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PIKFYVE Gene

protein-coding   GIFtS: 60
GCID: GC02P209130

Phosphoinositide Kinase, FYVE Finger Containing

(Previous names: phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase,...)
(Previous symbol: PIP5K3)
  See PIKFYVE-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphoinositide Kinase, FYVE Finger Containing1 2     FAB12
PIP5K31 2 3 5     HEL372
Phosphatidylinositol-3-Phosphate/Phosphatidylinositol 5-Kinase, Type III1 2     PIP5K2
Phosphatidylinositol 3-Phosphate 5-Kinase Type III2 3     ZFYVE292
Type III PIP Kinase2 3     Epididymis Luminal Protein 372
PIPkin-III2 3     Zinc Finger, FYVE Domain Containing 292
FYVE Domain Containing 291     EC 2.7.1.1503
Zinc Finger1     KIAA09813
1-Phosphatidylinositol 3-Phosphate 5-Kinase2     PIKfyve3
1-Phosphatidylinositol-3-Phosphate 5-Kinase2     FYVE Finger-Containing Phosphoinositide Kinase3
CFD2     Phosphatidylinositol 3-Phosphate 5-Kinase3

External Ids:    HGNC: 237851   Entrez Gene: 2005762   Ensembl: ENSG000001150207   OMIM: 6094145   UniProtKB: Q9Y2I73   

Export aliases for PIKFYVE gene to outside databases

Previous GC identifers: GC02P208840 GC02P200979


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PIKFYVE Gene:
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)

GeneCards Summary for PIKFYVE Gene:
PIKFYVE (phosphoinositide kinase, FYVE finger containing) is a protein-coding gene. Diseases associated with PIKFYVE include corneal fleck dystrophy, and transient neonatal diabetes mellitus. GO annotations related to this gene include 1-phosphatidylinositol-4-phosphate 5-kinase activity and 1-phosphatidylinositol-3-phosphate 5-kinase activity. An important paralog of this gene is ZFYVE9.

UniProtKB/Swiss-Prot: FYV1_HUMAN, Q9Y2I7
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

Gene Wiki entry for PIKFYVE Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the PIKFYVE gene promoter:
         STAT5B   Pax-5   HOXA3   MIF-1   Evi-1   C/EBPalpha   CHOP-10   c-Myb   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIKFYVE promoter sequence
   Search Chromatin IP Primers for PIKFYVE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIKFYVE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q34   Ensembl cytogenetic band:  2q34   HGNC cytogenetic band: 2q34

PIKFYVE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIKFYVE gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P209130:  view genomic region     (about GC identifiers)

Start:
209,130,991 bp from pter      End:
209,223,475 bp from pter
Size:
92,485 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FYV1_HUMAN, Q9Y2I7 (See protein sequence)
Recommended Name: 1-phosphatidylinositol 3-phosphate 5-kinase  
Size: 2098 amino acids; 237136 Da
Subunit: Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14.
VAC14 nucleates the assembly of the complex and serves as a scaffold
Sequence caution: Sequence=BAC03674.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q08AR7 Q08AR8 Q53ST3 Q53T36 Q8N5H0 Q8NB67
Alternative splicing: 4 isoforms:  Q9Y2I7-1   Q9Y2I7-2   Q9Y2I7-3   Q9Y2I7-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PIKFYVE: NX_Q9Y2I7

Explore proteomics data for PIKFYVE at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PIKFYVE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001171471.1  NP_055855.2  NP_689884.1  

    ENSEMBL proteins: 
     ENSP00000376038   ENSP00000407692   ENSP00000264380   ENSP00000384356   ENSP00000308715  
     ENSP00000414477   ENSP00000405736  
    Reactome Protein details: Q9Y2I7

    PIKFYVE Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PIKFYVE

     
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    antibodies-online proteins for PIKFYVE (5 products) 

     
    antibodies-online peptides for PIKFYVE

    PIKFYVE Antibody Products:

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    PIKFYVE Assay Products:

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    Cloud-Clone Corp. CLIAs for PIKFYVE
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    antibodies-online kits for PIKFYVE (16 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZFYVE: Zinc fingers, FYVE domain containing

    Selected InterPro protein domains (see all 13):
     IPR027484 PInositol-4-P-5-kinase_N
     IPR000306 Znf_FYVE
     IPR013083 Znf_RING/FYVE/PHD
     IPR002498 PInositol-4-P-5-kinase_core
     IPR011991 WHTH_DNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y2I7

