PIP5K1C (NM_001195733) - phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Gamma Isoform 1
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Protein
Kinases
Sites
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Protein 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].
- Strand
- -
- Chromosome
- 19
- Protein
- 640 residues
- All mutations
- 100
- PTM sites
- 22
- CDS
- 3,633,164 - 3,700,388
- Transcription
- 3,630,178 - 3,700,477
Usage summary
Network
PTM site
Kinases group
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Kinase, PTM site or protein
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