Version 5.4
Homo sapiens Gene: PIKFYVE
Summary
InnateDB Gene IDBG-79756.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PIKFYVE
Gene Name phosphoinositide kinase, FYVE finger containing
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000115020
Encoded Proteins
IDBP-79758
phosphoinositide kinase, FYVE finger containing
IDBP-79760
phosphoinositide kinase, FYVE finger containing
IDBP-246132
phosphoinositide kinase, FYVE finger containing
IDBP-293106
phosphoinositide kinase, FYVE finger containing
IDBP-388656
phosphoinositide kinase, FYVE finger containing
IDBP-388657
phosphoinositide kinase, FYVE finger containing
IDBP-388658
phosphoinositide kinase, FYVE finger containing
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:208266267-208358751
Strand Forward strand
Band q34
Transcripts
ENST00000264380 ENSP00000264380
ENST00000308862 ENSP00000308715
ENST00000392202 ENSP00000376038
ENST00000407449 ENSP00000384356
ENST00000443896 ENSP00000407692
ENST00000422495 ENSP00000414477
ENST00000452564 ENSP00000405736
ENST00000477200
ENST00000474721
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:0008270 zinc ion binding
GO:0016307 phosphatidylinositol phosphate kinase activity
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:0032288 myelin assembly
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:0046488 phosphatidylinositol metabolic process
GO:0046854 phosphatidylinositol phosphorylation
Cellular Component
GO:0000139 Golgi membrane
GO:0005829 cytosol
GO:0005911 cell-cell junction
GO:0010008 endosome membrane
GO:0012506 vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0031901 early endosome membrane
GO:0031902 late endosome membrane
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025949
View Gene Order
ENSBTAG00000002177
Not yet available
Pathways
NETPATH
REACTOME
REACT_120756
Synthesis of PIPs at the early endosome membrane pathway
REACT_120836
Synthesis of PIPs at the Golgi membrane pathway
REACT_120918
Synthesis of PIPs at the late endosome membrane pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_121175
PI Metabolism pathway
REACT_120870
Phospholipid metabolism pathway
REACT_111217
Metabolism pathway
KEGG
hsa04810
Regulation of actin cytoskeleton pathway
hsa00562
Inositol phosphate metabolism pathway
hsa04070
Phosphatidylinositol signaling system pathway
hsa04145
Phagosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.173939 Hs.633532 Hs.732047
RefSeq NM_001178000 NM_015040 NM_152671 XM_006712363
HUGO
OMIM
CCDS CCDS2382 CCDS33368 CCDS54431
HPRD 17852
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca