Homo sapiens Protein: PIKFYVE
Summary
InnateDB Protein IDBP-79758.6
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 ENSP00000264380
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: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
Protein Structure and Domains
PDB ID
InterPro IPR000306 FYVE zinc finger
IPR000591 DEP domain
IPR002423 Chaperonin Cpn60/TCP-1
IPR002498 Phosphatidylinositol-4-phosphate 5-kinase, core
IPR011011 Zinc finger, FYVE/PHD-type
IPR016034 Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup
IPR017455 Zinc finger, FYVE-related
IPR027409 GroEL-like apical domain
PFAM PF01363
PF00610
PF00118
PF01504
PRINTS
PIRSF
SMART SM00064
SM00049
SM00330
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y2I7
PhosphoSite PhosphoSite-Q9Y2I7
TrEMBL
UniProt Splice Variant
Entrez Gene 200576
UniGene Hs.732047
RefSeq NP_055855
HUGO HGNC:23785
OMIM 609414
CCDS CCDS2382
HPRD 17852
IMGT
EMBL AB023198 AC012362 AC016697 AK091482 AY457063 BC032389 BC125052 BC125053 CH471063
GenPept AAH32389 AAI25053 AAI25054 AAR19397 AAX93222 AAY14870 BAA76825 BAC03674 EAW70444 EAW70445