Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0150093 | amyloid-beta clearance by transcytosis |
| Biological Process | GO:0007409 | axonogenesis |
| Biological Process | GO:0048268 | clathrin coat assembly |
| Biological Process | GO:0072583 | clathrin-dependent endocytosis |
| Biological Process | GO:0048813 | dendrite morphogenesis |
| Biological Process | GO:0006897 | endocytosis |
| Biological Process | GO:0016197 | endosomal transport |
| Biological Process | GO:0030097 | hemopoiesis |
| Biological Process | GO:0006879 | intracellular iron ion homeostasis |
| Biological Process | GO:0007611 | learning or memory |
| Biological Process | GO:0097753 | membrane bending |
| Biological Process | GO:0060586 | multicellular organismal-level iron ion homeostasis |
| Biological Process | GO:0010629 | negative regulation of gene expression |
| Biological Process | GO:1902963 | negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process |
| Biological Process | GO:2000009 | negative regulation of protein localization to cell surface |
| Biological Process | GO:1903077 | negative regulation of protein localization to plasma membrane |
| Biological Process | GO:0048261 | negative regulation of receptor-mediated endocytosis |
| Biological Process | GO:0045893 | positive regulation of DNA-templated transcription |
| Biological Process | GO:0043547 | positive regulation of GTPase activity |
| Biological Process | GO:1902004 | positive regulation of amyloid-beta formation |
| Biological Process | GO:1902961 | positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process |
| Biological Process | GO:1901216 | positive regulation of neuron death |
| Biological Process | GO:0065003 | protein-containing complex assembly |
| Biological Process | GO:0031623 | receptor internalization |
| Biological Process | GO:0006898 | receptor-mediated endocytosis |
| Biological Process | GO:1902959 | regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process |
| Biological Process | GO:0030100 | regulation of endocytosis |
| Biological Process | GO:0032880 | regulation of protein localization |
| Biological Process | GO:0097494 | regulation of vesicle size |
| Biological Process | GO:0016185 | synaptic vesicle budding from presynaptic endocytic zone membrane |
| Biological Process | GO:0016188 | synaptic vesicle maturation |
| Biological Process | GO:0006900 | vesicle budding from membrane |
| Biological Process | GO:0035459 | vesicle cargo loading |
| Biological Process | GO:0016192 | vesicle-mediated transport |
| Molecular Function | GO:0005545 | 1-phosphatidylinositol binding |
| Molecular Function | GO:0000149 | SNARE binding |
| Molecular Function | GO:0001540 | amyloid-beta binding |
| Molecular Function | GO:0045296 | cadherin binding |
| Molecular Function | GO:0030276 | clathrin binding |
| Molecular Function | GO:0032050 | clathrin heavy chain binding |
| Molecular Function | GO:0050750 | low-density lipoprotein particle receptor binding |
| Molecular Function | GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding |
| Molecular Function | GO:0031267 | small GTPase binding |
| Molecular Function | GO:0048156 | tau protein binding |
| Cellular Component | GO:0005794 | Golgi apparatus |
| Cellular Component | GO:0009986 | cell surface |
| Cellular Component | GO:0030132 | clathrin coat of coated pit |
| Cellular Component | GO:0045334 | clathrin-coated endocytic vesicle |
| Cellular Component | GO:0005905 | clathrin-coated pit |
| Cellular Component | GO:0030136 | clathrin-coated vesicle |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005769 | early endosome |
| Cellular Component | GO:0070381 | endosome to plasma membrane transport vesicle |
| Cellular Component | GO:0098894 | extrinsic component of presynaptic endocytic zone membrane |
| Cellular Component | GO:0043231 | intracellular membrane-bounded organelle |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0097418 | neurofibrillary tangle |
| Cellular Component | GO:0043025 | neuronal cell body |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0048471 | perinuclear region of cytoplasm |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0045211 | postsynaptic membrane |
| Cellular Component | GO:0042734 | presynaptic membrane |
| Cellular Component | GO:0008021 | synaptic vesicle |
| Cellular Component | GO:0031982 | vesicle |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-432722 | Golgi Associated Vesicle Biogenesis | Leaf | R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis | Leaf | R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-8856828 | Clathrin-mediated endocytosis | Internal node | R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-9696264 | RND3 GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell membrane | ECO:0000269 | PubMed:16262731 |
| Cytoplasmic vesicle, clathrin-coated vesicle | ECO:0000269 | PubMed:10436022 |
| Golgi apparatus | ECO:0000269 | PubMed:10436022 |
| Membrane, clathrin-coated pit | ECO:0000269 | PubMed:10436022 |
| Nucleus | ECO:0000269 | PubMed:16491119 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001428 | Somatic mutation |
| HP:0004808 | Acute myeloid leukemia |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Enhanced |
| adrenal gland | glandular cells | High | Enhanced |
| appendix | endocrine cells | High | Enhanced |
| appendix | enterocytes | High | Enhanced |
| appendix | enterocytes - Microvilli | High | Enhanced |
| appendix | germinal center cells | High | Enhanced |
| appendix | goblet cells | High | Enhanced |
| appendix | non-germinal center cells | Medium | Enhanced |
| bone marrow | hematopoietic cells | Medium | Enhanced |
| breast | adipocytes | Low | Enhanced |
| breast | glandular cells | High | Enhanced |
| breast | myoepithelial cells | Low | Enhanced |
| bronchus | respiratory epithelial cells | Medium | Enhanced |
| caudate | glial cells | Low | Enhanced |
| caudate | neuronal cells | Low | Enhanced |
| cerebellum | Purkinje cells | Medium | Enhanced |
| cerebellum | cells in granular layer | Medium | Enhanced |
| cerebellum | cells in molecular layer | Medium | Enhanced |
| cerebral cortex | endothelial cells | Medium | Enhanced |
| cerebral cortex | glial cells | Medium | Enhanced |
| cerebral cortex | neuronal cells | Low | Enhanced |
| cerebral cortex | neuropil | Medium | Enhanced |
| cervix | glandular cells | Low | Enhanced |
| colon | endocrine cells | High | Enhanced |
| colon | endothelial cells | High | Enhanced |
| colon | enterocytes | High | Enhanced |
| colon | enterocytes - Microvilli | High | Enhanced |
| colon | fibroblasts | High | Enhanced |
| colon | goblet cells | High | Enhanced |
| colon | mucosal lymphoid cells | High | Enhanced |
| duodenum | endocrine cells | High | Enhanced |
| duodenum | enterocytes | High | Enhanced |
| duodenum | enterocytes - Microvilli | High | Enhanced |
| duodenum | glands of Brunner | Medium | Enhanced |
| duodenum | goblet cells | High | Enhanced |
| endometrium 1 | cells in endometrial stroma | Medium | Enhanced |
| endometrium 1 | glandular cells | High | Enhanced |
| endometrium 2 | cells in endometrial stroma | Medium | Enhanced |
| endometrium 2 | glandular cells | High | Enhanced |
| epididymis | glandular cells | Medium | Enhanced |
| esophagus | squamous epithelial cells | Low | Enhanced |
| fallopian tube | glandular cells | High | Enhanced |
| gallbladder | glandular cells | High | Enhanced |
| heart muscle | cardiomyocytes | Low | Enhanced |
| hippocampus | glial cells | Low | Enhanced |
| hippocampus | neuronal cells | Low | Enhanced |
| kidney | cells in glomeruli | High | Enhanced |
| kidney | cells in tubules | High | Enhanced |
| liver | cholangiocytes | Medium | Enhanced |
| liver | hepatocytes | Medium | Enhanced |
| lung | alveolar cells type II | High | Enhanced |
| lung | macrophages | High | Enhanced |
| lymph node | germinal center cells | High | Enhanced |
| lymph node | non-germinal center cells | High | Enhanced |
| nasopharynx | respiratory epithelial cells | Medium | Enhanced |
| oral mucosa | squamous epithelial cells | Low | Enhanced |
| ovary | follicle cells | Medium | Enhanced |
| ovary | ovarian stroma cells | Medium | Enhanced |
| pancreas | exocrine glandular cells | Medium | Enhanced |
| pancreas | pancreatic endocrine cells | Medium | Enhanced |
| parathyroid gland | glandular cells | High | Enhanced |
| placenta | decidual cells | High | Enhanced |
| placenta | trophoblastic cells | High | Enhanced |
| prostate | glandular cells | Medium | Enhanced |
| rectum | endocrine cells | High | Enhanced |
| rectum | endothelial cells | Medium | Enhanced |
| rectum | enterocytes | High | Enhanced |
| rectum | enterocytes - Microvilli | Medium | Enhanced |
| rectum | fibroblasts | Medium | Enhanced |
| rectum | goblet cells | High | Enhanced |
| rectum | mucosal lymphoid cells | High | Enhanced |
| rectum | peripheral nerve/ganglion | Medium | Enhanced |
| salivary gland | glandular cells | Low | Enhanced |
| seminal vesicle | glandular cells | Medium | Enhanced |
| skin 1 | cells in basal layer | Low | Enhanced |
| skin 1 | cells in granular layer | Low | Enhanced |
| skin 1 | cells in spinous layer | Low | Enhanced |
| skin 1 | endothelial cells | Medium | Enhanced |
| skin 1 | fibrohistiocytic cells | High | Enhanced |
| skin 1 | hair follicles | Medium | Enhanced |
| skin 1 | langerhans cells | Medium | Enhanced |
| skin 1 | lymphocytes | Medium | Enhanced |
| skin 1 | melanocytes | Low | Enhanced |
| skin 1 | vascular mural cells | Low | Enhanced |
| skin 2 | cells in basal layer | Medium | Enhanced |
| skin 2 | cells in granular layer | Low | Enhanced |
| skin 2 | cells in spinous layer | Medium | Enhanced |
| skin 2 | eccrine glands | Medium | Enhanced |
| skin 2 | endothelial cells | Medium | Enhanced |
| skin 2 | fibrohistiocytic cells | High | Enhanced |
| skin 2 | langerhans cells | Medium | Enhanced |
| skin 2 | lymphocytes | High | Enhanced |
| skin 2 | melanocytes | High | Enhanced |
| skin 2 | vascular mural cells | Medium | Enhanced |
| small intestine | endocrine cells | High | Enhanced |
| small intestine | enterocytes | High | Enhanced |
| small intestine | enterocytes - Microvilli | Medium | Enhanced |
| small intestine | goblet cells | High | Enhanced |
| small intestine | paneth cells | Medium | Enhanced |
| soft tissue 1 | fibroblasts | Low | Enhanced |
| soft tissue 1 | peripheral nerve | Low | Enhanced |
| spleen | cells in red pulp | High | Enhanced |
| stomach 1 | glandular cells | Medium | Enhanced |
| stomach 2 | glandular cells | Medium | Enhanced |
| testis | Leydig cells | High | Enhanced |
| testis | sertoli cells | Medium | Enhanced |
| thyroid gland | glandular cells | High | Enhanced |
| tonsil | germinal center cells | Medium | Enhanced |
| tonsil | non-germinal center cells | High | Enhanced |
| tonsil | squamous epithelial cells | Medium | Enhanced |
| urinary bladder | urothelial cells | High | Enhanced |
| vagina | squamous epithelial cells | Low | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| acute myeloid leukemia | MONDO:0018874 | C92 | chapter2, Neoplasms | OMIM:601626 | Orphanet:519 |