Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.7.1.137
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
phosphatidylinositol 3-kinase
2.7.1.153
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
phosphatidylinositol-4,5-bisphosphate 3-kinase
2.7.1.154
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
phosphatidylinositol-4-phosphate 3-kinase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2AR5 | 1.8 | Crystal structure of the mammalian C2alpha-PI3 Kinase PX-domain |
| 2IWL | 2.6 | Structure of the PX Domain of Phosphoinositide 3-Kinase-C2alpha |
| 2REA | 2.5 | Crystal structures of C2ALPHA-PI3 kinase PX-domain domain indicate conformational change associated with ligand binding. |
| 2RED | 2.1 | Crystal structures of C2ALPHA-PI3 kinase PX-domain domain indicate conformational change associated with ligand binding. |
| 6BTY | 1.678 | Crystal structure of the PI3KC2alpha C2 domain in space group P41212 |
| 6BTZ | 1.85 | Crystal structure of the PI3KC2alpha C2 domain in space group C121 |
| 6BU0 | 2.427 | Crystal structure of the PI3KC2alpha C2 domain in complex with IP6 |
| 6BUB | 2.604 | Crystal structure of the PI3KC2alpha PX domain in space group P432 |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0016477 | cell migration |
| Biological Process | GO:0048268 | clathrin coat assembly |
| Biological Process | GO:0006897 | endocytosis |
| Biological Process | GO:0007173 | epidermal growth factor receptor signaling pathway |
| Biological Process | GO:0006887 | exocytosis |
| Biological Process | GO:0008286 | insulin receptor signaling pathway |
| Biological Process | GO:0061024 | membrane organization |
| Biological Process | GO:0014065 | phosphatidylinositol 3-kinase signaling |
| Biological Process | GO:0006661 | phosphatidylinositol biosynthetic process |
| Biological Process | GO:0036092 | phosphatidylinositol-3-phosphate biosynthetic process |
| Biological Process | GO:0048008 | platelet-derived growth factor receptor signaling pathway |
| Biological Process | GO:0010508 | positive regulation of autophagy |
| Biological Process | GO:0090050 | positive regulation of cell migration involved in sprouting angiogenesis |
| Biological Process | GO:0014829 | vascular associated smooth muscle contraction |
| Molecular Function | GO:0016303 | 1-phosphatidylinositol-3-kinase activity |
| Molecular Function | GO:0035005 | 1-phosphatidylinositol-4-phosphate 3-kinase activity |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0030276 | clathrin binding |
| Molecular Function | GO:0035004 | phosphatidylinositol 3-kinase activity |
| Molecular Function | GO:0035091 | phosphatidylinositol binding |
| Molecular Function | GO:0052812 | phosphatidylinositol-3,4-bisphosphate 5-kinase activity |
| Molecular Function | GO:0046934 | phosphatidylinositol-4,5-bisphosphate 3-kinase activity |
| Cellular Component | GO:0030136 | clathrin-coated vesicle |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0043231 | intracellular membrane-bounded organelle |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005942 | phosphatidylinositol 3-kinase complex |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0005802 | trans-Golgi network |
| Cellular Component | GO:0031982 | vesicle |
| InterPro
|
InterPro name |
|---|---|
| IPR000008 | C2 domain |
| IPR000341 | Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain |
| IPR000403 | Phosphatidylinositol 3-/4-kinase, catalytic domain |
| IPR001263 | Phosphoinositide 3-kinase, accessory (PIK) domain |
| IPR001683 | Phox homology |
| IPR002420 | C2 phosphatidylinositol 3-kinase-type domain |
| IPR011009 | Protein kinase-like domain superfamily |
| IPR015433 | Phosphatidylinositol kinase |
| IPR016024 | Armadillo-type fold |
| IPR018936 | Phosphatidylinositol 3/4-kinase, conserved site |
| IPR029071 | Ubiquitin-like domain superfamily |
| IPR035892 | C2 domain superfamily |
| IPR036871 | PX domain superfamily |
