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 phospha... See more...

Aliases for PIKFYVE Gene

Aliases for PIKFYVE Gene

  • Phosphoinositide Kinase, FYVE-Type Zinc Finger Containing 2 3 5
  • Phosphatidylinositol-3-Phosphate/Phosphatidylinositol 5-Kinase, Type III 2 3
  • Phosphatidylinositol 3-Phosphate 5-Kinase Type III 3 4
  • Phosphoinositide Kinase, FYVE Finger Containing 2 3
  • 1-Phosphatidylinositol 3-Phosphate 5-Kinase 3 4
  • Zinc Finger, FYVE Domain Containing 29 2 3
  • Serine-Protein Kinase PIKFYVE 3 4
  • Type III PIP Kinase 3 4
  • PIPkin-III 3 4
  • KIAA0981 2 4
  • ZFYVE29 2 3
  • PIP5K3 3 4
  • PIP5K 2 3
  • FAB1 2 3
  • FYVE Finger-Containing Phosphoinositide Kinase 4
  • Phosphatidylinositol 3-Phosphate 5-Kinase 4
  • Epididymis Luminal Protein 37 3
  • EC 2.7.1.150 4
  • EC 2.7.11.1 4
  • MGC40423 2
  • PIKFYVE 5
  • PIKfyve 4
  • HEL37 3
  • P235 2
  • 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 Dystrophy, Fleck and Corneal Dystrophy. Among its related pathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Gene Ontology (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 CCT4.

UniProtKB/Swiss-Prot Summary for PIKFYVE Gene

  • Dual specificity kinase implicated in myriad essential cellular processes such as maintenance of endomembrane homeostasis, and endocytic-vacuolar pathway, lysosomal trafficking, nuclear transport, stress- or hormone-induced signaling and cell cycle progression (PubMed:23086417). The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Sole enzyme to catalyze the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo-inositol ring, to form (PtdIns(3,5)P2) (PubMed:17556371). Also catalyzes the phosphorylation of phosphatidylinositol on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 5-phosphate (PtdIns(5)P) (PubMed:22621786). Has serine-protein kinase activity and is able to autophosphorylate and transphosphorylate. Autophosphorylation downregulates lipid product formation (By similarity). Involved in key endosome operations such as fission and fusion in the course of endosomal cargo transport (PubMed:22621786). Required for the maturation of early into late endosomes, phagosomes and lysosomes (PubMed:30612035). Regulates vacuole maturation and nutrient recovery following engulfment of macromolecules, initiates the redistribution of accumulated lysosomal contents back into the endosome network (PubMed:27623384). Critical regulator of the morphology, degradative activity, and protein turnover of the endolysosomal system in macrophages and platelets (By similarity). In neutrophils, critical to perform chemotaxis, generate ROS, and undertake phagosome fusion with lysosomes (PubMed:28779020). Plays a key role in the processing and presentation of antigens by major histocompatibility complex class II (MHC class II) mediated by CTSS (PubMed:30612035). Regulates melanosome biogenesis by controlling the delivery of proteins from the endosomal compartment to the melanosome (PubMed:29584722). Essential for systemic glucose homeostasis, mediates insulin-induced signals for endosome/actin remodeling in the course of GLUT4 translocation/glucose uptake activation (By similarity). Supports microtubule-based endosome-to-trans-Golgi network cargo transport, trhough association with SPAG9 and RABEPK (By similarity). Mediates EGFR trafficking to the nucleus (PubMed:17909029).
  • (Microbial infection) Required for cell entry of coronaviruses SARS-CoV and SARS-CoV-2, as well as human coronavirus EMC (HCoV-EMC) by endocytosis.

Gene Wiki entry for PIKFYVE Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIKFYVE Gene

Genomics for PIKFYVE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIKFYVE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIKFYVE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIKFYVE

Top Transcription factor binding sites by QIAGEN in the PIKFYVE gene promoter:
  • ATF6
  • c-Myb
  • C/EBPalpha
  • CHOP-10
  • Evi-1
  • HOXA3
  • MIF-1
  • Pax-5
  • STAT5B

Genomic Locations for PIKFYVE Gene

Latest Assembly
chr2:208,266,178-208,358,747
(GRCh38/hg38)
Size:
92,570 bases
Orientation:
Plus strand

Previous Assembly
chr2:209,130,979-209,223,470
(GRCh37/hg19 by Entrez Gene)
Size:
92,492 bases
Orientation:
Plus strand

chr2:209,130,991-209,223,475
(GRCh37/hg19 by Ensembl)
Size:
92,485 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 (PubMed:17556371, PubMed:18950639). Interacts (via chaperonin-like domain) with RABEPK; the interaction recruits RABEPK to the endosomal membrane (PubMed:14530284). Interacts with SPAG9 (By similarity). Interacts with EGFR (PubMed:17909029).
    SequenceCaution:
    • Sequence=BAC03674.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PIKFYVE Gene

    Alternative splice isoforms for PIKFYVE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIKFYVE Gene

