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Aliases for PIKFYVE Gene

Aliases for PIKFYVE Gene

  • Phosphoinositide Kinase, FYVE-Type Zinc Finger Containing 2 3
  • Phosphoinositide Kinase, FYVE Finger Containing 2 3 5
  • Phosphatidylinositol-3-Phosphate/Phosphatidylinositol 5-Kinase, Type III 2 3
  • Phosphatidylinositol 3-Phosphate 5-Kinase Type III 3 4
  • Type III PIP Kinase 3 4
  • PIPkin-III 3 4
  • PIP5K3 3 4
  • FYVE Finger-Containing Phosphoinositide Kinase 4
  • 1-Phosphatidylinositol-3-Phosphate 5-Kinase 3
  • Phosphatidylinositol 3-Phosphate 5-Kinase 4
  • Zinc Finger, FYVE Domain Containing 29 3
  • Epididymis Luminal Protein 37 3
  • FYVE Domain Containing 29 2
  • EC 2.7.1.150 4
  • Zinc Finger 2
  • KIAA0981 4
  • ZFYVE29 3
  • PIKfyve 4
  • HEL37 3
  • PIP5K 3
  • FAB1 3
  • CFD 3

External Ids for PIKFYVE Gene

Previous HGNC Symbols for PIKFYVE Gene

  • PIP5K3

Previous GeneCards Identifiers for PIKFYVE Gene

  • GC02P208840
  • GC02P209130
  • GC02P200979

Summaries for PIKFYVE Gene

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-Type Zinc Finger Containing) is a Protein Coding gene. Diseases associated with PIKFYVE include corneal fleck dystrophy and acid-labile subunit, deficiency of. Among its related pathways are Platelet activation, signaling and aggregation and Complement and coagulation cascades. GO annotations related to this gene include phosphatidylinositol phosphate kinase activity and phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity. An important paralog of this gene is ZFYVE16.

UniProtKB/Swiss-Prot for PIKFYVE Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIKFYVE Gene

Genomics for PIKFYVE Gene

Regulatory Elements for PIKFYVE Gene

Promoters for PIKFYVE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIKFYVE on UCSC Golden Path with GeneCards custom track

Genomic Location for PIKFYVE Gene

Chromosome:
2
Start:
208,265,753 bp from pter
End:
208,358,751 bp from pter
Size:
92,999 bases
Orientation:
Plus strand

Genomic View for PIKFYVE Gene

Genes around PIKFYVE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIKFYVE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIKFYVE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIKFYVE Gene

Proteins for PIKFYVE Gene

  • Protein details for PIKFYVE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2I7-FYV1_HUMAN
    Recommended name:
    1-phosphatidylinositol 3-phosphate 5-kinase
    Protein Accession:
    Q9Y2I7
    Secondary Accessions:
    • Q08AR7
    • Q08AR8
    • Q53ST3
    • Q53T36
    • Q8N5H0
    • Q8NB67

    Protein attributes for PIKFYVE Gene

    Size:
    2098 amino acids
    Molecular mass:
    237136 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAC03674.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PIKFYVE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIKFYVE Gene

Proteomics data for PIKFYVE Gene at MOPED

Post-translational modifications for PIKFYVE Gene

  • Phosphorylated in response to insulin at Ser-318 in a protein kinase B (PKB)-dependent manner.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for PIKFYVE Gene

Domains & Families for PIKFYVE Gene

Gene Families for PIKFYVE Gene

Suggested Antigen Peptide Sequences for PIKFYVE Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2I7

UniProtKB/Swiss-Prot:

FYV1_HUMAN :
  • Contains 1 DEP domain.
  • Contains 1 FYVE-type zinc finger.
Domain:
  • Contains 1 DEP domain.
  • Contains 1 PIPK domain.
Similarity:
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with PIKFYVE: view

Function for PIKFYVE Gene

Molecular function for PIKFYVE Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol 3-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PIKFYVE Gene

Gene Ontology (GO) - Molecular Function for PIKFYVE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with PIKFYVE: view
genes like me logo Genes that share phenotypes with PIKFYVE: view

Human Phenotype Ontology for PIKFYVE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIKFYVE Gene

MGI Knock Outs for PIKFYVE:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PIKFYVE Gene

Localization for PIKFYVE Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIKFYVE Gene

Endosome membrane. Note=Mainly associated with membranes of the late endocytic pathway.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIKFYVE Gene COMPARTMENTS Subcellular localization image for PIKFYVE gene
Compartment Confidence
endosome 5
golgi apparatus 5
cytosol 4
nucleus 3
lysosome 2
plasma membrane 2
vacuole 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PIKFYVE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005911 cell-cell junction IEA --
GO:0031901 early endosome membrane TAS --
GO:0031902 late endosome membrane TAS --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with PIKFYVE: view

Pathways & Interactions for PIKFYVE Gene

genes like me logo Genes that share pathways with PIKFYVE: view

SIGNOR curated interactions for PIKFYVE Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PIKFYVE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:1904562 phosphatidylinositol 5-phosphate metabolic process IC 25578879
GO:2000785 regulation of autophagosome assembly IMP 25578879
genes like me logo Genes that share ontologies with PIKFYVE: view

Drugs & Compounds for PIKFYVE Gene

(9) Drugs for PIKFYVE Gene - From: Novoseek, HMDB, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
YM201636 Pharma PIKfyve inhibitor,potent and selective 0

