Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1E7Z | 2.05 | Crystal structure of the EMAP2/RNA binding domain of the p43 protein from human aminoacyl-tRNA synthetase complex |
| 1EUJ | 1.8 | A NOVEL ANTI-TUMOR CYTOKINE CONTAINS A RNA-BINDING MOTIF PRESENT IN AMINOACYL-TRNA SYNTHETASES |
| 1FL0 | 1.5 | CRYSTAL STRUCTURE OF THE EMAP2/RNA-BINDING DOMAIN OF THE P43 PROTEIN FROM HUMAN AMINOACYL-TRNA SYNTHETASE COMPLEX |
| 4R3Z | 4.033 | Crystal structure of human ArgRS-GlnRS-AIMP1 complex |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0001525 | angiogenesis |
| Biological Process | GO:0006915 | apoptotic process |
| Biological Process | GO:0007267 | cell-cell signaling |
| Biological Process | GO:0006954 | inflammatory response |
| Biological Process | GO:0050900 | leukocyte migration |
| Biological Process | GO:0001937 | negative regulation of endothelial cell proliferation |
| Biological Process | GO:0070094 | positive regulation of glucagon secretion |
| Biological Process | GO:0006412 | translation |
| Molecular Function | GO:0051020 | GTPase binding |
| Molecular Function | GO:0005125 | cytokine activity |
| Molecular Function | GO:0042803 | protein homodimerization activity |
| Molecular Function | GO:0000049 | tRNA binding |
| Cellular Component | GO:0005794 | Golgi apparatus |
| Cellular Component | GO:0017101 | aminoacyl-tRNA synthetase multienzyme complex |
| Cellular Component | GO:0009986 | cell surface |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005783 | endoplasmic reticulum |
| Cellular Component | GO:0005615 | extracellular space |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005634 | nucleus |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-2408522 | Selenoamino acid metabolism | Internal node | R-HSA-1430728 | Metabolism |
| R-HSA-379716 | Cytosolic tRNA aminoacylation | Leaf | R-HSA-392499 | Metabolism of proteins |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm, cytosol | ECO:0000269 | PubMed:19289464 |
| Endoplasmic reticulum | ECO:0000250 | |
| Golgi apparatus | ECO:0000250 | |
| Nucleus | ECO:0000269 | PubMed:14500886 |
| Secreted | ECO:0000269 | PubMed:10850427 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000280 | Coarse facial features |
| HP:0000505 | Visual impairment |
| HP:0000577 | Exotropia |
| HP:0000639 | Nystagmus |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001344 | Absent speech |
| HP:0001508 | Failure to thrive |
| HP:0001522 | Death in infancy |
| HP:0001622 | Premature birth |
| HP:0002283 | Global brain atrophy |
| HP:0002313 | Spastic paraparesis |
| HP:0002353 | EEG abnormality |
| HP:0002415 | Leukodystrophy |
| HP:0002587 | Projectile vomiting |
| HP:0002751 | Kyphoscoliosis |
| HP:0003269 | Sudanophilic leukodystrophy |
| HP:0003593 | Infantile onset |
| HP:0003676 | Progressive |
| HP:0006918 | Diffuse cerebral sclerosis |
| HP:0007210 | Lower limb amyotrophy |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007371 | Corpus callosum atrophy |
| HP:0008936 | Axial hypotonia |
| HP:0030211 | Slow pupillary light response |
| HP:0034353 | Appendicular spasticity |
| HP:0034392 | Joint contracture |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Supported |
| adrenal gland | glandular cells | Medium | Supported |
| appendix | glandular cells | Medium | Supported |
| appendix | lymphoid tissue | Medium | Supported |
| bone marrow | hematopoietic cells | Medium | Supported |
| breast | adipocytes | Low | Supported |
| breast | glandular cells | Medium | Supported |
| breast | myoepithelial cells | Low | Supported |
| bronchus | respiratory epithelial cells | Medium | Supported |
| caudate | glial cells | Medium | Supported |
| caudate | neuronal cells | High | Supported |
| cerebellum | Bergmann glia - cytoplasm/membrane | Low | Supported |
| cerebellum | GLUC cells - cytoplasm/membrane | High | Supported |
| cerebellum | Purkinje cells - cytoplasm/membrane | High | Supported |
| cerebellum | Purkinje cells - dendrites | Low | Supported |
| cerebellum | granular cells - cytoplasm/membrane | Medium | Supported |
| cerebellum | molecular layer cells - cytoplasm/membrane | High | Supported |
| cerebellum | processes in molecular layer | Medium | Supported |
| cerebellum | white matter cells - cytoplasm/membrane | Medium | Supported |
| cerebral cortex | endothelial cells | Low | Supported |
| cerebral cortex | glial cells | Medium | Supported |
| cerebral cortex | neuronal cells | High | Supported |
| cervix | squamous epithelial cells | Medium | Supported |