Post-translational modifications for PIKFYVE Gene

  • Phosphorylated in response to insulin at Ser-318 in a protein kinase B (PKB)-dependent manner (PubMed:20513353). Autophosphorylates which downregulates lipid product formation (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PIKFYVE Gene

Domains & Families for PIKFYVE Gene

Gene Families for PIKFYVE Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PIKFYVE Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol-3-phosphate 5-kinase type III (FYV1_HUMAN)
  • PIP5K3 protein (Q08AR7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2I7

UniProtKB/Swiss-Prot:

FYV1_HUMAN :
  • Interaction of FYVE-type domain with phosphatidylinositol 3-phosphate (PtdIns(3)P) is necessary for targeting to the membranes of the late endocytic pathway.
Domain:
  • Interaction of FYVE-type domain with phosphatidylinositol 3-phosphate (PtdIns(3)P) is necessary for targeting to the membranes of the late endocytic pathway.
genes like me logo Genes that share domains with PIKFYVE: view

Function for PIKFYVE Gene

Molecular function for PIKFYVE Gene

UniProtKB/Swiss-Prot Function:
Dual specificity kinase implicated in myriad essential cellular processes such as maintenance of endomembrane homeostasis, and endocytic-vacuolar pathway, lysosomal trafficking, nuclear transport, stress- or hormone-induced signaling and cell cycle progression (PubMed:23086417). The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Sole enzyme to catalyze the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo-inositol ring, to form (PtdIns(3,5)P2) (PubMed:17556371). Also catalyzes the phosphorylation of phosphatidylinositol on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 5-phosphate (PtdIns(5)P) (PubMed:22621786). Has serine-protein kinase activity and is able to autophosphorylate and transphosphorylate. Autophosphorylation downregulates lipid product formation (By similarity). Involved in key endosome operations such as fission and fusion in the course of endosomal cargo transport (PubMed:22621786). Required for the maturation of early into late endosomes, phagosomes and lysosomes (PubMed:30612035). Regulates vacuole maturation and nutrient recovery following engulfment of macromolecules, initiates the redistribution of accumulated lysosomal contents back into the endosome network (PubMed:27623384). Critical regulator of the morphology, degradative activity, and protein turnover of the endolysosomal system in macrophages and platelets (By similarity). In neutrophils, critical to perform chemotaxis, generate ROS, and undertake phagosome fusion with lysosomes (PubMed:28779020). Plays a key role in the processing and presentation of antigens by major histocompatibility complex class II (MHC class II) mediated by CTSS (PubMed:30612035). Regulates melanosome biogenesis by controlling the delivery of proteins from the endosomal compartment to the melanosome (PubMed:29584722). Essential for systemic glucose homeostasis, mediates insulin-induced signals for endosome/actin remodeling in the course of GLUT4 translocation/glucose uptake activation (By similarity). Supports microtubule-based endosome-to-trans-Golgi network cargo transport, trhough association with SPAG9 and RABEPK (By similarity). Mediates EGFR trafficking to the nucleus (PubMed:17909029).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Required for cell entry of coronaviruses SARS-CoV and SARS-CoV-2, as well as human coronavirus EMC (HCoV-EMC) by endocytosis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:13609, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57923, ChEBI:CHEBI:58088, ChEBI:CHEBI:456216; EC=2.7.1.150; Evidence={ECO:0000305|PubMed:17556371};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + ADP + H(+); Xref=Rhea:RHEA:44680, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57795, ChEBI:CHEBI:57880, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:22621786};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000250|UniProtKB:Q9Z1T6};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by apilimod and YM201636.

Enzyme Numbers (IUBMB) for PIKFYVE Gene

Phenotypes From GWAS Catalog for PIKFYVE Gene

Gene Ontology (GO) - Molecular Function for PIKFYVE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000285 1-phosphatidylinositol-3-phosphate 5-kinase activity IEA,ISS --
GO:0004674 protein serine/threonine kinase activity ISS --
GO:0005515 protein binding IPI 15046600
GO:0005524 ATP 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 Models for research

  • Taconic Biosciences Mouse Models for PIKFYVE

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIKFYVE

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. Peripheral membrane protein. Early endosome membrane. Peripheral membrane protein. Cytoplasmic vesicle, phagosome membrane. Peripheral membrane protein. Late endosome membrane. Peripheral membrane protein. Note=Mainly associated with membranes of the late endocytic pathway. {ECO:0000269 PubMed:11706043}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIKFYVE gene
Compartment Confidence
endosome 5
cytosol 4
golgi apparatus 4
nucleus 3
lysosome 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PIKFYVE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005768 endosome IEA --
GO:0005829 cytosol IEA --
GO:0005911 cell-cell junction IEA --
GO:0010008 endosome membrane IEA,IDA 17556371
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

Pathways by source for PIKFYVE Gene

1 GeneGo (Thomson Reuters) pathway for PIKFYVE Gene
  • Transport Clathrin-coated vesicle cycle
1 GeneTex pathway for PIKFYVE Gene

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:0006612 protein targeting to membrane ISS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006898 NOT receptor-mediated endocytosis IMP 14551253
GO:0016310 phosphorylation IEA --
GO:0019065 receptor-mediated endocytosis of virus by host cell IDA 32221306
genes like me logo Genes that share ontologies with PIKFYVE: view

Drugs & Compounds for PIKFYVE Gene

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

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0

(1) ApexBio Compounds for PIKFYVE Gene

Compound Action Cas Number
YM201636 PIKfyve inhibitor,potent and selective 371942-69-7
genes like me logo Genes that share compounds with PIKFYVE: view

Drug products for research

Transcripts for PIKFYVE Gene

mRNA/cDNA for PIKFYVE Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIKFYVE

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

Expression for PIKFYVE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PIKFYVE Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIKFYVE

SOURCE GeneReport for Unigene cluster for PIKFYVE Gene:

Hs.744997

Evidence on tissue expression from TISSUES for PIKFYVE Gene

  • Nervous system(4.6)
  • Kidney(2.4)
  • Spleen(2.3)
  • Skin(2.2)
  • Blood(2.1)
  • Muscle(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIKFYVE Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • eye
  • head
genes like me logo Genes that share expression patterns with PIKFYVE: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 29 30
  • 99.76 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 94 (a)
OneToMany
-- 30
  • 91 (a)
OneToMany
-- 30
  • 87 (a)
OneToMany
-- 30
  • 84 (a)
OneToMany
-- 30
  • 83 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia PIKFYVE 29 30
  • 91.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PIKFYVE 29 30
  • 91.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pikfyve 29
  • 89.64 (n)
Oppossum
(Monodelphis domestica)
Mammalia PIKFYVE 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Pikfyve 29 16 30
  • 85.94 (n)
OneToOne
Chicken
(Gallus gallus)
Aves PIKFYVE 29 30
  • 77.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PIKFYVE 30
  • 83 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii pikfyve 29 30
  • 67.92 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta fab1 29 30
  • 49.13 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005216 29
  • 47.18 (n)
Worm
(Caenorhabditis elegans)
Secernentea ppk-3 30
  • 36 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAB1 30 32
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2672 30
  • 35 (a)
OneToOne
Species where no ortholog for PIKFYVE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PIKFYVE: view image
Alliance of Genome Resources:
Additional Orthologs for PIKFYVE

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIKFYVE Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1029342 Pathogenic: Fleck corneal dystrophy 208,288,811(+) C/T
NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter)
NONSENSE
841625 Likely Pathogenic: not provided 208,273,734(+) G/A
NM_015040.4(PIKFYVE):c.322+1G>A
SPLICE_DONOR
852268 Likely Pathogenic: not provided 208,353,896(+) A/T
NM_015040.4(PIKFYVE):c.5845-2A>T
SPLICE_ACCEPTOR
895356 Uncertain Significance: Fleck corneal dystrophy 208,266,272(+) A/T
NM_015040.4(PIKFYVE):c.-153A>T
FIVE_PRIME_UTR
895357 Benign: Fleck corneal dystrophy 208,266,291(+) C/T
NM_015040.4(PIKFYVE):c.-134C>T
FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIKFYVE Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv3137 CNV insertion 18451855
nsv437315 CNV loss 16327808
nsv460055 CNV loss 19166990
nsv478606 CNV novel sequence insertion 20440878
nsv584297 CNV gain 21841781
nsv584302 CNV loss 21841781
nsv819526 CNV loss 19587683
nsv834517 CNV loss 17160897

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)

Additional Variant Information for PIKFYVE Gene

Human Gene Mutation Database (HGMD)
PIKFYVE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIKFYVE
Leiden Open Variation Database (LOVD)
PIKFYVE

SNP Genotyping and Copy Number Assays for research

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

Disorders for PIKFYVE Gene

MalaCards: The human disease database

(22) MalaCards diseases for PIKFYVE Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for PIKFYVE

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PIKFYVE: view

No data available for Genatlas for PIKFYVE Gene

Publications for PIKFYVE Gene

  1. ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality. (PMID: 18950639) Sbrissa D … Shisheva A (Journal of molecular biology 2008) 3 4 22
  2. 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. (PMID: 17556371) Sbrissa D … Shisheva A (The Journal of biological chemistry 2007) 3 4 22
  3. The phosphoinositide kinase PIKfyve mediates epidermal growth factor receptor trafficking to the nucleus. (PMID: 17909029) Kim J … Freeman MR (Cancer research 2007) 3 4 22
  4. Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy. (PMID: 15902656) Li S … Schorderet DF (American journal of human genetics 2005) 3 4 72
  5. Phosphatidylinositol 3-phosphate-interacting domains in PIKfyve. Binding specificity and role in PIKfyve. Endomenbrane localization. (PMID: 11706043) Sbrissa D … Shisheva A (The Journal of biological chemistry 2002) 3 4 22

Products for PIKFYVE Gene

Sources for PIKFYVE Gene