PIP5K1C, Official Symbol PIP5K1Cprovided by HGNC Official Full Name phosphatidylinositol-4-phosphate 5-kinase type 1 gammaprovided by HGNC Primary source HGNC:HGNC:8996 See related Ensembl:ENSG00000186111 MIM:606102; AllianceGenome:HGNC:8996 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LCCS3; PIP5Kgamma; PIP5K-GAMMA; PIP5K1-gamma 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] Expression Broad expression in testis (RPKM 14.7), brain (RPKM 13.9) and 25 other tissues See more Orthologs mouse all