    ProtoNet protein and cluster: Q9Y2I7

    2 Blocks protein domains:
    IPB000306 Zn-finger
    IPB002498 Phosphatidylinositol-4-phosphate 5-kinase


    UniProtKB/Swiss-Prot: FYV1_HUMAN, Q9Y2I7
    Similarity: Contains 1 DEP domain
    Similarity: Contains 1 FYVE-type zinc finger
    Similarity: Contains 1 PIPK domain


    Find genes that share domains with PIKFYVE           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FYV1_HUMAN, Q9Y2I7
    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
    Catalytic activity: ATP + 1-phosphatidyl-1D-myo-inositol 3-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol
    3,5-bisphosphate

         Enzyme Number (IUBMB): EC 2.7.1.1501

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00002851-phosphatidylinositol-3-phosphate 5-kinase activity IEA--
    GO:0005515protein binding IPI15046600
    GO:0005524ATP binding IEA--
    GO:0016307phosphatidylinositol phosphate kinase activity ----
    GO:00163081-phosphatidylinositol-4-phosphate 5-kinase activity TAS15046600
         
    Find genes that share ontologies with PIKFYVE           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PIKFYVE:
     Increased G2M DNA content 

         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Pikfyve) (see all 17):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  muscle  nervous system  normal 

    Find genes that share phenotypes with PIKFYVE           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pikfyvetm1.2Ashi for PIKFYVE

       genOway: Develop your customized and physiologically relevant rodent model for PIKFYVE

    miRNA
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    miRTarBase miRNAs that target PIKFYVE:
    hsa-mir-324-3p (MIRT042812), hsa-mir-328-3p (MIRT043808), hsa-mir-26a-5p (MIRT050096), hsa-mir-100-5p (MIRT048546), hsa-mir-744-5p (MIRT037422)

    Block miRNA regulation of human, mouse, rat PIKFYVE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PIKFYVE (see all 70):
    hsa-miR-106a hsa-miR-374a hsa-miR-519a hsa-miR-3916 hsa-miR-93 hsa-miR-200b hsa-miR-92b hsa-miR-130b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIKFYVE


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FYV1_HUMAN, Q9Y2I7: Endosome membrane. Note=Mainly associated with membranes of the late endocytic pathway
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    golgi apparatus4
    cytosol3
    nucleus3
    lysosome2
    vacuole2
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005829cytosol IEA--
    GO:0010008endosome membrane IDA17556371
    GO:0031410cytoplasmic vesicle IEA--
    GO:0031901early endosome membrane TAS--

    Find genes that share ontologies with PIKFYVE           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PIKFYVE About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the Golgi membrane0.00
    3-phosphoinositide biosynthesis0.47
    Synthesis of PIPs at the early endosome membrane0.00
    Synthesis of PIPs at the late endosome membrane0.00
    2Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    superpathway of inositol phosphate compounds0.60
    Phosphatidylinositol signaling system0.61
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Clathrin dependent protein traffic
    Transport Clathrin coated vesicle cycle0.66
    5Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64


    Find genes that share SuperPaths with PIKFYVE           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for PIKFYVE
        Transport Clathrin-coated vesicle cycle

    2 BioSystems Pathways for PIKFYVE
        3-phosphoinositide biosynthesis
    superpathway of inositol phosphate compounds

    3 Reactome Pathways for PIKFYVE
        Synthesis of PIPs at the late endosome membrane
    Synthesis of PIPs at the early endosome membrane
    Synthesis of PIPs at the Golgi membrane


    4 Kegg Pathways  (Kegg details for PIKFYVE):
        Inositol phosphate metabolism
    Phosphatidylinositol signaling system
    Phagosome
    Regulation of actin cytoskeleton

        Pathway & Disease-focused RT2 Profiler PCR Array including PIKFYVE: 
              Cytoskeleton Regulators in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PIKFYVE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PIKFYVE (Q9Y2I72, 3 ENSP000002643804) via UniProtKB, MINT, STRING, and/or I2D (see all 183)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VAC14Q08AM62, 3, ENSP000002617764MINT-7277788 I2D: score=5 STRING: ENSP00000261776
    PPP6CO007433, ENSP000003921474I2D: score=4 STRING: ENSP00000392147
    PSMD3O432423, ENSP000002646394I2D: score=3 STRING: ENSP00000264639
    MAPRE1Q156913, ENSP000003647214I2D: score=2 STRING: ENSP00000364721
    TADA2AO754783, ENSP000002253964I2D: score=2 STRING: ENSP00000225396
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0006898NOT receptor-mediated endocytosis IMP14551253
    GO:0032288myelin assembly IEA--
    GO:0034504protein localization to nucleus IMP17909029

