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PIP5K1C (NM_012398) - phosphatidylinositol-4-phosphate 5-kinase type 1 gamma

Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Gamma Isoform 2

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of PIP5K1C protein. View all 3 isoforms
PIP5K1C: phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 2
Description:

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
668 residues
All mutations
109
PTM sites
26
CDS
3,633,164 - 3,700,388
Transcription
3,630,178 - 3,700,477
47.01% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 23396
UniProt
Ensembl