NP_055660
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NCBI GenBank Nucleotide #
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[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
103,635 Da
NCBI Official Full Name
polyphosphoinositide phosphatase
NCBI Official Synonym Full Names
FIG4 phosphoinositide 5-phosphatase
NCBI Official Synonym Symbols
YVS; BTOP; SAC3; ALS11; CMT4J; KIAA0274; dJ249I4.1 [Similar Products]
NCBI Protein Information
polyphosphoinositide phosphatase
UniProt Protein Name
Polyphosphoinositide phosphatase
UniProt Synonym Protein Names
Phosphatidylinositol 3,5-bisphosphate 5-phosphatase; SAC domain-containing protein 3
UniProt Synonym Gene Names
UniProt Entry Name
FIG4_HUMAN
NCBI Summary for 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]
UniProt Comments for FIG4
SAC3: 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. Defects in FIG4 are the cause of Charcot-Marie-Tooth disease type 4J (CMT4J). CMT4J is a recessive demyelinating, severe form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. Defects in FIG4 are the cause of amyotrophic lateral sclerosis type 11 (ALS11). ALS is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10%.
Protein type: EC 3.1.3.-
Chromosomal Location of Human Ortholog: 6q21
Cellular Component: Golgi membrane; recycling endosome; early endosome membrane; endoplasmic reticulum; late endosome membrane; endosome membrane
Molecular Function: phosphatidylinositol-3-phosphatase activity; protein binding; phosphatidylinositol-4-phosphate phosphatase activity; phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
Biological Process: myelin formation; dephosphorylation; pigmentation; negative regulation of myelination; phospholipid metabolic process; phosphatidylinositol biosynthetic process; neuron development; locomotory behavior; vacuole organization and biogenesis
Disease: Charcot-marie-tooth Disease, Type 4j; Yunis-varon Syndrome; Amyotrophic Lateral Sclerosis 11; Polymicrogyria, Bilateral Temporooccipital
Research Articles on FIG4
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Products associated with anti-FIG4 antibody
Pathways associated with anti-FIG4 antibody
Diseases associated with anti-FIG4 antibody
Organs/Tissues associated with anti-FIG4 antibody
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