    Find genes that share ontologies with PIKFYVE           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PIKFYVE (FYV1)

    3 HMDB Compounds for PIKFYVE    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Phosphatidyl-D-myo-inositol1-Phosphatidyl-1D-myo-inositol (see all 6)----
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    Selected Novoseek inferred chemical compound relationships for PIKFYVE gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoinositide 81.5 13 17010122 (1), 14614849 (1), 19582903 (1), 19171150 (1) (see all 10)
    ptdins(3)p 80.4 6 15591657 (1), 11431481 (1), 15546921 (1)
    phosphatidylinositol 68 27 11706043 (4), 11714711 (2), 19951917 (1), 11285266 (1) (see all 9)
    pip2 67.2 2 9832529 (2)
    lipid 46.6 13 11123925 (5), 11285266 (1), 11714711 (1), 11112776 (1) (see all 7)
    phosphonate 40.9 4 11706043 (2), 11714711 (1)
    inositol 1,4,5 trisphosphate 37.2 1 7674820 (1)
    tyrosine 36.7 4 19917259 (1), 11476939 (1), 9839541 (1)
    katp 36.4 4 10639183 (3)
    serine 27.7 6 20110679 (1), 19232516 (1), 17982255 (1), 17570343 (1) (see all 6)



    Find genes that share compounds with PIKFYVE           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PIKFYVE gene (4 alternative transcripts): 
    NM_001178000.1  NM_015040.3  NM_152671.3  NM_001002881.1  

    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392202(uc002vcw.3 uc002vcv.3 uc002vcx.3) ENST00000443896
    ENST00000264380(uc010fun.1 uc002vcy.1 uc002vcz.3) ENST00000407449
    ENST00000308862 ENST00000422495 ENST00000452564 ENST00000477200 ENST00000474721

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    Selected AceView cDNA sequences (see all 165):

    CR624088 NM_015040 AI382229 BE672369 Z44728 CR620960 AA442484 BI818267 
    AA330216 BX279732 BQ212580 AA595183 BX472852 NM_152671 AA488976 BQ226965 
    BE044493 W87701 BC032389 AA488753 BU182824 BG286248 AL120928 BF901308 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PIKFYVE    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^
    SP1:                                                                                -                                                                           
    SP2:                                                                          -     -                                                                           
    SP3:                                -                                               -                                                                           
    SP4:                          -     -                                                                                                                           

    ExUns: 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42
    SP1:                                                                                                                        
    SP2:                                                                                                                        
    SP3:                                                                                                                        
    SP4:                                                                                                                        


    ECgene alternative splicing isoforms for PIKFYVE

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PIKFYVE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATTTAAAA
    PIKFYVE Expression
    About this image

    PIKFYVE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIKFYVE Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including PIKFYVE: 
              Cytoskeleton Regulators in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PIKFYVE gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pikfyve1 , 5 phosphoinositide kinase, FYVE finger containing1, 5 85.94(n)1
    87.9(a)1
      1 (32.94 cM)5
    187111  NM_011086.21  NP_035216.21 
     651867505 
    chicken
    (Gallus gallus)
    Aves PIKFYVE1 phosphoinositide kinase, FYVE finger containing 77.8(n)
    87(a)
      424114  XM_004942678.1  XP_004942735.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIKFYVE6
    phosphoinositide kinase, FYVE finger containing
    83(a)
    1 ↔ 1
    4(90371996-90478503)
    zebrafish
    (Danio rerio)
    Actinopterygii pikfyve1 phosphoinositide kinase, FYVE finger containing 67.92(n)
    75.04(a)
      337690  NM_001127305.1  NP_001120777.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fab11 fab1 49.13(n)
    41.36(a)
      37033  NM_206158.2  NP_995880.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ppk-36
    Protein PPK-3 (ppk-3) mRNA, complete cds
    36(a)
    1 ↔ 1
    X(12968965-12975643) WBGene00004089
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FAB1(YFR019W)4 1-phosphatidylinositol-3-phosphate 5-kinase; vacuolar more   --   6(184502-191338) 850574  NP_116674.1 


