Official symbol | PIP5K1C |
Gene id | 23396 |
Organism | Homo sapiens |
Official full symbol | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma |
Gene type | protein-coding |
Also known as | LCCS3, PIP5K-GAMMA, PIP5K1-gamma, PIP5Kgamma |
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. |
Genomic regions | Chromosome 19 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
PIP5K1C-201 | ENST00000335312.8 | 5069 | 668aa | Protein coding | CCDS32872 | O60331-1 | NM_012398.3 | TSL:1, GENCODE basic, APPRIS ALT2, MANE Select v0.92, |
PIP5K1C-205 | ENST00000589578.5 | 2933 | 707aa | Protein coding | CCDS74257 | O60331-3 | - | TSL:1, GENCODE basic, APPRIS P4, |
PIP5K1C-203 | ENST00000539785.5 | 2289 | 640aa | Protein coding | CCDS56074 | O60331-4 | - | TSL:2, GENCODE basic, APPRIS ALT2, |
PIP5K1C-210 | ENST00000679885.1 | 5069 | 694aa | Protein coding | - | - | - | GENCODE basic, APPRIS ALT2, |
PIP5K1C-202 | ENST00000537021.1 | 3326 | 700aa | Protein coding | - | O60331-2 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
PIP5K1C-209 | ENST00000679828.1 | 5223 | 204aa | Nonsense mediated decay | - | - | - | - |
PIP5K1C-204 | ENST00000587482.1 | 1311 | No protein | Processed transcript | - | - | - | TSL:5, |
PIP5K1C-206 | ENST00000592530.1 | 456 | No protein | Processed transcript | - | - | - | TSL:5, |
PIP5K1C-208 | ENST00000637724.1 | 435 | No protein | Processed transcript | - | - | - | TSL:3, |
PIP5K1C-207 | ENST00000636612.1 | 153 | No protein | Processed transcript | - | - | - | TSL:5, |
Target Gene | PIP5K1C |
This KO Strategy | loading |
Red Cotton™ Notes | Gene PIP5K1C had been KO in hela cell line. |
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