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Protein Coding Gene : Pikfyve phosphoinositide kinase, FYVE type zinc finger containing

Primary Identifier  MGI:1335106 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  18711
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables phosphatidylinositol kinase activity; protein serine/threonine kinase activity; and zinc ion binding activity. Involved in several processes, including neutrophil chemotaxis; phosphatidylinositol metabolic process; and vesicle organization. Acts upstream of or within myelin assembly. Located in several cellular components, including cell-cell junction; perinuclear region of cytoplasm; and vesicle membrane. Is expressed in several structures, including brain; genitourinary system; integumental system; limb; and skeleton. Used to study Crohn's disease. Human ortholog(s) of this gene implicated in Fleck corneal dystrophy. Orthologous to human PIKFYVE (phosphoinositide kinase, FYVE-type zinc finger containing).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • PipkIII,
  • 5230400C17Rik,
  • phosphoinositide kinase, FYVE type zinc finger containing,
  • Pip5k3,
  • MGI:1918657,
  • phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III,
  • Pikfyve,
  • phosphoinositide kinase, fyve-containing,
  • RIKEN cDNA 5230400C17 gene

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2 Involved In Mutations

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Proteins

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Mouse features --> Functions (GO terms)

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