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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Namephosphatidylinositol-4-phosphate 5-kinase type 1 gamma
OMIM IDMIM:606102
Ensembl IDEnsembl:ENSG00000186111
HGNC IDHGNC:HGNC:8996
PHARMGKB IDPA33329
Map Location19p13.3

Gene Categories:

KINASEDRUGGABLE GENOME

GO terms in PIP5K1C


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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
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Gene expression in normal tissue: PIP5K1C

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined26p53 pathway1Apoptosis regulation1Longevity regulating pathway1DNA replication1PI3K/MTOR signaling1Cell cycle1

Pathways in PIP5K1C


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD351 GW843682X 6
iGMDRD57 Chloropentafluorobenzene 3
iGMDRD154 NSC23766 2
iGMDRD405 PIK-75 4
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PIP5K1C

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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