功能： catalytic activity:ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.,disease:Defects in PIP5K1C are the cause of lethal congenital contractural syndrome type 3 (LCCS3) [MIM:611369]; also known as multiple contractural syndrome Israeli Bedouin type B. LCCS is an autosomal recessive disorder characterized by early fetal hydrops and akinesia, the Pena-Shokeir phenotype, specific neuropathology with degeneration of anterior horn neurons and extreme skeletal muscle atrophy. LCCS3 patients present at birth with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. LCCS3 can be distinguished from the original LCCS by the absence of hydrops, fractures, and multiple pterygia.,enzyme regulation:Activated by interaction with TLN2.,function:Plays a role in membrane ruffling and assembly of clathrin-coated pits at the synapse. Mediates RAC1-dependent reorganization of actin filaments (By similarity). Participates in the biosynthesis of phosphatidylinositol-4,5-bisphosphate.,similarity:Contains 1 PI5K domain.,subcellular location:Cytoplasmic, associated with the plasma membrane. Detected in focal adhesion plaques, membrane ruffles and plasma membrane invaginations.,subunit:Interacts with TLN1 and CSK (By similarity). Interacts with TLN2 and ARF6.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane; Peripheral membrane protein; Cytoplasmic side . Endomembrane system . Cytoplasm . Cell junction, focal adhesion . Cell junction, adherens junction . Cell projection, ruffle membrane . Cell projection, phagocytic cup . Cell projection, uropodium . Detected in plasma membrane invaginations. Isoform 3 is detected in intracellular vesicle-like structures.; [Isoform 2]: Cytoplasm. Nucleus.
组织表达： [Isoform 1]: Isoform 1 is strongly expressed in brain and also detected in heart and lung. ; [Isoform 2]: Isoform 2 is strongly expressed in pancreas and liver and in lesser quantities in brain, heart, lung and kidney. ; [Isoform 3]: Isoform 3 is detected in large amounts in heart and large intestine, is also present in lung, pancreas and thyroid, and to a lesser extent in brain, stomach and kidney.
功能： catalytic activity:ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.,disease:Defects in PIP5K1C are the cause of lethal congenital contractural syndrome type 3 (LCCS3) [MIM:611369]; also known as multiple contractural syndrome Israeli Bedouin type B. LCCS is an autosomal recessive disorder characterized by early fetal hydrops and akinesia, the Pena-Shokeir phenotype, specific neuropathology with degeneration of anterior horn neurons and extreme skeletal muscle atrophy. LCCS3 patients present at birth with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. LCCS3 can be distinguished from the original LCCS by the absence of hydrops, fractures, and multiple pterygia.,enzyme regulation:Activated by interaction with TLN2.,function:Plays a role in membrane ruffling and assembly of clathrin-coated pits at the synapse. Mediates RAC1-dependent reorganization of actin filaments (By similarity). Participates in the biosynthesis of phosphatidylinositol-4,5-bisphosphate.,similarity:Contains 1 PI5K domain.,subcellular location:Cytoplasmic, associated with the plasma membrane. Detected in focal adhesion plaques, membrane ruffles and plasma membrane invaginations.,subunit:Interacts with TLN1 and CSK (By similarity). Interacts with TLN2 and ARF6.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane; Peripheral membrane protein; Cytoplasmic side . Endomembrane system . Cytoplasm . Cell junction, focal adhesion . Cell junction, adherens junction . Cell projection, ruffle membrane . Cell projection, phagocytic cup . Cell projection, uropodium . Detected in plasma membrane invaginations. Isoform 3 is detected in intracellular vesicle-like structures.; [Isoform 2]: Cytoplasm. Nucleus.
组织表达： [Isoform 1]: Isoform 1 is strongly expressed in brain and also detected in heart and lung. ; [Isoform 2]: Isoform 2 is strongly expressed in pancreas and liver and in lesser quantities in brain, heart, lung and kidney. ; [Isoform 3]: Isoform 3 is detected in large amounts in heart and large intestine, is also present in lung, pancreas and thyroid, and to a lesser extent in brain, stomach and kidney.
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