InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PIKFYVE

Summary

InnateDB Protein

IDBP-79760.6

Last Modified

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

Gene Symbol

PIKFYVE

Protein Name

phosphoinositide kinase, FYVE finger containing

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000308715

InnateDB Gene

IDBG-79756 (PIKFYVE)

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). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo- inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolar pathway and nuclear migration. 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:11706043, ECO:0000269PubMed:17556371}. Note=Mainly associated with membranes of the late endocytic pathway.

Disease Associations

Corneal dystrophy, fleck (CFD) [MIM:121850]: A form of stromal corneal dystrophy characterized by numerous small white flecks scattered in all levels of the stroma, with configurations varying from semicircular to wreath-like, curvilinear, or punctate. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision. {ECO:0000269PubMed:15902656}. 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 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000285	1-phosphatidylinositol-3-phosphate 5-kinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity
GO:0043813	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
GO:0046872	metal ion binding

Biological Process

GO:0006644	phospholipid metabolic process
GO:0006661	phosphatidylinositol biosynthetic process
GO:0034504	protein localization to nucleus
GO:0035556	intracellular signal transduction
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process
GO:0042147	retrograde transport, endosome to Golgi
GO:0044267	cellular protein metabolic process
GO:0044281	small molecule metabolic process
GO:0046854	phosphatidylinositol phosphorylation