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
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006421 | asparaginyl-tRNA aminoacylation |
| Biological Process | GO:0016477 | cell migration |
| Biological Process | GO:0021987 | cerebral cortex development |
| Biological Process | GO:0006418 | tRNA aminoacylation for protein translation |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0031728 | CCR3 chemokine receptor binding |
| Molecular Function | GO:0004816 | asparagine-tRNA ligase activity |
| Molecular Function | GO:0003676 | nucleic acid binding |
| Molecular Function | GO:0046983 | protein dimerization activity |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| 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-379716 | Cytosolic tRNA aminoacylation | Leaf | R-HSA-392499 | Metabolism of proteins |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000305 | PubMed:9421509 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000278 | Retrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000337 | Broad forehead |
| HP:0000369 | Low-set ears |
| HP:0000396 | Overfolded helix |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000601 | Hypotelorism |
| HP:0000687 | Widely spaced teeth |
| HP:0000733 | Abnormal repetitive mannerisms |
| HP:0000750 | Delayed speech and language development |
| HP:0000767 | Pectus excavatum |
| HP:0001159 | Syndactyly |
| HP:0001166 | Arachnodactyly |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001276 | Hypertonia |
| HP:0001290 | Generalized hypotonia |
| HP:0001302 | Pachygyria |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001347 | Hyperreflexia |
| HP:0001371 | Flexion contracture |
| HP:0001761 | Pes cavus |
| HP:0002066 | Gait ataxia |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002188 | Delayed CNS myelination |
| HP:0002265 | Large fleshy ears |
| HP:0002650 | Scoliosis |
| HP:0002942 | Thoracic kyphosis |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0007359 | Focal-onset seizure |
| HP:0009830 | Peripheral neuropathy |
| HP:0010830 | Impaired tactile sensation |
| HP:0012430 | Cerebral white matter hypoplasia |
| HP:0012444 | Brain atrophy |
| HP:0012766 | Widened cerebral subarachnoid space |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset |
| HP:0025336 | Delayed ability to sit |
| HP:0030084 | Clinodactyly |
| HP:0031936 | Delayed ability to walk |
| HP:0032794 | Myoclonic seizure |
| HP:0100702 | Arachnoid cyst |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Enhanced |
| adrenal gland | glandular cells | Medium | Enhanced |
| appendix | glandular cells | High | Enhanced |
| appendix | lymphoid tissue | Medium | Enhanced |
| bone marrow | hematopoietic cells | Medium | Enhanced |
| breast | adipocytes | Low | Enhanced |
| breast | glandular cells | Medium | Enhanced |
| breast | myoepithelial cells | Medium | Enhanced |
| bronchus | basal cells | Medium | Enhanced |
| bronchus | ciliated cells (cell body) | Medium | Enhanced |
| bronchus | goblet cells | Medium | Enhanced |
| caudate | glial cells | Low | Enhanced |
| caudate | neuronal cells | Medium | Enhanced |
| cerebellum | Purkinje cells | High | Enhanced |
| cerebellum | cells in granular layer | Low | Enhanced |
| cerebellum | cells in molecular layer | Medium | Enhanced |
| cerebral cortex | endothelial cells | Low | Enhanced |
| cerebral cortex | glial cells | Medium | Enhanced |
| cerebral cortex | neuronal cells | Medium | Enhanced |
| cerebral cortex | neuropil | Low | Enhanced |
| cervix | squamous epithelial cells | Medium | Enhanced |
| colon | endothelial cells | Medium | Enhanced |
| colon | glandular cells | High | Enhanced |
| colon | peripheral nerve/ganglion | Low | Enhanced |
| duodenum | glandular cells | Medium | Enhanced |
| endometrium 1 | cells in endometrial stroma | Low | Enhanced |
| endometrium 1 | glandular cells | Medium | Enhanced |
| endometrium 2 | cells in endometrial stroma | Low | Enhanced |
