Aliases for INPP5D Gene
- Phosphatidylinositol 3,4,5-Trisphosphate 5-Phosphatase 1 3
- Signaling Inositol Polyphosphate 5 Phosphatase SIP-145 3
- Signaling Inositol Polyphosphate Phosphatase SHIP II 3
- Inositol Polyphosphate-5-Phosphatase Of 145 KDa 4
- SH2 Domain-Containing Inositol Phosphatase 1 4
- EC 3.1.3.n1 63
- EC 188.8.131.52 4
- EC 3.1.3 63
External Ids for INPP5D Gene
This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
GeneCards Summary for INPP5D Gene
INPP5D (Inositol Polyphosphate-5-Phosphatase, 145kDa) is a Protein Coding gene. Diseases associated with INPP5D include oculocerebrorenal syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and Hemostasis. GO annotations related to this gene include SH3 domain binding and PTB domain binding. An important paralog of this gene is SYNJ2.
UniProtKB/Swiss-Prot for INPP5D Gene
Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Acts as a negative regulator of B-cell antigen receptor signaling. Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Acts as a negative regulator of myeloid cell proliferation/survival and chemotaxis, mast cell degranulation, immune cells homeostasis, integrin alpha-IIb/beta-3 signaling in platelets and JNK signaling in B-cells. Regulates proliferation of osteoclast precursors, macrophage programming, phagocytosis and activation and is required for endotoxin tolerance. Involved in the control of cell-cell junctions, CD32a signaling in neutrophils and modulation of EGF-induced phospholipase C activity. Key regulator of neutrophil migration, by governing the formation of the leading edge and polarization required for chemotaxis. Modulates FCGR3/CD16-mediated cytotoxicity in NK cells. Mediates the activin/TGF-beta-induced apoptosis through its Smad-dependent expression. May also hydrolyze PtdIns(1,3,4,5)P4, and could thus affect the levels of the higher inositol polyphosphates like InsP6.