Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
3.4.17.-
Hydrolases;
Acting on peptide bonds (peptidases);
Metallocarboxypeptidases;
3.4.17.24
Hydrolases;
Acting on peptide bonds (peptidases);
Metallocarboxypeptidases;
tubulin-glutamate carboxypeptidase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0035609 | C-terminal protein deglutamylation |
| Biological Process | GO:0007628 | adult walking behavior |
| Biological Process | GO:0098957 | anterograde axonal transport of mitochondrion |
| Biological Process | GO:0021954 | central nervous system neuron development |
| Biological Process | GO:0021702 | cerebellar Purkinje cell differentiation |
| Biological Process | GO:0001754 | eye photoreceptor cell differentiation |
| Biological Process | GO:0007005 | mitochondrion organization |
| Biological Process | GO:0008285 | negative regulation of cell population proliferation |
| Biological Process | GO:0050905 | neuromuscular process |
| Biological Process | GO:0042133 | neurotransmitter metabolic process |
| Biological Process | GO:0021772 | olfactory bulb development |
| Biological Process | GO:2000060 | positive regulation of ubiquitin-dependent protein catabolic process |
| Biological Process | GO:0035608 | protein deglutamylation |
| Biological Process | GO:0035610 | protein side chain deglutamylation |
| Biological Process | GO:0006508 | proteolysis |
| Biological Process | GO:0060041 | retina development in camera-type eye |
| Biological Process | GO:0098958 | retrograde axonal transport of mitochondrion |
| Molecular Function | GO:0004181 | metallocarboxypeptidase activity |
| Molecular Function | GO:0015631 | tubulin binding |
| Molecular Function | GO:0008270 | zinc ion binding |
| Cellular Component | GO:1904115 | axon cytoplasm |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0043231 | intracellular membrane-bounded organelle |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005730 | nucleolus |
| Cellular Component | GO:0005634 | nucleus |
| InterPro
|
InterPro name |
|---|---|
| IPR000834 | Peptidase M14, carboxypeptidase A |
| IPR011989 | Armadillo-like helical |
| IPR016024 | Armadillo-type fold |
| IPR033852 | Cytosolic aminopeptidase 1/4 |
| IPR040626 | Cytosolic carboxypeptidase, N-terminal |
| Pfam
|
Pfam name |
|---|---|
| PF00246 | Zinc carboxypeptidase |
| PF18027 | Cytosolic carboxypeptidase N-terminal domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-8955332 | Carboxyterminal post-translational modifications of tubulin | Leaf | R-HSA-392499 | Metabolism of proteins |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:17244818 |
| Cytoplasm | ECO:0000269 | PubMed:23085998 |
| Cytoplasm, cytosol | ECO:0000250 | |
| Mitochondrion | ECO:0000250 | |
| Nucleus | ECO:0000269 | PubMed:23085998 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000253 | Progressive microcephaly |
| HP:0000486 | Strabismus |
| HP:0000514 | Slow saccadic eye movements |
| HP:0000529 | Progressive visual loss |
| HP:0000565 | Esotropia |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000817 | Reduced eye contact |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001270 | Motor delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001308 | Tongue fasciculations |
| HP:0001324 | Muscle weakness |
| HP:0001332 | Dystonia |
| HP:0001344 | Absent speech |
| HP:0001347 | Hyperreflexia |
| HP:0001508 | Failure to thrive |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002273 | Tetraparesis |
| HP:0002283 | Global brain atrophy |
| HP:0002350 | Cerebellar cyst |
| HP:0002376 | Developmental regression |
| HP:0002398 | Degeneration of anterior horn cells |
| HP:0002540 | Inability to walk |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0002878 | Respiratory failure |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003676 | Progressive |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0004886 | Congenital laryngeal stridor |
| HP:0006989 | Dysplastic corpus callosum |
| HP:0007002 | Motor axonal neuropathy |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0011410 | Caesarian section |
| HP:0011463 | Childhood onset |
