PIP5K1C
Summary: This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | MIM:606102 | Ensembl:ENSG00000186111 | HGNC:HGNC:8996 | PA33329 | 19p13.3 |
GO terms in PIP5K1C
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0006661 | phosphatidylinositol biosynthetic process |
| BP | TAS | GO:0006909 | phagocytosis |
| BP | TAS | GO:0014066 | regulation of phosphatidylinositol 3-kinase signaling |
| BP | TAS | GO:0016079 | synaptic vesicle exocytosis |
| BP | TAS | GO:0030036 | actin cytoskeleton organization |
| BP | TAS | GO:0030593 | neutrophil chemotaxis |
| BP | TAS | GO:0034333 | adherens junction assembly |
| BP | IEA | GO:0046854 | phosphatidylinositol phosphorylation |
| BP | TAS | GO:0048488 | synaptic vesicle endocytosis |
| BP | TAS | GO:0061024 | membrane organization |
| BP | TAS | GO:0072583 | clathrin-dependent endocytosis |
| BP | TAS | GO:0098609 | cell-cell adhesion |
| CC | IEA | GO:0001891 | phagocytic cup |
| CC | TAS | GO:0001931 | uropod |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0005925 | focal adhesion |
| CC | IDA | GO:0010008 | endosome membrane |
| CC | IEA | GO:0032587 | ruffle membrane |
| CC | IEA | GO:0098793 | presynapse |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | TAS | GO:0016308 | 1-phosphatidylinositol-4-phosphate 5-kinase activity |
| MF | TAS | GO:0052811 | 1-phosphatidylinositol-3-phosphate 4-kinase activity |
| MF | TAS | GO:0052812 | phosphatidylinositol-3,4-bisphosphate 5-kinase activity |
Gene expression in normal tissue: PIP5K1C
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PIP5K1C
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1257604 | PIP3 activates AKT signaling |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1483255 | PI Metabolism |
| reactome | R-HSA-1483257 | Phospholipid metabolism |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1660499 | Synthesis of PIPs at the plasma membrane |
| reactome | R-HSA-199418 | Negative regulation of the PI3K/AKT network |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-373755 | Semaphorin interactions |
| reactome | R-HSA-399955 | SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-556833 | Metabolism of lipids |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-6811558 | PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling |
| reactome | R-HSA-8856828 | Clathrin-mediated endocytosis |
| reactome | R-HSA-9006925 | Intracellular signaling by second messengers |
| wikipathways | WP23 | B Cell Receptor Signaling Pathway |
| wikipathways | WP306 | Focal Adhesion |
| wikipathways | WP51 | Regulation of Actin Cytoskeleton |
| netpath | Pathway_BCR | BCR |
| pid | arf6_traffickingpathway | Arf6 trafficking events |
| pid | ecadherin_nascentaj_pathway | E-cadherin signaling in the nascent adherens junction |
| pid | ecadherin_stabilization_pathway | Stabilization and expansion of the E-cadherin adherens junction |
| pid | ncadherinpathway | N-cadherin signaling events |
| pid | nectin_pathway | Nectin adhesion pathway |
| pid | rac1_pathway | RAC1 signaling pathway |
| pid | rhoa_pathway | RhoA signaling pathway |
| kegg | hsa00562 | Inositol phosphate metabolism - Homo sapiens (human) |
| kegg | hsa04070 | Phosphatidylinositol signaling system - Homo sapiens (human) |
| kegg | hsa04072 | Phospholipase D signaling pathway - Homo sapiens (human) |
| kegg | hsa04144 | Endocytosis - Homo sapiens (human) |
| kegg | hsa04510 | Focal adhesion - Homo sapiens (human) |
| kegg | hsa04666 | Fc gamma R-mediated phagocytosis - Homo sapiens (human) |
| kegg | hsa04810 | Regulation of actin cytoskeleton - Homo sapiens (human) |
| kegg | hsa05231 | Choline metabolism in cancer - Homo sapiens (human) |
| humancyc | PWY-6351 | D-myo-inositol (1,4,5)-trisphosphate biosynthesis |
| humancyc | PWY-6352 | 3-phosphoinositide biosynthesis |
| humancyc | PWY-6371 | superpathway of inositol phosphate compounds |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD351 | GW843682X | 6 |
| iGMDRD57 | Chloropentafluorobenzene | 3 |
| iGMDRD154 | NSC23766 | 2 |
| iGMDRD405 | PIK-75 | 4 |
| iGMDRD560 | MK-2206 | 2 |
| iGMDRD329 | Merck60 | 5 |
| iGMDRD367 | Ro 28-1675 | 2 |
| iGMDRD286 | Nsc 632839 | 2 |
| iGMDRD871 | BRD6368 | 2 |
| iGMDRD872 | BRD7137 | 2 |
| iGMDRD505 | Pevonedistat | 1 |
| iGMDRD103 | SN-38 | 5 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD271 | Brefeldin A | 3 |
| iGMDRD267 | Oligomycin A | 2 |
| iGMDRD705 | Nakiterpiosin | 2 |
| iGMDRD193 | Fqi1 | 2 |
| iGMDRD446 | LY 2183240 | 2 |
| iGMDRD466 | Chaetocin | 2 |
| iGMDRD420 | Leucascandrolide A | 5 |
| iGMDRD210 | AC55649 | 1 |
| iGMDRD151 | CHM-1 | 2 |
| iGMDRD554 | CHEMBL1434137 | 2 |
| iGMDRD494 | Neopeltolide | 1 |
| iGMDRD781 | Sirolimus | 4 |
| iGMDRD577 | BIX01294 | 1 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD64 | Parbendazole | 1 |
| iGMDRD255 | SB225002 | 1 |
| iGMDRD318 | PAC-1 | 1 |
| iGMDRD782 | DC-45-A2 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PIP5K1C
CLASSFICATION
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