FIG4

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]

Description

FIG4 phosphoinositide 5-phosphatase

Tissue specificity

Low tissue specificity

Subcell location

Vesicles, Lipid droplets

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

6 (109690609 - 109878098)

Ensembl ID

ENSG00000112367  (ver. 103.38)

Orthologs

Mouse Fig4: ENSMUSG00000038417

UniProt

Q92562

neXtProt

NX_Q92562

Human splice variants
Mouse splice variants

Protein structure