InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FIG4

Summary

InnateDB Protein

IDBP-95180.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FIG4

Protein Name

FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)

Synonyms

ALS11; BTOP; CMT4J; dJ249I4.1; KIAA0274; SAC3; YVS;

Species

Homo sapiens

Ensembl Protein

ENSP00000230124

InnateDB Gene

IDBG-95178 (FIG4)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:17556371}.

Subcellular Localization

Endosome membrane {ECO:0000269PubMed:17556371}. Note=Localization requires VAC14 and PIKFYVE.

Disease Associations

Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269PubMed:17572665}. Note=The disease is caused by mutations affecting the gene represented in this entry.Amyotrophic lateral sclerosis 11 (ALS11) [MIM:612577]: 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. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269PubMed:19118816}. Note=The disease is caused by mutations affecting the gene represented in this entry.Yunis-Varon syndrome (YVS) [MIM:216340]: A severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy. {ECO:0000269PubMed:23623387}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004438	phosphatidylinositol-3-phosphatase activity
GO:0005515	protein binding
GO:0034593	phosphatidylinositol bisphosphate phosphatase activity
GO:0042578	phosphoric ester hydrolase activity
GO:0043812	phosphatidylinositol-4-phosphate phosphatase activity
GO:0043813	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity

Biological Process

GO:0006644	phospholipid metabolic process
GO:0006661	phosphatidylinositol biosynthetic process
GO:0007033	vacuole organization
GO:0007626	locomotory behavior
GO:0008219	cell death
GO:0010976	positive regulation of neuron projection development
GO:0016311	dephosphorylation
GO:0031642	negative regulation of myelination
GO:0032288	myelin assembly
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process
GO:0043473	pigmentation
GO:0044281	small molecule metabolic process
GO:0046488	phosphatidylinositol metabolic process
GO:0048666	neuron development

Cellular Component

GO:0000139	Golgi membrane
GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0010008	endosome membrane
GO:0031901	early endosome membrane
GO:0031902	late endosome membrane
GO:0055037	recycling endosome