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:0006897 | endocytosis |
| Biological Process | GO:0016197 | endosomal transport |
| Molecular Function | GO:0045296 | cadherin binding |
| Molecular Function | GO:0005509 | calcium ion binding |
| Cellular Component | GO:0030132 | clathrin coat of coated pit |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0005886 | plasma membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-182971 | EGFR downregulation | Leaf | R-HSA-162582 | Signal Transduction |
| 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 |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell membrane | ECO:0000250 | |
| Membrane, coated pit | ECO:0000250 | |
| Nucleus | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000526 | Aniridia |
| HP:0001171 | Split hand |
| HP:0004050 | Absent hand |
| HP:0006101 | Finger syndactyly |
| HP:0012165 | Oligodactyly |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | High | Approved |
| appendix | lymphoid tissue | High | Approved |
| bone marrow | hematopoietic cells | High | Approved |
| breast | adipocytes | Low | Approved |
| breast | glandular cells | Medium | Approved |
| breast | myoepithelial cells | Medium | Approved |
| bronchus | respiratory epithelial cells | High | Approved |
| caudate | neuronal cells | High | Approved |
| cerebellum | Purkinje cells | High | Approved |
| cerebellum | cells in granular layer | Medium | Approved |
| cerebellum | cells in molecular layer | Medium | Approved |
| cerebral cortex | endothelial cells | High | Approved |
| cerebral cortex | neuronal cells | High | Approved |
| cerebral cortex | neuropil | Medium | Approved |
| cervix | glandular cells | Low | Approved |
| cervix | squamous epithelial cells | Medium | Approved |
| colon | endothelial cells | High | Approved |
| colon | glandular cells | High | Approved |
| colon | peripheral nerve/ganglion | High | Approved |
| duodenum | glandular cells | High | Approved |
| endometrium 1 | cells in endometrial stroma | Medium | Approved |
| endometrium 1 | glandular cells | High | Approved |
| endometrium 2 | cells in endometrial stroma | Medium | Approved |
| endometrium 2 | glandular cells | High | Approved |
| epididymis | glandular cells | High | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | glandular cells | High | Approved |
| gallbladder | glandular cells | High | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | neuronal cells | High | Approved |
| kidney | cells in glomeruli | Medium | Approved |
| kidney | cells in tubules | Medium | Approved |
| liver | cholangiocytes | Low | Approved |
| liver | hepatocytes | Low | Approved |
| lung | alveolar cells | Medium | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Medium | Approved |
| lymph node | non-germinal center cells | Medium | Approved |
| nasopharynx | respiratory epithelial cells | High | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| ovary | follicle cells | Medium | Approved |
| ovary | ovarian stroma cells | Medium | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | decidual cells | High | Approved |
| placenta | trophoblastic cells | High | Approved |
| prostate | glandular cells | Medium | Approved |
| rectum | glandular cells | High | Approved |
| salivary gland | glandular cells | Medium | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | Langerhans | Medium | Approved |
| skin 1 | fibroblasts | High | Approved |
| skin 1 | keratinocytes | Medium | 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 | fibroblasts | Medium | Approved |
| soft tissue 1 | peripheral nerve | Medium | Approved |
| soft tissue 2 | fibroblasts | Medium | Approved |
| spleen | cells in red pulp | Medium | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Low | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | germinal center cells | Medium | Approved |
| tonsil | non-germinal center cells | High | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Medium | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| split hand-foot malformation | MONDO:0016576 | Q71 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIMPS:183600 | Orphanet:2440 |
| split hand-foot malformation | MONDO:0016576 | Q72 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIMPS:183600 | Orphanet:2440 |