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 |