    ENSEMBL Gene Tree for PIKFYVE (if available)
    TreeFam Gene Tree for PIKFYVE (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PIKFYVE gene
    ZFYVE92  ZFYVE162  ZFYVE212  ZFYVE282  

    Find genes that share paralogs with PIKFYVE           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PIKFYVE (see all 2020)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0253094
    Corneal dystrophy, fleck (CFD)4--see VAR_0253092 K R mis40--------
    rs561548081,2
    C,F--208517224(+) CGCTAT/CTAGTT 3 -- us2k14Minor allele frequency- C:0.12WA CSA EA 242
    rs1428676561,2
    --208517262(+) AGGAAC/TAGAAG 3 -- us2k10--------
    rs739837261,2
    C--208517323(+) TTGAAT/AGAAAG 3 -- us2k12Minor allele frequency- A:0.04WA 120
    rs1485162571,2
    C--208517374(+) CAGAT-/AAAATT 3 -- us2k10--------
    rs1474234921,2
    --208517621(+) AGTGCC/TTCTAT 3 -- us2k10--------
    rs1816980631,2
    --208517642(+) CTGCAA/GGTTAA 3 -- us2k10--------
    rs1390516661,2
    --208517735(+) TCGTCA/GTGGCT 3 -- us2k10--------
    rs1429568981,2
    --208517766(+) ATGATC/TTCTGT 3 -- us2k10--------
    rs1142265031,2
    C,F--208517783(+) TTCATA/GCTTTA 3 -- us2k11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for PIKFYVE (209130991 - 209223475 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PIKFYVE:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3137CNV Insertion18451855
    nsv460055CNV Loss19166990
    nsv819526CNV Loss19587683
    nsv437315CNV Loss16327808
    nsv875752CNV Loss21882294
    nsv834517CNV Loss17160897

    Human Gene Mutation Database (HGMD): PIKFYVE
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PIKFYVE
    DNA2.0 Custom Variant and Variant Library Synthesis for PIKFYVE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609414   
    OMIM disorders: 121850  
    UniProtKB/Swiss-Prot: FYV1_HUMAN, Q9Y2I7
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 2 diseases for PIKFYVE:    
    About MalaCards
    corneal fleck dystrophy    transient neonatal diabetes mellitus


    Find genes that share disorders with PIKFYVE           About GenesLikeMe

    1 Novoseek inferred disease relationship for PIKFYVE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma 0 1 9839541 (1)

    Genetic Association Database (GAD): PIKFYVE
    Human Genome Epidemiology (HuGE) Navigator: PIKFYVE (1 document)

    Export disorders for PIKFYVE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PIKFYVE gene, integrated from 10 sources (see all 117):
    (articles sorted by number of sources associating them with PIKFYVE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Phosphatidylinositol 3-phosphate-interacting domains in PIKfyve. Binding specificity and role in PIKfyve endomembrane localization. (PubMed id 11706043)1, 2, 9 Sbrissa D.... Shisheva A. (J. Biol. Chem. 2002)
    2. ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality. (PubMed id 18950639)1, 2, 9 Sbrissa D.... Shisheva A. (J. Mol. Biol. 2008)
    3. Core protein machinery for mammalian phosphatidylinositol 3,5- bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex. (PubMed id 17556371)1, 2, 9 Sbrissa D....Shisheva A. (J. Biol. Chem. 2007)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy. (PubMed id 15902656)1, 2 Li S.... Schorderet D.F. (Am. J. Hum. Genet. 2005)
    6. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (Anal. Chem. 2004)
    9. Phosphatidylinositol 5-phosphate biosynthesis is linked to PIKfyve and is involved in osmotic response pathway in mammalian cells. (PubMed id 12270933)1, 3 Sbrissa D....Shisheva A. (J. Biol. Chem. 2002)
    10. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (DNA Res. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 200576 HGNC: 23785 AceView: PIP5K3 Ensembl:ENSG00000115020 euGenes: HUgn200576
    ECgene: PIKFYVE Kegg: 200576 H-InvDB: PIKFYVE

    (According to HUGE)
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    HUGE: KIAA0981

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PIKFYVE Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PIKFYVE gene:
    Search GeneIP for patents involving PIKFYVE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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