| HP:0011968 | Feeding difficulties |
| HP:0012110 | Hypoplasia of the pons |
| HP:0025331 | Upgaze palsy |
| HP:0033725 | Thin corpus callosum |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | High | Approved |
| appendix | glandular cells | High | Approved |
| appendix | lymphoid tissue | Medium | Approved |
| bone marrow | hematopoietic cells | Medium | Approved |
| breast | glandular cells | Medium | Approved |
| breast | myoepithelial cells | Low | Approved |
| bronchus | respiratory epithelial cells | High | Approved |
| caudate | glial cells | Medium | Approved |
| caudate | neuronal cells | High | Approved |
| cerebellum | Purkinje cells | Low | Approved |
| cerebellum | cells in granular layer | Low | Approved |
| cerebellum | cells in molecular layer | Low | Approved |
| cerebral cortex | glial cells | High | Approved |
| cerebral cortex | neuronal cells | High | Approved |
| cerebral cortex | neuropil | Low | Approved |
| cervix | squamous epithelial cells | Medium | Approved |
| colon | endothelial cells | Medium | Approved |
| colon | glandular cells | High | Approved |
| colon | peripheral nerve/ganglion | High | Approved |
| duodenum | glandular cells | High | Approved |
| endometrium 1 | cells in endometrial stroma | Low | Approved |
| endometrium 1 | glandular cells | High | Approved |
| endometrium 2 | cells in endometrial stroma | Low | Approved |
| endometrium 2 | glandular cells | High | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | High | Approved |
| fallopian tube | glandular cells | High | Approved |
| gallbladder | glandular cells | High | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | High | Approved |
| kidney | cells in glomeruli | Medium | Approved |
| kidney | cells in tubules | High | Approved |
| liver | cholangiocytes | Low | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | alveolar cells | Medium | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | non-germinal center cells | High | Approved |
| oral mucosa | squamous epithelial cells | High | Approved |
| ovary | ovarian stroma cells | Medium | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| parathyroid gland | glandular cells | High | Approved |
| placenta | decidual cells | High | Approved |
| placenta | trophoblastic cells | High | Approved |
| prostate | glandular cells | Low | Approved |
| rectum | glandular cells | High | Approved |
| salivary gland | glandular cells | High | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | Low | Approved |
| skin 1 | Langerhans | High | Approved |
| skin 1 | fibroblasts | Low | Approved |
| skin 1 | melanocytes | High | Approved |
| skin 2 | epidermal cells | Medium | Approved |
| small intestine | glandular cells | High | Approved |
| smooth muscle | smooth muscle cells | Low | Approved |
| soft tissue 1 | chondrocytes | Medium | Approved |
| soft tissue 1 | fibroblasts | Low | Approved |
| soft tissue 1 | peripheral nerve | Medium | Approved |
| soft tissue 2 | fibroblasts | Medium | Approved |
| soft tissue 2 | peripheral nerve | High | Approved |
| spleen | cells in red pulp | Medium | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | High | Approved |
| stomach 2 | glandular cells | High | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | elongated or late spermatids | Medium | Approved |
| testis | pachytene spermatocytes | High | Approved |
| testis | round or early spermatids | High | Approved |
| testis | sertoli cells | Low | Approved |
| testis | spermatogonia cells | Low | Approved |
| thyroid gland | glandular cells | High | Approved |
| tonsil | germinal center cells | Medium | Approved |
| tonsil | non-germinal center cells | Medium | Approved |
| tonsil | squamous epithelial cells | High | Approved |
| urinary bladder | urothelial cells | High | Approved |
| vagina | squamous epithelial cells | High | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| pontocerebellar hypoplasia type 1 | MONDO:0016396 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:2254 | |
| neurodegeneration- childhood-onset- with cerebellar atrophy | MONDO:0032650 | G31 | chapter6, Diseases of the nervous system | OMIM:618276 |