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Pikfyve Gene Detail
Summary
  • Symbol
    Pikfyve
  • Name
    phosphoinositide kinase, FYVE type zinc finger containing
  • Synonyms
    5230400C17Rik, Pip5k3, PipkIII
  • Feature Type
    protein coding gene
  • IDs
    MGI:1335106
    NCBI Gene: 18711
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:65225842-65317854 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 32.94 cM, cytoband C3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    349 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1335106
 protein coding gene Chr1:65225796-65317855 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016109
 protein coding gene Chr1:65387212-65484448 (+)
A/J MGP_AJ_G0016092
 protein coding gene Chr1:63080121-63172080 (+)
AKR/J MGP_AKRJ_G0016049
 protein coding gene Chr1:64844107-64940176 (+)
BALB/cJ MGP_BALBcJ_G0016047
 protein coding gene Chr1:63178263-63272099 (+)
C3H/HeJ MGP_C3HHeJ_G0015878
 protein coding gene Chr1:65121108-65215206 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016500
 protein coding gene Chr1:67910533-68023216 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014221
 protein coding gene Chr1:59126467-59218382 (+)
CAST/EiJ MGP_CASTEiJ_G0015462
 protein coding gene Chr1:64390173-64488927 (+)
CBA/J MGP_CBAJ_G0015851
 protein coding gene Chr1:70105855-70205953 (+)
DBA/2J MGP_DBA2J_G0015952
 protein coding gene Chr1:62481125-62578102 (+)
FVB/NJ MGP_FVBNJ_G0015955
 protein coding gene Chr1:61756073-61849773 (+)
LP/J MGP_LPJ_G0016024
 protein coding gene Chr1:66282152-66390958 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0015975
 protein coding gene Chr1:72973845-73088671 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016547
 protein coding gene Chr1:64844999-64937471 (+)
PWK/PhJ MGP_PWKPhJ_G0015248
 protein coding gene Chr1:61879268-61974617 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015028
 protein coding gene Chr1:64319020-64418055 (+)
WSB/EiJ MGP_WSBEiJ_G0015524
 protein coding gene Chr1:64546264-64645572 (+)



Homology
more
  • Human Ortholog
    PIKFYVE, phosphoinositide kinase, FYVE-type zinc finger containing
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PIKFYVE, phosphoinositide kinase, FYVE-type zinc finger containing
  • Synonyms
    CFD, FAB1, HEL37, PIP5K, PIP5K3, ZFYVE29
  • Links
    NCBI Gene ID: 200576
    neXtProt AC: NX_Q9Y2I7
    UniProt: Q9Y2I7

  • Chr Location
    2q34; chr2:208266056-208358746 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pikfyve mouse models; 1 with human PIKFYVE associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    94 phenotypes from 6 alleles in 5 genetic backgrounds
    1 phenotype from multigenic genotypes
    10 images
    27 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.
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
less
  • All GO Annotations
    61
  • GO References
    19
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    868
  • Tissues
    147
  • cDNA Data
    58
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025949 Ensembl Gene Model | MGI Sequence Detail 92013 C57BL/6J ±  kb
    transcript ENSMUST00000097707 Ensembl | MGI Sequence Detail 6641 Not Applicable  
    polypeptide ENSMUSP00000095314 Ensembl | MGI Sequence Detail 2097 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000012747 1-phosphatidylinositol 3-phosphate 5-kinase
      (term hierarchy)
    • EC
      2.7.1.150, 2.7.11.1
    • InterPro Domains
      IPR043548 1-phosphatidylinositol-3phosphate-5-kinase
      IPR044769 1-phosphatidylinositol-3-phosphate 5-kinase, PIPK catalytic domain
      IPR002423 Chaperonin Cpn60/GroEL/TCP-1 family
      IPR000591 DEP domain
      IPR000306 FYVE zinc finger
      IPR027409 GroEL-like apical domain superfamily
      IPR002498 Phosphatidylinositol-4-phosphate 4/5-kinase, core
      IPR027483 Phosphatidylinositol-4-phosphate 4/5-kinase, C-terminal domain superfamily
      IPR027484 Phosphatidylinositol-4-phosphate 5-kinase, N-terminal
      IPR037378 PIKfyve, DEP domain
      IPR027410 TCP-1-like chaperonin intermediate domain superfamily
      IPR036390 Winged helix DNA-binding domain superfamily
      IPR036388 Winged helix-like DNA-binding domain superfamily
      IPR011011 Zinc finger, FYVE/PHD-type
      IPR017455 Zinc finger, FYVE-related
      IPR013083 Zinc finger, RING/FYVE/PHD-type
    Molecular
    Reagents
    less
    • All nucleic 59
      cDNA 58
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1918657
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 19
      Phenotypes 27
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:338195 Zhang X, et al., Reprogramming tumour-associated macrophages to outcompete cancer cells. Nature. 2023 Jul;619(7970):616-623
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory