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Pikfyve Gene Detail
Summary
  • Symbol
    Pikfyve
  • Name
    phosphoinositide kinase, FYVE finger containing
  • Synonyms
    5230400C17Rik, Pip5k3, PipkIII
  • Feature Type
    protein coding gene
  • IDs
    MGI:1335106
    NCBI Gene: 18711
  • Gene Overview
    MyGene.info: PIKFYVE
Location & Maps
more
  • Sequence Map
    Chr1:65186683-65278695 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      92013 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 32.94 cM, cytoband C3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PIKFYVE, phosphoinositide kinase, FYVE-type zinc finger containing
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PIKFYVE, phosphoinositide kinase, FYVE-type zinc finger containing
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CFD, FAB1, HEL37, PIP5K, PIP5K3, ZFYVE29
  • Links
    NCBI Gene ID: 200576
    neXtProt AC: NX_Q9Y2I7

  • Chr Location
    2q34; chr2:208265753-208358751 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human PIKFYVE associations

Human Disease Mouse Models
       Corneal Dystrophy, Fleck   OMIM: 121850
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    79 phenotypes from 5 alleles in 3 genetic backgrounds
    6 images
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    27
  • Chemically induced (other)
    1
  • Gene trapped
    18
  • Radiation induced
    1
  • Targeted
    7
  • Genomic Mutations
    2 involving Pikfyve
  • Incidental Mutations
Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000047694 VEGA Gene Model | MGI Sequence Detail 92013 C57BL/6J ±  kb
transcript OTTMUST00000122904 VEGA | MGI Sequence Detail 6641 Not Applicable  
polypeptide OTTMUSP00000067278 VEGA | MGI Sequence Detail 2097 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    349 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000012747 1-phosphatidylinositol 3-phosphate 5-kinase
  • EC
  • InterPro Domains
    IPR002423 Chaperonin Cpn60/TCP-1 family
    IPR000591 DEP domain
    IPR000306 FYVE zinc finger
    IPR027409 GroEL-like apical domain
    IPR002498 Phosphatidylinositol-4-phosphate 5-kinase, core
    IPR027483 Phosphatidylinositol-4-phosphate 5-kinase, C-terminal
    IPR027484 Phosphatidylinositol-4-phosphate 5-kinase, N-terminal domain
    IPR027410 TCP-1-like chaperonin intermediate domain
    IPR011991 Winged helix-turn-helix DNA-binding domain
    IPR011011 Zinc finger, FYVE/PHD-type
    IPR017455 Zinc finger, FYVE-related
    IPR013083 Zinc finger, RING/FYVE/PHD-type
Molecular
Reagents
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  • All nucleic 57
    cDNA 56
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGI:1918657
References
more
  • Summaries
    All 56
    Developmental Gene Expression 6
    Gene Ontology 10
    Phenotypes 17
  • Earliest
    J:51612 Shisheva A, et al., Cloning, characterization, and expression of a novel Zn2+-binding FYVE finger-containing phosphoinositide kinase in insulin-sensitive cells. Mol Cell Biol. 1999 Jan;19(1):623-34
  • Latest
    J:232994 Venkatareddy M, et al., Distinct Requirements for Vacuolar Protein Sorting 34 Downstream Effector Phosphatidylinositol 3-Phosphate 5-Kinase in Podocytes Versus Proximal Tubular Cells. J Am Soc Nephrol. 2016 Jan 29;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory