Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
6.1.1.22
Ligases;
Forming carbon-oxygen bonds;
Ligases forming aminoacyl-tRNA and related compounds;
asparagine—tRNA ligase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006421 | asparaginyl-tRNA aminoacylation |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0004816 | asparagine-tRNA ligase activity |
| Molecular Function | GO:0003676 | nucleic acid binding |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005654 | nucleoplasm |
| InterPro
|
InterPro name |
|---|---|
| IPR002312 | Aspartyl/Asparaginyl-tRNA synthetase, class IIb |
| IPR004364 | Aminoacyl-tRNA synthetase, class II (D/K/N) |
| IPR004365 | OB-fold nucleic acid binding domain, AA-tRNA synthetase-type |
| IPR004522 | Asparagine-tRNA ligase |
| IPR006195 | Aminoacyl-tRNA synthetase, class II |
| IPR012340 | Nucleic acid-binding, OB-fold |
| IPR045864 | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) |
| Pfam
|
Pfam name |
|---|---|
| PF00152 | tRNA synthetases class II (D, K and N) |
| PF01336 | OB-fold nucleic acid binding domain |
| 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 | ECO:0000269 | PubMed:25807530 |
| Mitochondrion | ECO:0000269 | PubMed:35558980 |
| Mitochondrion matrix | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0000252 | Microcephaly |
| HP:0000343 | Long philtrum |
| HP:0000365 | Hearing impairment |
| HP:0000463 | Anteverted nares |
| HP:0000508 | Ptosis |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001272 | Cerebellar atrophy |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001284 | Areflexia |
| HP:0001290 | Generalized hypotonia |
| HP:0001324 | Muscle weakness |
| HP:0001347 | Hyperreflexia |
| HP:0001488 | Bilateral ptosis |
| HP:0001751 | Abnormal vestibular function |
| HP:0001944 | Dehydration |
| HP:0002013 | Vomiting |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002133 | Status epilepticus |
| HP:0002151 | Increased serum lactate |
| HP:0002171 | Gliosis |
| HP:0002180 | Neurodegeneration |
| HP:0002376 | Developmental regression |
| HP:0002490 | Increased CSF lactate |
| HP:0002521 | Hypsarrhythmia |
| HP:0002529 | Neuronal loss in central nervous system |
| HP:0002714 | Downturned corners of mouth |
| HP:0003074 | Hyperglycemia |
| HP:0003196 | Short nose |
| HP:0003198 | Myopathy |
| HP:0003200 | Ragged-red muscle fibers |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003388 | Easy fatigability |
| HP:0003429 | CNS hypomyelination |
| HP:0003593 | Infantile onset |
| HP:0003701 | Proximal muscle weakness |
| HP:0005487 | Prominent metopic ridge |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0008619 | Bilateral sensorineural hearing impairment |
| HP:0008936 | Axial hypotonia |
| HP:0009830 | Peripheral neuropathy |
| HP:0009894 | Thickened ears |
| HP:0011342 | Mild global developmental delay |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0011968 | Feeding difficulties |
| HP:0030057 | Autoimmune antibody positivity |
| HP:0030319 | Weakness of facial musculature |
| HP:0040025 | Clinodactyly of the 4th finger |
| HP:0040217 | Elevated hemoglobin A1c |
| HP:0100704 | Cerebral visual impairment |
| HP:0200114 | Metabolic alkalosis |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Supported |
| adrenal gland | glandular cells | High | Supported |
| appendix | glandular cells | High | Supported |
| appendix | lymphoid tissue | Medium | Supported |
| bone marrow | hematopoietic cells | Medium | Supported |
| breast | adipocytes | High | Supported |
| breast | glandular cells | High | Supported |
| breast | myoepithelial cells | High | Supported |
| bronchus | respiratory epithelial cells | Medium | Supported |
| caudate | glial cells | Low | Supported |
| caudate | neuronal cells | Medium | Supported |
| cerebellum | Purkinje cells | Medium | Supported |
| cerebellum | cells in granular layer | Medium | Supported |
| cerebellum | cells in molecular layer | Medium | Supported |
| cerebral cortex | endothelial cells | Medium | Supported |
| cerebral cortex | glial cells | Low | Supported |
