Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
6.1.1.18
Ligases;
Forming carbon-oxygen bonds;
Ligases forming aminoacyl-tRNA and related compounds;
glutamine—tRNA ligase
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0007420 | brain development |
| Biological Process | GO:0006425 | glutaminyl-tRNA aminoacylation |
| Biological Process | GO:0045892 | negative regulation of DNA-templated transcription |
| Biological Process | GO:2001234 | negative regulation of apoptotic signaling pathway |
| Biological Process | GO:0006469 | negative regulation of protein kinase activity |
| Biological Process | GO:0032873 | negative regulation of stress-activated MAPK cascade |
| Biological Process | GO:0006418 | tRNA aminoacylation for protein translation |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0004819 | glutamine-tRNA ligase activity |
| Molecular Function | GO:0019901 | protein kinase binding |
| Molecular Function | GO:0004860 | protein kinase inhibitor activity |
| Cellular Component | GO:0017101 | aminoacyl-tRNA synthetase multienzyme complex |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0032991 | protein-containing complex |
| InterPro
|
InterPro name |
|---|---|
| IPR000924 | Glutamyl/glutaminyl-tRNA synthetase |
| IPR001412 | Aminoacyl-tRNA synthetase, class I, conserved site |
| IPR004514 | Glutamine-tRNA synthetase |
| IPR007638 | Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 |
| IPR007639 | Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal |
| IPR011035 | Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain superfamily |
| IPR014729 | Rossmann-like alpha/beta/alpha sandwich fold |
| IPR020056 | Ribosomal protein L25/Gln-tRNA synthetase, N-terminal |
| IPR020058 | Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain |
| IPR020059 | Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain |
| IPR042558 | Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal, subdomain 1 |
| IPR042559 | Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal, subdomain 2 |
| Pfam
|
Pfam name |
|---|---|
| PF00749 | tRNA synthetases class I (E and Q), catalytic domain |
| PF03950 | tRNA synthetases class I (E and Q), anti-codon binding domain |
| PF04557 | Glutaminyl-tRNA synthetase, non-specific RNA binding region part 2 |
| PF04558 | Glutaminyl-tRNA synthetase, non-specific RNA binding region part 1 |
| 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 |
| R-HSA-379726 | Mitochondrial tRNA aminoacylation | Leaf | R-HSA-392499 | Metabolism of proteins |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:10791971 |
| Cytoplasm | ECO:0000269 | PubMed:24656866 |
| Cytoplasm, cytosol | ECO:0000269 | PubMed:19289464 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000253 | Progressive microcephaly |
| HP:0000286 | Epicanthus |
| HP:0000340 | Sloping forehead |
| HP:0000341 | Narrow forehead |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000431 | Wide nasal bridge |
| HP:0000601 | Hypotelorism |
| HP:0001252 | Hypotonia |
| HP:0001347 | Hyperreflexia |
| HP:0002059 | Cerebral atrophy |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0002133 | Status epilepticus |
| HP:0003429 | CNS hypomyelination |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0003676 | Progressive |
| HP:0005280 | Depressed nasal bridge |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0009879 | Simplified gyral pattern |
| HP:0012736 | Profound global developmental delay |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Enhanced |
| appendix | glandular cells | Medium | Enhanced |
| appendix | lymphoid tissue | Medium | Enhanced |
| bone marrow | hematopoietic cells | Low | Enhanced |
| breast | glandular cells | Medium | Enhanced |
| breast | myoepithelial cells | Medium | Enhanced |
| bronchus | respiratory epithelial cells | Medium | Enhanced |
| caudate | neuronal cells | High | Enhanced |
| cerebellum | Purkinje cells | High | Enhanced |
| cerebellum | cells in granular layer | Low | Enhanced |
| cerebellum | cells in molecular layer | Low | Enhanced |
| cerebral cortex | endothelial cells | Low | Enhanced |
| cerebral cortex | glial cells | Low | Enhanced |
| cerebral cortex | neuronal cells | High | Enhanced |
| cervix | glandular cells | Low | Enhanced |
| cervix | squamous epithelial cells | Low | Enhanced |
| colon | endothelial cells | Low | Enhanced |
| colon | glandular cells | Medium | Enhanced |
| duodenum | glandular cells | High | Enhanced |
| endometrium 1 | glandular cells | Medium | Enhanced |
| endometrium 2 | glandular cells | Medium | Enhanced |
| epididymis | glandular cells | Medium | Enhanced |
| esophagus | squamous epithelial cells | Medium | Enhanced |
| fallopian tube | glandular cells | Medium | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| heart muscle | cardiomyocytes | Medium | Enhanced |
| hippocampus | neuronal cells | Medium | Enhanced |
| kidney | cells in tubules | Medium | Enhanced |
| liver | hepatocytes | Low | Enhanced |
| lung | macrophages | Medium | Enhanced |
| lymph node | germinal center cells | Low | Enhanced |
| nasopharynx | respiratory epithelial cells | Medium | Enhanced |
| oral mucosa | squamous epithelial cells | Medium | Enhanced |
| ovary | follicle cells | Medium | Enhanced |
| pancreas | exocrine glandular cells | Medium | Enhanced |
| pancreas | pancreatic endocrine cells | Low | Enhanced |
| parathyroid gland | glandular cells | Medium | Enhanced |
| placenta | trophoblastic cells | Medium | Enhanced |
| prostate | glandular cells | Medium | Enhanced |
| rectum | glandular cells | Medium | Enhanced |
| salivary gland | glandular cells | Medium | Enhanced |
| seminal vesicle | glandular cells | Medium | Enhanced |
| skeletal muscle | myocytes | Medium | Enhanced |
| skin 1 | Langerhans | Low | Enhanced |
| skin 1 | fibroblasts | Medium | Enhanced |
| skin 1 | keratinocytes | Low | Enhanced |
| skin 1 | melanocytes | Low | Enhanced |
| skin 2 | epidermal cells | Medium | Enhanced |
| small intestine | glandular cells | High | Enhanced |
| soft tissue 1 | fibroblasts | Low | Enhanced |
| soft tissue 2 | chondrocytes | Low | Enhanced |
| soft tissue 2 | fibroblasts | Low | Enhanced |
| stomach 1 | glandular cells | High | Enhanced |
| stomach 2 | glandular cells | High | Enhanced |
| testis | Leydig cells | Low | Enhanced |
| testis | sertoli cells | Low | Enhanced |
| testis | spermatogonia cells | High | Enhanced |
| thyroid gland | glandular cells | Medium | Enhanced |
| tonsil | 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
|
|---|---|---|---|---|---|
| diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | MONDO:0014335 | G98 | chapter6, Diseases of the nervous system | OMIM:615760 | Orphanet:404437 |
| microcephaly-short stature-intellectual disability-facial dysmorphism syndrome | MONDO:0018494 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:423306 |