| IPR036940 | Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily |
| IPR037705 | PI3K-C2-alpha, catalytic domain |
| IPR042133 | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha, PX domain |
| IPR042236 | Phosphoinositide 3-kinase, accessory (PIK) domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF00168 | C2 domain |
| PF00454 | Phosphatidylinositol 3- and 4-kinase |
| PF00613 | Phosphoinositide 3-kinase family, accessory domain (PIK domain) |
| PF00787 | PX domain |
| PF00792 | Phosphoinositide 3-kinase C2 |
| PF00794 | PI3-kinase family, ras-binding domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1660499 | Synthesis of PIPs at the plasma membrane | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-1660514 | Synthesis of PIPs at the Golgi membrane | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-1660516 | Synthesis of PIPs at the early endosome membrane | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-1660517 | Synthesis of PIPs at the late endosome membrane | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-432722 | Golgi Associated Vesicle Biogenesis | 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:0000269 | PubMed:10766823 |
| Cell membrane | ECO:0000269 | PubMed:11239472 |
| Cell membrane | ECO:0000269 | PubMed:17038310 |
| Cytoplasm | ECO:0000269 | PubMed:11606566 |
| Cytoplasm | ECO:0000269 | PubMed:14563213 |
| Cytoplasmic vesicle, clathrin-coated vesicle | ECO:0000269 | PubMed:10766823 |
| Cytoplasmic vesicle, clathrin-coated vesicle | ECO:0000269 | PubMed:11239472 |
| Golgi apparatus, trans-Golgi network | ECO:0000269 | PubMed:10766823 |
| Golgi apparatus, trans-Golgi network | ECO:0000269 | PubMed:11239472 |
| Nucleus | ECO:0000269 | PubMed:11606566 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000104 | Renal agenesis |
| HP:0000121 | Nephrocalcinosis |
| HP:0000158 | Macroglossia |
| HP:0000164 | Abnormality of the dentition |
| HP:0000278 | Retrognathia |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000294 | Low anterior hairline |
| HP:0000365 | Hearing impairment |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000501 | Glaucoma |
| HP:0000519 | Developmental cataract |
| HP:0000599 | Abnormality of the frontal hairline |
| HP:0000677 | Oligodontia |
| HP:0000691 | Microdontia |
| HP:0000766 | Abnormal sternum morphology |
| HP:0000821 | Hypothyroidism |
| HP:0001263 | Global developmental delay |
| HP:0001297 | Stroke |
| HP:0001328 | Specific learning disability |
| HP:0001518 | Small for gestational age |
| HP:0001744 | Splenomegaly |
| HP:0001999 | Abnormal facial shape |
| HP:0002150 | Hypercalciuria |
| HP:0002162 | Low posterior hairline |
| HP:0002240 | Hepatomegaly |
| HP:0002243 | Protein-losing enteropathy |
| HP:0002300 | Mutism |
| HP:0002650 | Scoliosis |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002901 | Hypocalcemia |
| HP:0002942 | Thoracic kyphosis |
| HP:0002987 | Elbow flexion contracture |
| HP:0003072 | Hypercalcemia |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis |
| HP:0003307 | Hyperlordosis |
| HP:0004322 | Short stature |
| HP:0005257 | Thoracic hypoplasia |
| HP:0005280 | Depressed nasal bridge |
| HP:0006297 | Enamel hypoplasia |
| HP:0006989 | Dysplastic corpus callosum |
| HP:0007042 | Focal white matter lesions |
| HP:0008155 | Mucopolysacchariduria |
| HP:0009237 | Short 5th finger |
| HP:0009928 | Thick nasal alae |
| HP:0010663 | Abnormality of thalamus morphology |
| HP:0010761 | Broad columella |
| HP:0011020 | Abnormality of mucopolysaccharide metabolism |
| HP:0012758 | Neurodevelopmental delay |
| HP:0030084 | Clinodactyly |
| HP:0032325 | Lacunar stroke |
| HP:0100255 | Metaphyseal dysplasia |
| HP:0100864 | Short femoral neck |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| oculocerebrodental syndrome | MONDO:0034145 | H90 | chapter8, Diseases of the ear and mastoid process | OMIM:618440 | Orphanet:557003 |