Recombinant Human INPP5E protein (ab163384)

Overview

  • Product name
    Recombinant Human INPP5E protein
  • Protein length
    Full length protein

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPAL ACSTPATPSGEDPPARAAPIAPRPPARPRLERALSLDDKGWRRRRFRGSQ EDLEARNGTSPSRGSVQSEGPGAPAHSCSPPCLSTSLQEIPKSRGVLSSE RGSPSSGGNPLSGVASSSPNLPHRDAAVAGSSPRLPSLLPPRPPPALSLD IASDSLRTANKVDSDLADYKLRAQPLLVRAHSSLGPGRPRSPLACDDCSL RSAKSSFSLLAPIRSKDVRSRSYLEGSLLASGALLGADELARYFPDRNVA LFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWET RLQETLGPHYVLLSSAAHGVLYMSLFIRRDLIWFCSEVECSTVTTRIVSQ IKTKGALGISFTFFGTSFLFITSHFTSGDGKVAERLLDYTRTVQALVLPR NVPDTNPYRSSAADVTTRFDEVFWFGDFNFRLSGGRTVVDALLCQGLVVD VPALLQHDQLIREMRKGSIFKGFQEPDIHFLPSYKFDIGKDTYDSTSKQR TPSYTDRVLYRSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRD NIPLAAGKFDRELYLLGIKRRISKEIQRQQALQSQNSSTICSVS
    • Amino acids
      1 to 644
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab163384 in the following tested applications.

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

  • Applications

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • 5-bisphosphate 5-phosphatase
    • 72 kDa inositol polyphosphate 5-phosphatase
    • Inositol polyphosphate 5 phosphatase
    • INP5E_HUMAN
    • Inpp5e
    • Phosphatidylinositol (4,5) bisphosphate 5 phosphatase
    • Phosphatidylinositol 4
    • Phosphatidylinositol polyphosphate 5 phosphatase type IV
    • Phosphatidylinositol polyphosphate 5-phosphatase type IV
    • PPI5PIV
    see all
  • 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

Images

  • ab163384 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab163384 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab163384.
Please use the links above to contact us or submit feedback about this product.

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

Sign up