InnateDB Protein
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IDBP-246132.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PIKFYVE
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Protein Name
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phosphoinositide kinase, FYVE finger containing
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000376038
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InnateDB Gene
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IDBG-79756 (PIKFYVE)
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Protein Structure
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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}.
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Subcellular Localization |
Endosome membrane {ECO:0000269PubMed:11706043, ECO:0000269PubMed:17556371}. Note=Mainly associated with membranes of the late endocytic pathway.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
11
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000591
DEP domain
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PFAM |
PF00610
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PRINTS |
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PIRSF |
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SMART |
SM00049
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y2I7
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PhosphoSite |
PhosphoSite-Q9Y2I7
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
200576
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UniGene |
Hs.732047
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RefSeq |
NP_689884
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HUGO |
HGNC:23785
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OMIM |
609414
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CCDS |
CCDS33368
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HPRD |
17852
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IMGT |
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EMBL |
AB023198
AC012362
AC016697
AK091482
AY457063
BC032389
BC125052
BC125053
CH471063
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GenPept |
AAH32389
AAI25053
AAI25054
AAR19397
AAX93222
AAY14870
BAA76825
BAC03674
EAW70444
EAW70445
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