(14) Additional Compounds for PIKFYVE Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with PIKFYVE: view

Transcripts for PIKFYVE Gene

Unigene Clusters for PIKFYVE Gene

Phosphoinositide kinase, FYVE finger containing:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PIKFYVE Gene

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:

Relevant External Links for PIKFYVE Gene

GeneLoc Exon Structure for
PIKFYVE
ECgene alternative splicing isoforms for
PIKFYVE

Expression for PIKFYVE Gene

mRNA expression in normal human tissues for PIKFYVE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIKFYVE Gene

This gene is overexpressed in Breast (15.8), Plasma (11.9), Saliva (9.5), and Blymphocyte (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIKFYVE Gene



SOURCE GeneReport for Unigene cluster for PIKFYVE Gene Hs.744997

genes like me logo Genes that share expression patterns with PIKFYVE: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PIKFYVE Gene

Orthologs for PIKFYVE Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PIKFYVE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIKFYVE 35
  • 99.76 (n)
  • 99.67 (a)
PIKFYVE 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIKFYVE 36
  • 95 (a)
OneToOne
PIKFYVE 35
  • 91.36 (n)
  • 94.76 (a)
dog
(Canis familiaris)
Mammalia PIKFYVE 35
  • 91.99 (n)
  • 95.28 (a)
PIKFYVE 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pikfyve 16
Pikfyve 36
  • 93 (a)
OneToOne
Pikfyve 35
  • 85.94 (n)
  • 87.9 (a)
oppossum
(Monodelphis domestica)
Mammalia PIKFYVE 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pikfyve 35
  • 89.64 (n)
  • 93.42 (a)
chicken
(Gallus gallus)
Aves PIKFYVE 36
  • 86 (a)
OneToOne
PIKFYVE 35
  • 77.8 (n)
  • 87 (a)
lizard
(Anolis carolinensis)
Reptilia PIKFYVE 36
  • 83 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pikfyve 36
  • 71 (a)
OneToOne
pikfyve 35
  • 67.92 (n)
  • 75.04 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005216 35
  • 47.18 (n)
  • 39.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta fab1 35
  • 49.13 (n)
  • 41.36 (a)
fab1 36
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ppk-3 36
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAB1 36
  • 19 (a)
OneToMany
FAB1 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2672 36
  • 35 (a)
OneToOne
Species with no ortholog for PIKFYVE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PIKFYVE Gene

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

Paralogs for PIKFYVE Gene

Paralogs for PIKFYVE Gene

genes like me logo Genes that share paralogs with PIKFYVE: view

Variants for PIKFYVE Gene

Sequence variations from dbSNP and Humsavar for PIKFYVE Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_025309 Corneal dystrophy, fleck (CFD)
rs16840913 - 208,315,215(+) ACATG(A/G)TGGCA nc-transcript-variant, reference, missense
rs999890 - 208,325,908(+) TCACC(A/G/T)CCTCT nc-transcript-variant, reference, missense
rs2289170 - 208,350,909(+) GGCCC(A/G)GGGAG nc-transcript-variant, reference, missense
rs10932258 - 208,320,256(+) GATGA(A/G)TTCTT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PIKFYVE Gene

Variant ID Type Subtype PubMed ID
nsv834517 CNV Loss 17160897
nsv875752 CNV Loss 21882294
nsv819526 CNV Loss 19587683
nsv3137 CNV Insertion 18451855
nsv437315 CNV Loss 16327808
nsv460055 CNV Loss 19166990

Variation tolerance for PIKFYVE Gene

Residual Variation Intolerance Score: 0.693% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.08; 60.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIKFYVE Gene

HapMap Linkage Disequilibrium report
PIKFYVE
Human Gene Mutation Database (HGMD)
PIKFYVE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIKFYVE Gene

Disorders for PIKFYVE Gene

MalaCards: The human disease database

(4) MalaCards diseases for PIKFYVE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
corneal fleck dystrophy
  • fleck corneal dystrophy
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
corneal dystrophy
stromal dystrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FYV1_HUMAN
  • 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:0000269 PubMed:15902656}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIKFYVE

Genetic Association Database (GAD)
PIKFYVE
Human Genome Epidemiology (HuGE) Navigator
PIKFYVE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIKFYVE
genes like me logo Genes that share disorders with PIKFYVE: view

No data available for Genatlas for PIKFYVE Gene

Publications for PIKFYVE Gene

  1. Phosphatidylinositol 3-phosphate-interacting domains in PIKfyve. Binding specificity and role in PIKfyve endomembrane localization. (PMID: 11706043) Sbrissa D. … Shisheva A. (J. Biol. Chem. 2002) 3 4 23 67
  2. Kinesin adapter JLP links PIKfyve to microtubule-based endosome-to-trans-Golgi network traffic of furin. (PMID: 19056739) Ikonomov O.C. … Shisheva A. (J. Biol. Chem. 2009) 3 23
  3. PIKfyve-dependent regulation of the Cl- channel ClC-2. (PMID: 19232516) Klaus F. … Lang F. (Biochem. Biophys. Res. Commun. 2009) 3 23
  4. PIKfyve regulation of endosome-linked pathways. (PMID: 19582903) de Lartigue J. … Clague M.J. (Traffic 2009) 3 23
  5. PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis. (PMID: 19840946) Ikonomov O.C. … Shisheva A. (J. Biol. Chem. 2009) 3 23

Products for PIKFYVE Gene

Sources for PIKFYVE Gene

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