InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Fig4

Summary

InnateDB Protein

IDBP-146189.6

Last Modified

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

Gene Symbol

Fig4

Protein Name

FIG4 homolog (S. cerevisiae)

Synonyms

A530089I17Rik; AI326867; Sac3;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000039598

InnateDB Gene

IDBG-146187 (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:17572665, ECO:0000269PubMed:19037259}.

Subcellular Localization

Endosome membrane {ECO:0000269PubMed:19037259}. Note=Localization requires VAC14 and PIKFYVE.

Disease Associations

Note=Defects in Fig4 are the cause of the pale tremor phenotype which is a multi-organ disorder with neuronal degeneration in the central nervous system, peripheral neuronopathy and diluted pigmentation. At postnatal day three (P3), affected homozygotes have diluted pigmentation and reduced size. Intentional tremor develops during the second week after birth, and abnormal limb postures are evident by the third week. There is impaired motor coordination, muscle weakness and "swimming" gait. There is progressive loss of mobility, reduction in body weight and juvenile lethality. {ECO:0000269PubMed:17572665}.

Tissue Specificity

Wide-spread. {ECO:0000269PubMed:17572665}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Predicted by orthology
Total	4 [view]

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

Biological 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:0043473	pigmentation
GO:0046488	phosphatidylinositol metabolic process
GO:0048666	neuron development