| endometrium 2 | glandular cells | Low | Enhanced |
| epididymis | glandular cells | Medium | Enhanced |
| esophagus | squamous epithelial cells | Medium | Enhanced |
| fallopian tube | ciliated cells (cell body) | Medium | Enhanced |
| fallopian tube | ciliated cells (ciliary rootlets) | Medium | Enhanced |
| fallopian tube | ciliated cells (tip of cilia) | Low | Enhanced |
| fallopian tube | non-ciliated cells | Medium | Enhanced |
| gallbladder | glandular cells | High | Enhanced |
| heart muscle | cardiomyocytes | Low | Enhanced |
| hippocampus | glial cells | Low | Enhanced |
| hippocampus | neuronal cells | Medium | Enhanced |
| kidney | cells in glomeruli | Low | Enhanced |
| kidney | cells in tubules | Medium | Enhanced |
| liver | cholangiocytes | Medium | Enhanced |
| liver | hepatocytes | Low | Enhanced |
| lung | alveolar cells type II | Medium | Enhanced |
| lung | macrophages | Medium | Enhanced |
| lymph node | germinal center cells | Low | Enhanced |
| lymph node | non-germinal center cells | Medium | Enhanced |
| nasopharynx | basal cells | Medium | Enhanced |
| nasopharynx | ciliated cells (cell body) | Medium | Enhanced |
| nasopharynx | goblet cells | Medium | Enhanced |
| oral mucosa | squamous epithelial cells | Medium | Enhanced |
| ovary | follicle cells | Medium | Enhanced |
| ovary | ovarian stroma cells | Medium | Enhanced |
| pancreas | exocrine glandular cells | High | Enhanced |
| pancreas | pancreatic endocrine cells | Medium | Enhanced |
| parathyroid gland | glandular cells | Medium | Enhanced |
| placenta | cytotrophoblasts | High | Enhanced |
| placenta | decidual cells | Medium | Enhanced |
| placenta | endothelial cells | Medium | Enhanced |
| placenta | hofbauer cells | High | Enhanced |
| placenta | syncytiotrophoblasts - cell body | High | Enhanced |
| prostate | glandular cells | Medium | Enhanced |
| rectum | glandular cells | High | Enhanced |
| salivary gland | glandular cells | Medium | Enhanced |
| seminal vesicle | glandular cells | Medium | Enhanced |
| skeletal muscle | myocytes | Low | Enhanced |
| skin 1 | Langerhans | Low | Enhanced |
| skin 1 | fibroblasts | Low | Enhanced |
| skin 1 | keratinocytes | Medium | Enhanced |
| skin 1 | melanocytes | Medium | Enhanced |
| skin 2 | epidermal cells | Medium | Enhanced |
| small intestine | glandular cells | Medium | Enhanced |
| smooth muscle | smooth muscle cells | Low | Enhanced |
| soft tissue 1 | fibroblasts | Low | Enhanced |
| soft tissue 1 | peripheral nerve | Low | Enhanced |
| soft tissue 2 | fibroblasts | Low | Enhanced |
| soft tissue 2 | peripheral nerve | Low | Enhanced |
| spleen | cells in red pulp | Low | Enhanced |
| spleen | cells in white pulp | Medium | Enhanced |
| stomach 1 | glandular cells | High | Enhanced |
| stomach 2 | glandular cells | High | Enhanced |
| testis | Leydig cells | Medium | Enhanced |
| testis | elongated or late spermatids | Medium | Enhanced |
| testis | pachytene spermatocytes | Medium | Enhanced |
| testis | round or early spermatids | Medium | Enhanced |
| testis | sertoli cells | Medium | Enhanced |
| thyroid gland | glandular cells | Medium | Enhanced |
| tonsil | germinal center cells | Medium | Enhanced |
| tonsil | non-germinal center cells | Medium | Enhanced |
| tonsil | squamous epithelial cells | Medium | Enhanced |
| urinary bladder | urothelial cells | Medium | Enhanced |
| vagina | squamous epithelial cells | Medium | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | MONDO:0030837 | G00 | chapter6, Diseases of the nervous system | OMIM:619092 | |
| neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | MONDO:0030837 | G98 | chapter6, Diseases of the nervous system | OMIM:619092 | |
| neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | MONDO:0100348 | G00 | chapter6, Diseases of the nervous system | OMIM:619091 | |
| neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | MONDO:0100348 | G98 | chapter6, Diseases of the nervous system | OMIM:619091 |