Display Settings:

Format

Send to:

Choose Destination

    PIKFYVE phosphoinositide kinase, FYVE finger containing [ Homo sapiens ]

    Gene ID: 200576, updated on 20-May-2012

    Summary

    Official Symbol
    PIKFYVEprovided by HGNC
    Official Full Name
    phosphoinositide kinase, FYVE finger containingprovided by HGNC
    Primary source
    HGNC:23785
    See related
    Ensembl:ENSG00000115020; HPRD:17852; MIM:609414; Vega:OTTHUMG00000132945
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CFD; FAB1; PIP5K; PIP5K3; FLJ37746; KIAA0981; MGC40423
    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]

    Genomic context

    Location :
    2q34
    Sequence :
    Chromosome: 2; NC_000002.11 (209130991..209223475)
    See PIKFYVE in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene isocitrate dehydrogenase 1 (NADP+), soluble Neighboring gene IDH1 antisense RNA 1 (non-protein coding) Neighboring gene myosin, light chain 6B, alkali, smooth muscle and non-muscle pseudogene Neighboring gene actin related protein 2/3 complex, subunit 1A, 41kDa pseudogene Neighboring gene parathyroid hormone 2 receptor

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9Y2I7 Q7Z6M1 RABEPK    HPRD  PubMed  
    BioGRID:128336 BioGRID:107076 BCL6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:128336 BioGRID:115538 RABEPK    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid 
    BioGRID:128336 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:128336 BioGRID:120822 VAC14    BioGRID  PubMed Two-hybrid 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    1-phosphatidylinositol-3-phosphate 5-kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    1-phosphatidylinositol-4-phosphate 5-kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular protein metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT receptor-mediated endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    early endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    1-phosphatidylinositol 3-phosphate 5-kinase
    Names
    1-phosphatidylinositol 3-phosphate 5-kinase
    PIPkin-III
    type III PIP kinase
    1-phosphatidylinositol-3-phosphate 5-kinase
    phosphatidylinositol 3-phosphate 5-kinase type III
    phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III
    NP_001171471.1
    NP_055855.2
    NP_689884.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021188.1 RefSeqGene

      Range
      5001..97485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178000.1NP_001171471.1  1-phosphatidylinositol 3-phosphate 5-kinase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks all of the 3' coding region and UTR, compared to variant 2. The encoded protein (isoform 4) has an identical N-terminus but a short novel C-terminus, compared to isoform 2.
      Source sequence(s)
      BC032389, BC125053
      Consensus CDS
      CCDS54431.1
      UniProtKB/Swiss-Prot
      Q9Y2I7
      Related
      ENSP00000384356, OTTHUMP00000198101, ENST00000407449, OTTHUMT00000319312
      Conserved Domains (3) summary
      cd00065
      Location:161213
      Blast Score: 192
      FYVE; FYVE domain; Zinc-binding domain; targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P; present in Fab1, YOTB, Vac1, and EEA1;
      cd04448
      Location:357438
      Blast Score: 401
      DEP_PIKfyve; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in fungal RhoGEF (GDP/GTP exchange factor) PIKfyve-like proteins. PIKfyve contains N-terminal Fyve finger and DEP domains, a central chaperonin-like domain and a C-terminal PIPK (phosphatidylinositol ...
      pfam01363
      Location:154219
      Blast Score: 223
      FYVE; FYVE zinc finger
    2. NM_015040.3NP_055855.2  1-phosphatidylinositol 3-phosphate 5-kinase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AB023198, AC012362, AY457063
      Consensus CDS
      CCDS2382.1
      UniProtKB/Swiss-Prot
      Q9Y2I7
      Related
      ENSP00000264380, OTTHUMP00000163872, ENST00000264380, OTTHUMT00000256477
      Conserved Domains (5) summary
      cd00065
      Location:161213
      Blast Score: 202
      FYVE; FYVE domain; Zinc-binding domain; targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P; present in Fab1, YOTB, Vac1, and EEA1;
      cd03334
      Location:633877
      Blast Score: 970
      Fab1_TCP; TCP-1 like domain of the eukaryotic phosphatidylinositol 3-phosphate (PtdIns3P) 5-kinase Fab1. Fab1p is important for vacuole size regulation, presumably by modulating PtdIns(3,5)P2 effector activity. In the human homolog p235/PIKfyve deletion of this ...
      cd00139
      Location:17722085
      Blast Score: 914
      PIPKc; Phosphatidylinositol phosphate kinases (PIPK) catalyze the phosphorylation of phosphatidylinositol phosphate on the fourth or fifth hydroxyl of the inositol ring, to form phosphatidylinositol bisphosphate. CD alignment includes type II ...
      cd04448
      Location:357438
      Blast Score: 403
      DEP_PIKfyve; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in fungal RhoGEF (GDP/GTP exchange factor) PIKfyve-like proteins. PIKfyve contains N-terminal Fyve finger and DEP domains, a central chaperonin-like domain and a C-terminal PIPK (phosphatidylinositol ...
      pfam01363
      Location:154219
      Blast Score: 233
      FYVE; FYVE zinc finger
    3. NM_152671.3NP_689884.1  1-phosphatidylinositol 3-phosphate 5-kinase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the 5' coding region and all of the 3' coding region and UTR, compared to variant 2. The encoded protein (isoform 3) has a shorter N-terminus and a short novel C-terminus, compared to isoform 2.
      Source sequence(s)
      BC032389
      Consensus CDS
      CCDS33368.1
      UniProtKB/Swiss-Prot
      Q9Y2I7
      Related
      ENSP00000376038, OTTHUMP00000198099, ENST00000392202, OTTHUMT00000319310
      Conserved Domains (1) summary
      cd04448
      Location:260341
      Blast Score: 405
      DEP_PIKfyve; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in fungal RhoGEF (GDP/GTP exchange factor) PIKfyve-like proteins. PIKfyve contains N-terminal Fyve finger and DEP domains, a central chaperonin-like domain and a C-terminal PIPK (phosphatidylinositol ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      209130991..209223475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      200978970..201070591
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001002881.1: Suppressed sequence

      Description
      NM_001002881.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC012362.7 AAY14870.1
    genomic AC016697.8 AAX93222.1
    genomic CH471063.1 EAW70444.1
      EAW70445.1
      EAW70446.1
      EAW70447.1
      EAW70448.1
      EAW70449.1
    mRNA AB023198.1 BAA76825.1
    mRNA AK091482.1 BAC03674.1
    mRNA AK127769.1 BAC87123.1
    mRNA AL122124.1 None
    mRNA AY457063.1 AAR19397.1
    mRNA BC017736.2 None
    mRNA BC032389.1 AAH32389.1
    mRNA BC035705.1 None
    mRNA BC125052.1 AAI25053.1
    mRNA BC125053.1 AAI25054.1
    mRNA BG287802.1 None
    mRNA BX640810.1 None
    other-genetic BC156451.1 AAI56452.1
    other-genetic BC172527.1 AAI72527.1
    other-genetic HQ447333.1 ADQ31819.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZS32 GenPept UniProtKB/TrEMBL:Q6ZS32
    Q9Y2I7.3 GenPept UniProtKB/Swiss-Prot:Q9Y2I7

      Supplemental Content

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...