GO term
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 |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0031728 | CCR3 chemokine receptor binding |
| Molecular Function | GO:0004816 | asparagine-tRNA ligase activity |
Showing 1 to 10 of 12 entries
InterPro / Pfam
| 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) |
Showing 1 to 7 of 7 entries
Reactome
| Reactome
| Reactome Name | Node type
| Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-379716 | Cytosolic tRNA aminoacylation | Leaf | R-HSA-392499 | Metabolism of proteins |
Showing 1 to 1 of 1 entries
Subcellular location
| Location
| ECO term
| Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000305 | PubMed:9421509 |
Showing 1 to 1 of 1 entries
Interactor | Variant | Drug
Phenotype
| 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 |
Showing 1 to 10 of 48 entries
Tissue and cell type
| 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 |
Showing 1 to 10 of 92 entries
Disease
| Disease name | MONDO ID
| ICD10
| ICD10 chapter
| OMIM
| Orphanet
|
|---|---|---|---|---|---|
| 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 | |
| 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 |
Showing 1 to 4 of 4 entries