Rabbit anti-Human FIG4 Polyclonal Antibody

Uniprot Id

Q92562

Target Species

Human

Target Name

FIG4

Target Full Name

Polyphosphoinositide phosphatase

Target Function

Dual specificity phosphatase component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the dephosphorylation of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) to form phosphatidylinositol 3-phosphate. Has serine-protein phosphatase activity acting on PIKfyve to stimulate its lipid kinase activity, its catalytically activity being required for maximal PI(3,5)P2 production. In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide and although displaying preferences for PtdIns(3,5)P2, it is capable of hydrolyzing PtdIns(3,4,5)P3 and PtdIns(4,5)P2, at least in vitro.

Target Involvement

Charcot-Marie-Tooth disease 4J (CMT4J); Amyotrophic lateral sclerosis 11 (ALS11); Yunis-Varon syndrome (YVS); Polymicrogyria, bilateral temporooccipital (BTOP)

Target Subcellular Location

Endosome membrane.

Target Synonyms

5-bisphosphate 5-phosphatase; ALS 11; ALS11; BTOP; CMT4J; dJ249I4.; Fig4; FIG4 homolog (S cerevisiae); FIG4 homolog; FIG4 homolog SAC domain containing lipid phosphatase; FIG4 homolog SAC1 lipid phosphatase domain containing; FIG4 homolog; SAC1 lipid phosphatase domain containing (S cerevisiae; FIG4 phosphoinositide 5 phosphatase; FIG4_HUMAN; KIAA0274; phosphatidylinositol 3 5 bisphosphate 5 phosphatase; Phosphatidylinositol 3; Phosphatidylinositol 3,5 bisphosphate 5 phosphatase; Polyphosphoinositide phosphatase; RP1-249I4.1; SAC 3; Sac domain containing inositol phosphatase 3; SAC domain containing protein 3; SAC domain-containing protein 3; SAC3; YVS

Target Background

The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J.