| cerebral cortex | neuronal cells | Medium | Supported |
| cerebral cortex | neuropil | Low | Supported |
| cervix | glandular cells | Medium | Supported |
| cervix | squamous epithelial cells | Medium | Supported |
| colon | endothelial cells | High | Supported |
| colon | glandular cells | High | Supported |
| colon | peripheral nerve/ganglion | High | Supported |
| duodenum | glandular cells | High | Supported |
| endometrium 1 | cells in endometrial stroma | Medium | Supported |
| endometrium 1 | glandular cells | Medium | Supported |
| endometrium 2 | glandular cells | Medium | Supported |
| epididymis | glandular cells | High | Supported |
| esophagus | squamous epithelial cells | High | Supported |
| fallopian tube | glandular cells | High | Supported |
| gallbladder | glandular cells | High | Supported |
| heart muscle | cardiomyocytes | Medium | Supported |
| hippocampus | glial cells | Low | Supported |
| hippocampus | neuronal cells | Low | Supported |
| kidney | cells in glomeruli | Medium | Supported |
| kidney | cells in tubules | High | Supported |
| liver | cholangiocytes | Medium | Supported |
| liver | hepatocytes | High | Supported |
| lung | alveolar cells type I | Medium | Supported |
| lung | alveolar cells type II | Low | Supported |
| lung | endothelial cells | Low | Supported |
| lymph node | germinal center cells | Medium | Supported |
| lymph node | non-germinal center cells | High | Supported |
| nasopharynx | respiratory epithelial cells | Medium | Supported |
| oral mucosa | squamous epithelial cells | Medium | Supported |
| ovary | follicle cells | Medium | Supported |
| ovary | ovarian stroma cells | Low | Supported |
| pancreas | exocrine glandular cells | Medium | Supported |
| parathyroid gland | glandular cells | High | Supported |
| placenta | decidual cells | High | Supported |
| placenta | trophoblastic cells | High | Supported |
| prostate | glandular cells | Medium | Supported |
| rectum | glandular cells | High | Supported |
| salivary gland | glandular cells | Medium | Supported |
| seminal vesicle | glandular cells | High | Supported |
| skeletal muscle | myocytes | Medium | Supported |
| skin 1 | Langerhans | Medium | Supported |
| skin 1 | fibroblasts | High | Supported |
| skin 1 | keratinocytes | Medium | Supported |
| skin 1 | melanocytes | Medium | Supported |
| skin 2 | epidermal cells | Medium | Supported |
| small intestine | glandular cells | High | Supported |
| smooth muscle | smooth muscle cells | Medium | Supported |
| soft tissue 1 | chondrocytes | Medium | Supported |
| soft tissue 1 | fibroblasts | High | Supported |
| soft tissue 1 | peripheral nerve | Medium | Supported |
| soft tissue 2 | chondrocytes | Medium | Supported |
| soft tissue 2 | fibroblasts | High | Supported |
| soft tissue 2 | peripheral nerve | Medium | Supported |
| spleen | cells in red pulp | Low | Supported |
| spleen | cells in white pulp | Medium | Supported |
| stomach 1 | glandular cells | High | Supported |
| stomach 2 | glandular cells | Medium | Supported |
| testis | Leydig cells | High | Supported |
| testis | elongated or late spermatids | Medium | Supported |
| testis | pachytene spermatocytes | Medium | Supported |
| testis | round or early spermatids | Medium | Supported |
| testis | sertoli cells | Medium | Supported |
| testis | spermatogonia cells | High | Supported |
| thyroid gland | glandular cells | Medium | Supported |
| tonsil | germinal center cells | Medium | Supported |
| tonsil | non-germinal center cells | High | Supported |
| tonsil | squamous epithelial cells | High | Supported |
| urinary bladder | urothelial cells | Medium | Supported |
| vagina | squamous epithelial cells | Medium | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| combined oxidative phosphorylation defect type 24 | MONDO:0014547 | G71 | chapter6, Diseases of the nervous system | OMIM:616239 | Orphanet:444458 |
| hearing loss, autosomal recessive 94 | MONDO:0032749 | H90 | chapter8, Diseases of the ear and mastoid process | OMIM:618434 |