| 简介 | This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]
Diseases associated with INPP4A include Dyskeratosis Congenita, Autosomal Dominant 1 and Dyskeratosis Congenita, Autosomal Dominant 2. Among its related pathways are PI Metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity and phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity. An important paralog of this gene is INPP4B.
Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:15716355, 20463662).
Catalyzes also inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate (By similarity).
Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (By similarity) (PubMed:30071275).
May protect neurons from excitotoxic cell death by regulating the synaptic localization of cell surface N-methyl-D-aspartate-type glutamate receptors (NMDARs) and NMDAR-mediated excitatory postsynaptic current (By similarity).
[Isoform 4]: Displays no 4-phosphatase activity for PtdIns(3,4)P2, Ins(3,4)P2, or Ins(1,3,4)P3.
Early endosome membrane {ECO:0000269 PubMed:15716355}4
Recycling endosome membrane {ECO:0000269 PubMed:15716355}
Cell membrane {ECO:0000269 PubMed:15716355}4
Nucleus {ECO:0000269 PubMed:30071275}5
Cytoplasm {ECO:0000269 PubMed:30071275}4
Postsynaptic density {ECO:0000250 UniProtKB:Q9EPW0}
Note: Translocates to the plasma membrane upon EGF stimulation (PubMed:15716355). Shuttles between the cytoplasm and the nucleus, depending on the cell cycle stage, with highest amounts detected in the nucleus during the G0/G1phase (PubMed:30071275) {ECO:0000269 PubMed:15716355, 30071275}
Quaternary structure:
Interacts with INPP5F. |
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