Overview

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Species

      Human
    • Sequence

      MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQ HVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPD EEHCLKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKDKPSVFSGLLG FEDNFSSMNLDKKINSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQP KVTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTFRFFVGTWNVN GQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMA VERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMG KMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFV VPNQTLPQLNIMKHEVVIWLGDLNYRLGMPDANEVKSLINKKDLQRLLKF DQLNIQRTQKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSGKCRVPAWCDR ILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDS VRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFS FIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGE DKIEDILVLHLDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVT KLIDLEKSLLQMVPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQT PGMQEELQQIIDCLDTSIPETIPGSNHSVAEALLIFLEALPEPVICYELY QRCLDSAYDPRICRQVISQLPRCHRNVFRYLMAFLRELLKFSEYNSVNAN MIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEED
    • Amino acids

      1 to 893
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab159021 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml.

     This product was previously labelled as INPP5F

     

  • 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

    • EC 3.1.3.36
    • Inositol polyphosphate 5 phosphatase OCRL 1
    • Inositol polyphosphate 5 phosphatase OCRL1
    • Inositol polyphosphate 5-phosphatase OCRL-1
    • INPP5F
    • LOCR
    • Lowe oculocerebrorenal syndrome protein
    • NPHL2
    • OCRL
    • OCRL 1
    • OCRL_HUMAN
    • OCRL1
    • Oculocerebrorenal syndrome of Lowe
    • Phosphatidylinositol polyphosphate 5 phosphatase
    see all
  • Function

    Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes.
  • Tissue specificity

    Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts.
  • Involvement in disease

    Defects in OCRL are the cause of Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]. It is an X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination.
    Defects in OCRL are the cause of Dent disease type 2 (DD2) [MIM:300555]. DD2 is a renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low-molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones.
  • Sequence similarities

    Belongs to the inositol-1,4,5-trisphosphate 5-phosphatase type II family.
    Contains 1 Rho-GAP domain.
  • Cellular localization

    Endosome. Also found on macropinosomes.
  • Information by UniProt

Images

  • ab159021 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab159021 has not yet been referenced specifically in any publications.

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