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PIK3R1

Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the PIK3R1 gene.

Function

Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in three transcript variants encoding different isoforms.

Clinical significance

Mutations in PIK3R1 are implicated in cases of breast cancer .

Mutations in PIK3R1 are associated to SHORT syndrome .

Interactions

PIK3R1 has been shown to interact with:

  • ADAM12,
  • BCAR1,
  • CBLB,
  • CD117,
  • CD28,
  • CD7,
  • CENTG1,
  • CBL,
  • EPHA2,
  • EPOR,
  • ERBB3,
  • EZR,
  • FCGR2A,
  • GAB1,
  • GAB2,
  • Grb2,
  • PIK3R2

    Phosphatidylinositol 3-kinase regulatory subunit beta is an enzyme that in humans is encoded by the PIK3R2 gene.

    Interactions

    PIK3R2 has been shown to interact with:

  • CRKL
  • Cbl gene,
  • Epidermal growth factor,
  • FYN,
  • HER2/neu,
  • Macrophage colony-stimulating factor, and
  • PIK3CD.
  • Clinical relevance

    PIK3R2 mutations were recently shown to be associated with polymicrogyria.

    References

    Further reading


    Podcasts:

    PLAYLIST TIME:

    Ball and Chain

    by: B4-4

    I just wanna be your ball and chain
    Wrapped around your finger
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    In one place too long
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    A victim of that fatal touch
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    Wrapped around your finger
    Locked up, tied me down
    Follow you forever
    Never let you get away,
    Holding on like a ball and chain
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    but I know I found the one who's gotts be this love jones
    you know that I get open when you rubbing my back the goose bumps
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    and at the time love devine and what do I find
    I won't be afraid anymore
    The side of you be wanting me just haunting my fight boy be my ball and chain yo it's gotta be right
    I just wanna be your ball and chain
    Wrapped around your finger
    Locked up, tied me down
    Follow you forever
    Never let you get away,




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