Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
3.1.1.29
Hydrolases;
Acting on ester bonds;
Carboxylic-ester hydrolases;
aminoacyl-tRNA hydrolase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1Q7S | 2.0 | Crystal structure of bit1 |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006915 | apoptotic process |
| Biological Process | GO:2000811 | negative regulation of anoikis |
| Biological Process | GO:0010629 | negative regulation of gene expression |
| Biological Process | GO:2000210 | positive regulation of anoikis |
| Molecular Function | GO:0004045 | aminoacyl-tRNA hydrolase activity |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005739 | mitochondrion |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-5689880 | Ub-specific processing proteases | Leaf | R-HSA-392499 | Metabolism of proteins |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000049 | Shawl scrotum |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000248 | Brachycephaly |
| HP:0000253 | Progressive microcephaly |
| HP:0000309 | Abnormal midface morphology |
| HP:0000316 | Hypertelorism |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000577 | Exotropia |
| HP:0000819 | Diabetes mellitus |
| HP:0000821 | Hypothyroidism |
| HP:0000823 | Delayed puberty |
| HP:0001155 | Abnormality of the hand |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001270 | Motor delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001310 | Dysmetria |
| HP:0001319 | Neonatal hypotonia |
| HP:0001374 | Congenital hip dislocation |
| HP:0001395 | Hepatic fibrosis |
| HP:0001397 | Hepatic steatosis |
| HP:0001508 | Failure to thrive |
| HP:0001530 | Mild postnatal growth retardation |
| HP:0001558 | Decreased fetal movement |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0001760 | Abnormal foot morphology |
| HP:0001762 | Talipes equinovarus |
| HP:0001771 | Achilles tendon contracture |
| HP:0001772 | Talipes equinovalgus |
| HP:0001844 | Abnormal hallux morphology |
| HP:0001999 | Abnormal facial shape |
| HP:0002058 | Myopathic facies |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002240 | Hepatomegaly |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002353 | EEG abnormality |
| HP:0002460 | Distal muscle weakness |
| HP:0002570 | Steatorrhea |
| HP:0002827 | Hip dislocation |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0003448 | Decreased sensory nerve conduction velocity |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003676 | Progressive |
| HP:0003693 | Distal amyotrophy |
| HP:0004322 | Short stature |
| HP:0005484 | Secondary microcephaly |
| HP:0006276 | Hyperechogenic pancreas |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0008366 | Foot joint contracture |
| HP:0008897 | Postnatal growth retardation |
| HP:0009463 | Ulnar deviation of the 3rd finger |
| HP:0009464 | Ulnar deviation of the 2nd finger |
| HP:0009473 | Joint contracture of the hand |
| HP:0009623 | Proximal placement of thumb |
| HP:0010628 | Facial palsy |
| HP:0011800 | Midface retrusion |
| HP:0012418 | Hypoxemia |
| HP:0030146 | Abnormal liver parenchyma morphology |
| HP:0030951 | Skeletal muscle fibrosis |
| HP:0100307 | Cerebellar hemisphere hypoplasia |
| HP:0100732 | Pancreatic fibrosis |
| HP:0100800 | Aplasia/Hypoplasia of the pancreas |
| HP:0100807 | Long fingers |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | High | Supported |
| appendix | glandular cells | High | Supported |
| appendix | lymphoid tissue | High | Supported |
| bone marrow | hematopoietic cells | High | Supported |
| breast | glandular cells | High | Supported |
| breast | myoepithelial cells | High | Supported |
| bronchus | respiratory epithelial cells | High | Supported |
| caudate | glial cells | Medium | Supported |
| caudate | neuronal cells | Medium | Supported |
| cerebellum | Purkinje cells | High | Supported |
| cerebellum | cells in granular layer | High | Supported |
| cerebellum | cells in molecular layer | High | Supported |
| cerebral cortex | endothelial cells | Low | Supported |
| cerebral cortex | glial cells | High | Supported |
| cerebral cortex | neuronal cells | High | Supported |
| cerebral cortex | neuropil | Medium | Supported |
| cervix | glandular cells | High | Supported |
| cervix | squamous epithelial cells | Medium | Supported |
| colon | endothelial cells | Low | Supported |
| colon | glandular cells | High | Supported |
| colon | peripheral nerve/ganglion | Low | Supported |
| duodenum | glandular cells | High | Supported |
| endometrium 1 | cells in endometrial stroma | High | Supported |
| endometrium 1 | glandular cells | High | Supported |
| endometrium 2 | cells in endometrial stroma | Medium | Supported |
| endometrium 2 | glandular cells | High | 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 | High | Supported |
| hippocampus | glial cells | Medium | Supported |
| hippocampus | neuronal cells | High | 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 | Medium | Supported |
| lung | endothelial cells | Medium | Supported |
| lung | macrophages | High | Supported |
| lymph node | germinal center cells | High | Supported |
| lymph node | non-germinal center cells | High | Supported |
| nasopharynx | respiratory epithelial cells | High | Supported |
| oral mucosa | squamous epithelial cells | High | Supported |
| ovary | ovarian stroma cells | High | Supported |
| pancreas | exocrine glandular cells | High | Supported |
| pancreas | pancreatic endocrine cells | Medium | Supported |
| parathyroid gland | glandular cells | High | Supported |
| placenta | decidual cells | Medium | Supported |
| placenta | trophoblastic cells | High | Supported |
| prostate | glandular cells | High | Supported |
| rectum | glandular cells | High | Supported |
| salivary gland | glandular cells | High | 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 | High | Supported |
| small intestine | glandular cells | High | Supported |
| smooth muscle | smooth muscle cells | Medium | Supported |
| soft tissue 1 | fibroblasts | High | Supported |
| soft tissue 1 | peripheral nerve | Low | Supported |
| soft tissue 2 | fibroblasts | Medium | Supported |
| soft tissue 2 | peripheral nerve | Low | Supported |
| spleen | cells in red pulp | Medium | Supported |
| spleen | cells in white pulp | High | Supported |
| stomach 1 | glandular cells | High | Supported |
| stomach 2 | glandular cells | High | Supported |
| testis | Leydig cells | High | Supported |
| testis | elongated or late spermatids | Medium | Supported |
| testis | pachytene spermatocytes | Medium | Supported |
| testis | preleptotene spermatocytes | Medium | Supported |
| testis | round or early spermatids | Medium | Supported |
| testis | sertoli cells | Medium | Supported |
| testis | spermatogonia cells | High | Supported |
| thyroid gland | glandular cells | High | Supported |
| tonsil | germinal center cells | High | Supported |
| tonsil | non-germinal center cells | High | Supported |
| tonsil | squamous epithelial cells | High | Supported |
| urinary bladder | urothelial cells | High | Supported |
| vagina | squamous epithelial cells | Medium | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| cerebellar ataxia | MONDO:0000437 | G11 | chapter6, Diseases of the nervous system | Orphanet:102002 | |
| obsolete infantile multisystem neurologic-endocrine-pancreatic disease | MONDO:0014554 | - | - | ||
| neurologic- endocrine- and pancreatic disease- multisystem- infantile-onset 1 | MONDO:8000012 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:616263 | Orphanet:456312 |