Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2EJ8 | 1.84 | Crystal structure of APPL1 PTB domain at 1.8A |
| 2ELA | 2.0 | Crystal Structure of the PTB domain of human APPL1 |
| 2ELB | 2.6 | Crystal Structure of the BAR-PH domain of human APPL1 |
| 2Q12 | 1.79 | Crystal Structure of BAR domain of APPL1 |
| 2Q13 | 2.05 | Crystal structure of BAR-PH domain of APPL1 |
| 2Z0N | 1.95 | Crystal structure of APPL1-BAR domain |
| 2Z0O | 2.58 | Crystal structure of APPL1-BAR-PH domain |
| 5C5B | 2.9 | Crystal Structure of Human APPL BAR-PH Heterodimer |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0033211 | adiponectin-activated signaling pathway |
| Biological Process | GO:0007049 | cell cycle |
| Biological Process | GO:0035729 | cellular response to hepatocyte growth factor stimulus |
| Biological Process | GO:0008286 | insulin receptor signaling pathway |
| Biological Process | GO:0099558 | maintenance of synapse structure |
| Biological Process | GO:1905450 | negative regulation of Fc-gamma receptor signaling pathway involved in phagocytosis |
| Biological Process | GO:1900017 | positive regulation of cytokine production involved in inflammatory response |
| Biological Process | GO:0046326 | positive regulation of glucose import |
| Biological Process | GO:1905303 | positive regulation of macropinocytosis |
| Biological Process | GO:0048023 | positive regulation of melanin biosynthetic process |
| Biological Process | GO:0006606 | protein import into nucleus |
| Biological Process | GO:2000045 | regulation of G1/S transition of mitotic cell cycle |
| Biological Process | GO:0010762 | regulation of fibroblast migration |
| Biological Process | GO:0046324 | regulation of glucose import |
| Biological Process | GO:0045088 | regulation of innate immune response |
| Biological Process | GO:1903076 | regulation of protein localization to plasma membrane |
| Biological Process | GO:0034143 | regulation of toll-like receptor 4 signaling pathway |
| Biological Process | GO:0007165 | signal transduction |
| Biological Process | GO:0023052 | signaling |
| Biological Process | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| Molecular Function | GO:0048487 | beta-tubulin binding |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0035091 | phosphatidylinositol binding |
| Molecular Function | GO:0001786 | phosphatidylserine binding |
| Molecular Function | GO:0042803 | protein homodimerization activity |
| Molecular Function | GO:0043422 | protein kinase B binding |
| Molecular Function | GO:0044877 | protein-containing complex binding |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0031410 | cytoplasmic vesicle |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005769 | early endosome |
| Cellular Component | GO:0031901 | early endosome membrane |
| Cellular Component | GO:0032009 | early phagosome |
| Cellular Component | GO:0005768 | endosome |
| Cellular Component | GO:0010008 | endosome membrane |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0098978 | glutamatergic synapse |
| Cellular Component | GO:0097708 | intracellular vesicle |
| Cellular Component | GO:0044354 | macropinosome |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0098794 | postsynapse |
| Cellular Component | GO:0098793 | presynapse |
| Cellular Component | GO:0001726 | ruffle |
| Cellular Component | GO:0012506 | vesicle membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR001849 | Pleckstrin homology domain |
| IPR004148 | BAR domain |
| IPR006020 | PTB/PI domain |
| IPR011993 | PH-like domain superfamily |
| IPR027267 | AH/BAR domain superfamily |
| IPR037929 | DCC-interacting protein 13-alpha, BAR domain |
| IPR047181 | DCC-interacting protein 13-alpha/beta |
| IPR047236 | DCC-interacting protein 13-alpha/beta, PH domain |
| IPR047237 | DCC-interacting protein 13-alpha/beta, PTB domain |
| Pfam
|
Pfam name |
|---|---|
| PF00169 | PH domain |
| PF00640 | Phosphotyrosine interaction domain (PTB/PID) |
| PF16746 | BAR domain of APPL family |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-418889 | Caspase activation via Dependence Receptors in the absence of ligand | Leaf | R-HSA-5357801 | Programmed Cell Death |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell projection, ruffle | ECO:0000250 | |