| colon | endothelial cells | Low | Supported |
| colon | glandular cells | Medium | Supported |
| colon | peripheral nerve/ganglion | Medium | Supported |
| duodenum | glandular cells | Medium | Supported |
| endometrium 1 | cells in endometrial stroma | Low | Supported |
| endometrium 1 | glandular cells | Medium | Supported |
| endometrium 2 | cells in endometrial stroma | Low | Supported |
| endometrium 2 | glandular cells | Medium | Supported |
| epididymis | glandular cells | Medium | Supported |
| esophagus | squamous epithelial cells | Medium | Supported |
| fallopian tube | glandular cells | Medium | Supported |
| gallbladder | glandular cells | Medium | Supported |
| heart muscle | cardiomyocytes | Low | Supported |
| hippocampus | glial cells | Medium | Supported |
| hippocampus | neuronal cells | High | Supported |
| kidney | cells in glomeruli | Medium | Supported |
| kidney | cells in tubules | Medium | Supported |
| liver | cholangiocytes | Low | Supported |
| liver | hepatocytes | Low | Supported |
| lung | alveolar cells type II | High | Supported |
| lung | macrophages | Medium | Supported |
| lymph node | germinal center cells | Medium | Supported |
| lymph node | non-germinal center cells | Medium | 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 |
| pancreas | pancreatic endocrine cells | Medium | Supported |
| parathyroid gland | glandular cells | Medium | Supported |
| placenta | decidual cells | Medium | Supported |
| placenta | trophoblastic cells | Medium | Supported |
| prostate | glandular cells | Medium | Supported |
| rectum | glandular cells | Medium | Supported |
| salivary gland | glandular cells | Medium | Supported |
| seminal vesicle | glandular cells | Medium | Supported |
| skeletal muscle | myocytes | Low | Supported |
| skin 1 | cells in basal layer | Low | Supported |
| skin 1 | cells in corneal layer | Low | Supported |
| skin 1 | cells in granular layer | Low | Supported |
| skin 1 | cells in spinous layer | Low | Supported |
| skin 1 | eccrine glands | Low | Supported |
| skin 1 | endothelial cells | Medium | Supported |
| skin 1 | fibrohistiocytic cells | Medium | Supported |
| skin 1 | langerhans cells | Low | Supported |
| skin 2 | cells in basal layer | Low | Supported |
| skin 2 | cells in granular layer | Low | Supported |
| skin 2 | cells in spinous layer | Low | Supported |
| skin 2 | endothelial cells | Medium | Supported |
| skin 2 | fibrohistiocytic cells | Medium | Supported |
| skin 2 | hair follicles | Medium | Supported |
| skin 2 | langerhans cells | Low | Supported |
| skin 2 | lymphocytes | Medium | Supported |
| small intestine | glandular cells | Medium | Supported |
| smooth muscle | smooth muscle cells | Low | Supported |
| soft tissue 1 | fibroblasts | Low | Supported |
| soft tissue 2 | fibroblasts | Low | Supported |
| soft tissue 2 | peripheral nerve | Medium | Supported |
| spleen | cells in red pulp | Medium | Supported |
| spleen | cells in white pulp | Medium | Supported |
| stomach 1 | glandular cells | Medium | Supported |
| stomach 2 | glandular cells | Medium | Supported |
| testis | Leydig cells | Low | Supported |
| testis | elongated or late spermatids | Low | Supported |
| testis | pachytene spermatocytes | Low | Supported |
| testis | sertoli cells | Low | Supported |
| testis | spermatogonia cells | Medium | Supported |
| thyroid gland | glandular cells | Medium | Supported |
| tonsil | germinal center cells | Medium | Supported |
| tonsil | non-germinal center cells | Medium | Supported |
| tonsil | squamous epithelial cells | Medium | Supported |
| urinary bladder | urothelial cells | Medium | Supported |
| vagina | squamous epithelial cells | Low | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| hypomyelinating leukodystrophy 3 | MONDO:0009843 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:260600 | Orphanet:280293 |
| autosomal recessive non-syndromic intellectual disability | MONDO:0019502 | F70 | chapter5, Mental and behavioural disorders | OMIMPS:249500 | Orphanet:88616 |
| autosomal recessive non-syndromic intellectual disability | MONDO:0019502 | F71 | chapter5, Mental and behavioural disorders | OMIMPS:249500 | Orphanet:88616 |
| autosomal recessive non-syndromic intellectual disability | MONDO:0019502 | F72 | chapter5, Mental and behavioural disorders | OMIMPS:249500 | Orphanet:88616 |
| autosomal recessive non-syndromic intellectual disability | MONDO:0019502 | F73 | chapter5, Mental and behavioural disorders | OMIMPS:249500 | Orphanet:88616 |