Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      QQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADE SAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEYASFLPFFFLF
    • Amino acids
      22 to 121
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab159012 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
    • JBTS4
    • Juvenile nephronophthisis 1 protein
    • Nephrocystin 1
    • Nephrocystin-1
    • Nephronophthisis
    • nephronophthisis 1 (juvenile)
    • NPH1
    • NPHP1
    • NPHP1_HUMAN
    • SLSN1
    see all
  • Function
    Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis.
  • Tissue specificity
    Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas. Expressed in nasal epithelial cells (at protein level).
  • Involvement in disease
    Nephronophthisis 1
    Senior-Loken syndrome 1
    Joubert syndrome 4
  • Sequence similarities
    Belongs to the nephrocystin-1 family.
    Contains 1 SH3 domain.
  • Developmental stage
    During in vitro ciliogenesis translocalizes from the cytoplasm to the ciliary transition zone during epithelial cell polarization.
  • Domain
    The SH3 domain mediates the stable interaction with Cas.
  • Post-translational
    modifications
    Phosphorylation by CK2 is required for the interaction with PACS1 and the targeting to the base region of cilia.
  • Cellular localization
    Cell junction, adherens junction. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme. Cell junction, tight junction. Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (By similarity). Localized to respiratory cilia axoneme. Localized to the transition zone of respiratory cilia, photoreceptor-connecting cilia and renal monocilia. In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions.
  • Information by UniProt

Images

  • ab159012 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab159012 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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