Symbol: Name: ID: |
FIG4 FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) GFS:5959 |
Gene name: | FIG4 |
Chromosome: | 6q21 |
Previous Symbols: | KIAA0274 |
Previous Names: | KIAA0274, "FIG4 homolog (S. cerevisiae)" |
Aliases: | SAC3, hSac3, dJ249I4.1, ALS11, CMT4J |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2143585 | Rat Genome Database ID: | RGD:1311375 |
HGNC ID: | HGNC:16873 | RefSeq IDs: | NM_014845 |
Entrez Gene ID: | 9896 | Ensembl Gene ID: | ENSG00000112367 |
VEGA IDs: | OTTHUMG00000015352 | UniProt ID: | Q92562 |
UCSC ID: | uc003ptt.2 | OMIM ID: | 609390 |
Pubmed: | PMID9039502 PMID 11274189 PMID 17572665 | ||
CCDS IDs: | CCDSCCDS5078.1 |
Polyphosphoinositide phosphatase also known as phosphatidylinositol 3,5-bisphosphate 5-phosphatase or SAC domain-containing protein 3 (Sac3) is an enzyme that in humans is encoded by the FIG4 gene.
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. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol-3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.
Products for FIG4 gene
Catalog | Product Name | Application | Company |
GFS:E05959 | FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae); ELISA kit | ELISA | n/a |
GFS:A05959 | FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae); Anti | ANTIBODIES | n/a |
GFS:P05959 | FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae); Protien | Protien | n/a |