Fig4
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| FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) | |||||||
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| Identifiers | |||||||
| Symbols | FIG4; KIAA0274; SAC3; dJ249I4.1; hSac3 | ||||||
| External IDs | OMIM: 609390 MGI: 2143585 HomoloGene: 6713 GeneCards: FIG4 Gene | ||||||
| EC number | 3.1.3.- | ||||||
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| Orthologs | |||||||
| Species | Human | Mouse | |||||
| Entrez | 9896 | 103199 | |||||
| Ensembl | ENSG00000112367 | ENSMUSG00000038417 | |||||
| UniProt | Q92562 | Q3TA31 | |||||
| RefSeq (mRNA) | NM_014845 | NM_133999 | |||||
| RefSeq (protein) | NP_055660 | NP_598760 | |||||
| Location (UCSC) | Chr 6: 110.12 - 110.25 Mb | Chr 10: 40.88 - 40.99 Mb | |||||
| PubMed search | [1] | [2] | |||||
Polyphosphoinositide phosphatase also known as phosphatidylinositol 3,5-bisphosphate 5-phosphatase or SAC domain-containing protein 3 is an enzyme that in humans is encoded by the FIG4 gene.
Function
SAC domain-containing protein 3 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. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells.
Fig4 exists in a complex with the lipid kinase PIKFYVE and the scaffolding protein Vac14 in yeast, this complex also contains Atg18 and Vac7. The roles of the mammalian orthologues of Vac7 and Atg18 have not yet been established.
Clinical significance
Mutations in this gene have been associated with Charcot–Marie–Tooth disease, type 4J.
References
Further reading
Retrieved from : http://en.wikipedia.org/wiki/Fig4
