Overview

  • Product name
  • Description
    Mouse polyclonal to INPP5E
  • Tested applications
    Suitable for: WBmore details
  • Species reactivity
    Reacts with: Human
  • Immunogen

    Full length protein, (Human) INPP5E (NP_063945.2, 644 a.a).

  • Positive control
    • INPP5E transfected 293T cell lysate.

Properties

Applications

Our Abpromise guarantee covers the use of ab69696 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

Application Abreviews Notes
WB 1/500 - 1/1000. Detects a band of approximately 70 kDa (predicted molecular weight: 70 kDa).

Target

  • Function
    Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates, inactive towards water soluble inositol phosphates.
  • Tissue specificity
    Detected in brain, heart, pancreas, testis and spleen.
  • Involvement in disease
    Defects in INPP5E are the cause of Joubert syndrome type 1 (JBTS1) [MIM:213300]. A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
    Defects in INPP5E are the cause of mental retardation-truncal obesity-retinal dystrophy-micropenis (MORMS) [MIM:610156]. An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies.
  • Sequence similarities
    Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family.
  • Post-translational
    modifications
    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • Cellular localization
    Cytoplasm > cytoskeleton > cilium axoneme. Golgi apparatus > Golgi stack membrane. Peripheral membrane protein associated with Golgi stacks.
  • Information by UniProt
  • Database links
  • Alternative names
    • 5-bisphosphate 5-phosphatase antibody
    • 72 kDa inositol polyphosphate 5-phosphatase antibody
    • Inositol polyphosphate 5 phosphatase antibody
    • INP5E_HUMAN antibody
    • Inpp5e antibody
    • Phosphatidylinositol (4,5) bisphosphate 5 phosphatase antibody
    • Phosphatidylinositol 4 antibody
    • Phosphatidylinositol polyphosphate 5 phosphatase type IV antibody
    • Phosphatidylinositol polyphosphate 5-phosphatase type IV antibody
    • PPI5PIV antibody
    see all

Images

  • All lanes : Anti-INPP5E antibody (ab69696) at 1/500 dilution

    Lane 1 : INPP5E transfected 293T cell lysate
    Lane 2 : Non-transfected 293T cell lysate

    Lysates/proteins at 25 µg per lane.

    Secondary
    Goat Anti-Mouse IgG (H&L)-HRP Conjugate at 1/2500 dilution

    Predicted band size : 70 kDa
    Observed band size : 70 kDa

References

ab69696 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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