved |
| liver | cholangiocytes | Medium | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | alveolar cells | Medium | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Medium | Approved |
| lymph node | non-germinal center cells | Low | Approved |
| nasopharynx | basal cells | Medium | Approved |
| nasopharynx | ciliated cells (cell body) | Medium | Approved |
| nasopharynx | ciliated cells (cilia axoneme) | High | Approved |
| nasopharynx | ciliated cells (tip of cilia) | High | Approved |
| nasopharynx | goblet cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| ovary | follicle cells | Low | Approved |
| ovary | ovarian stroma cells | Low | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | decidual cells | Medium | Approved |
| placenta | trophoblastic cells | Medium | Approved |
| prostate | glandular cells | Medium | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Medium | Approved |
| seminal vesicle | glandular cells | Low | Approved |
| skeletal muscle | myocytes | Low | Approved |
| skin 1 | Langerhans | Low | Approved |
| skin 1 | fibroblasts | Low | Approved |
| skin 1 | keratinocytes | Medium | Approved |
| skin 1 | melanocytes | Low | Approved |
| skin 2 | epidermal cells | Medium | Approved |
| small intestine | glandular cells | Medium | Approved |
| smooth muscle | smooth muscle cells | Medium | Approved |
| soft tissue 1 | chondrocytes | Medium | Approved |
| soft tissue 1 | fibroblasts | Low | Approved |
| soft tissue 1 | peripheral nerve | Low | Approved |
| soft tissue 2 | chondrocytes | Low | Approved |
| soft tissue 2 | fibroblasts | Low | Approved |
| soft tissue 2 | peripheral nerve | Low | Approved |
| spleen | cells in red pulp | Low | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | germinal center cells | Medium | Approved |
| tonsil | non-germinal center cells | Medium | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| 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 | |
| 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 |