Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2G30 | 1.6 | beta appendage of AP2 complexed with ARH peptide |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0042982 | amyloid precursor protein metabolic process |
| Biological Process | GO:0071345 | cellular response to cytokine stimulus |
| Biological Process | GO:0042632 | cholesterol homeostasis |
| Biological Process | GO:0008203 | cholesterol metabolic process |
| Biological Process | GO:0030301 | cholesterol transport |
| Biological Process | GO:0034383 | low-density lipoprotein particle clearance |
| Biological Process | GO:0090205 | positive regulation of cholesterol metabolic process |
| Biological Process | GO:1905581 | positive regulation of low-density lipoprotein particle clearance |
| Biological Process | GO:0048260 | positive regulation of receptor-mediated endocytosis |
| Biological Process | GO:1905602 | positive regulation of receptor-mediated endocytosis involved in cholesterol transport |
| Biological Process | GO:1904707 | positive regulation of vascular associated smooth muscle cell proliferation |
| Biological Process | GO:0031623 | receptor internalization |
| Biological Process | GO:0006898 | receptor-mediated endocytosis |
| Biological Process | GO:0090118 | receptor-mediated endocytosis involved in cholesterol transport |
| Biological Process | GO:0043393 | regulation of protein binding |
| Biological Process | GO:1903076 | regulation of protein localization to plasma membrane |
| Molecular Function | GO:0035650 | AP-1 adaptor complex binding |
| Molecular Function | GO:0035612 | AP-2 adaptor complex binding |
| Molecular Function | GO:0001540 | amyloid-beta binding |
| Molecular Function | GO:0035615 | clathrin adaptor activity |
| Molecular Function | GO:0030276 | clathrin binding |
| Molecular Function | GO:0050750 | low-density lipoprotein particle receptor binding |
| Molecular Function | GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding |
| Molecular Function | GO:0001784 | phosphotyrosine residue binding |
| Molecular Function | GO:0035591 | signaling adaptor activity |
| Molecular Function | GO:0030159 | signaling receptor complex adaptor activity |
| Cellular Component | GO:0030424 | axon |
| Cellular Component | GO:0009925 | basal plasma membrane |
| Cellular Component | GO:0030669 | clathrin-coated endocytic vesicle membrane |
| Cellular Component | GO:0009898 | cytoplasmic side of plasma membrane |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005769 | early endosome |
| Cellular Component | GO:0005883 | neurofilament |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0055037 | recycling endosome |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-196791 | Vitamin D (calciferol) metabolism | Leaf | R-HSA-1430728 | Metabolism |
| 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-8964026 | Chylomicron clearance | Leaf | R-HSA-382551 | Transport of small molecules |
| R-HSA-8964038 | LDL clearance | Leaf | R-HSA-382551 | Transport of small molecules |
| R-HSA-9758890 | Transport of RCbl within the body | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:12451172 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000799 | Renal steatosis |
| HP:0000822 | Hypertension |
| HP:0000991 | Xanthomatosis |
| HP:0001138 | Optic neuropathy |
| HP:0001397 | Hepatic steatosis |
| HP:0001645 | Sudden cardiac death |
| HP:0001653 | Mitral regurgitation |
| HP:0001658 | Myocardial infarction |
| HP:0001677 | Coronary artery atherosclerosis |
| HP:0001681 | Angina pectoris |
| HP:0001920 | Renal artery stenosis |
| HP:0002094 | Dyspnea |
| HP:0002155 | Hypertriglyceridemia |
| HP:0002621 | Atherosclerosis |
| HP:0002829 | Arthralgia |
| HP:0003077 | Hyperlipidemia |
| HP:0003124 | Hypercholesterolemia |
| HP:0003141 | Increased LDL cholesterol concentration |
| HP:0003563 | Decreased LDL cholesterol concentration |
| HP:0004381 | Supravalvular aortic stenosis |
| HP:0004416 | Precocious atherosclerosis |
| HP:0004950 | Peripheral arterial stenosis |
| HP:0004963 | Calcification of the aorta |
| HP:0005162 | Abnormal left ventricular function |
| HP:0005177 | Premature arteriosclerosis |
| HP:0005181 | Premature coronary artery atherosclerosis |
| HP:0006693 | Myocardial steatosis |
| HP:0007201 | Cerebral artery atherosclerosis |
| HP:0010874 | Tendon xanthomatosis |
| HP:0012373 | Abnormal eye physiology |
| HP:0012397 | Aortic atherosclerotic lesion |
| HP:0012638 | Abnormal nervous system physiology |
| HP:0030148 | Heart murmur |
| HP:0030882 | Coronary artery aneurysm |
| HP:0100261 | Abnormal tendon morphology |
| HP:3000062 | Abnormal internal carotid artery morphology |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| hypercholesterolemia, familial, 4 | MONDO:0011374 | E78 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:603813 |