| Cytoplasm | ECO:0000269 | PubMed:19433865 |
| Cytoplasm | ECO:0000269 | PubMed:19661063 |
| Cytoplasmic vesicle, phagosome | ECO:0000250 | |
| Early endosome membrane | ECO:0000269 | PubMed:15016378 |
| Early endosome membrane | ECO:0000269 | PubMed:20133602 |
| Early endosome membrane | ECO:0000269 | PubMed:21645192 |
| Endosome | ECO:0000269 | PubMed:26583432 |
| Nucleus | ECO:0000269 | PubMed:15016378 |
| Nucleus | ECO:0000269 | PubMed:19433865 |
| Nucleus | ECO:0000269 | PubMed:26583432 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000077 | Abnormality of the kidney |
| HP:0000107 | Renal cyst |
| HP:0000112 | Nephropathy |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0000488 | Retinopathy |
| HP:0000819 | Diabetes mellitus |
| HP:0000825 | Hyperinsulinemic hypoglycemia |
| HP:0000831 | Insulin-resistant diabetes mellitus |
| HP:0000956 | Acanthosis nigricans |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001513 | Obesity |
| HP:0001520 | Large for gestational age |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0001952 | Glucose intolerance |
| HP:0001953 | Diabetic ketoacidosis |
| HP:0001998 | Neonatal hypoglycemia |
| HP:0002594 | Pancreatic hypoplasia |
| HP:0003074 | Hyperglycemia |
| HP:0003076 | Glycosuria |
| HP:0003596 | Middle age onset |
| HP:0004904 | Maturity-onset diabetes of the young |
| HP:0004924 | Abnormal oral glucose tolerance |
| HP:0008255 | Transient neonatal diabetes mellitus |
| HP:0011462 | Young adult onset |
| HP:0012028 | Hepatocellular adenoma |
| HP:0025502 | Overweight |
| HP:0030057 | Autoimmune antibody positivity |
| HP:0030794 | Abnormal circulating C-peptide concentration |
| HP:0040214 | Abnormal circulating insulin concentration |
| HP:0040216 | Hypoinsulinemia |
| HP:0040217 | Elevated hemoglobin A1c |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Low | Approved |
| appendix | glandular cells | Medium | Approved |
| appendix | lymphoid tissue | Medium | Approved |
| bone marrow | hematopoietic cells | Low | Approved |
| breast | glandular cells | Medium | Approved |
| bronchus | respiratory epithelial cells | Low | Approved |
| caudate | neuronal cells | Low | Approved |
| cerebellum | Purkinje cells | Medium | Approved |
| cerebellum | cells in granular layer | Low | Approved |
| cerebral cortex | endothelial cells | Low | Approved |
| cerebral cortex | neuronal cells | Low | Approved |
| cerebral cortex | neuropil | Medium | Approved |
| cervix | glandular cells | Low | Approved |
| colon | endothelial cells | Low | Approved |
| colon | glandular cells | Medium | Approved |
| colon | peripheral nerve/ganglion | Low | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | Medium | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| hippocampus | neuronal cells | Medium | Approved |
| kidney | cells in glomeruli | Medium | Approved |
| kidney | cells in tubules | Medium | Approved |
| lung | macrophages | Low | Approved |
| lymph node | germinal center cells | Low | Approved |
| lymph node | non-germinal center cells | High | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Low | Approved |
| ovary | follicle cells | Medium | Approved |
| ovary | ovarian stroma cells | Low | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | Low | Approved |
| placenta | decidual cells | Medium | Approved |
| placenta | trophoblastic cells | Low | Approved |
| prostate | glandular cells | Low | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Medium | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skin 1 | keratinocytes | Medium | Approved |
| skin 2 | epidermal cells | Medium | Approved |
| small intestine | glandular cells | Low | Approved |
| spleen | cells in red pulp | Low | Approved |
| spleen | cells in white pulp | Medium | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Low | Approved |
| testis | cells in seminiferous ducts | Low | Approved |
| thyroid gland | glandular cells | Low | Approved |
| tonsil | germinal center cells | High | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| maturity-onset diabetes of the young type 14 | MONDO:0014674 | E11 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:616511 |