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Anti-NPHP1, clone 1M4, Cat. No. MABS2185, is a mouse monoclonal antibody that detects Nephrocystin-1 and has been tested for use in Immunofluorescence and Western Blotting.
More>>Anti-NPHP1, clone 1M4, Cat. No. MABS2185, is a mouse monoclonal antibody that detects Nephrocystin-1 and has been tested for use in Immunofluorescence and Western Blotting. Less<<
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Übersicht
Replacement Information
Description
Catalogue Number
MABS2185-25UL
Description
Anti-NPHP1 Antibody, clone 1M4
Alternate Names
Nephrocystin-1
Juvenile nephronophthisis 1 protein
Background Information
Nephrocystin-1 (UniProt: O15259; also known as Juvenile nephronophthisis 1 protein) is encoded by the NPHP1 (also known as NPH1) gene (Gene ID: 4867) in human. Nephrocystin-1 displays a widespread expression with highest levels found in pituitary gland, spinal cord, thyroid gland, testis, lymph node, trachea and skeletal muscle. Low expression has been reported in heart, kidney, and pancreas. It serves as a cytoplasmic adaptor molecule and contains a putative coiled-coil domain and an SH3 domain (aa 152-212), which mediates its stable interaction with p130Cas (BCAR1). Its SH3 domain also serves as a potential binding partner of polycystin-1. Nephrocystin-1 is shown to localize to cell-cell junctions, cilia, and cell-matrix adhesion sites and together with p130Cas it plays a role in the control of epithelial cell polarity. It is also involved in the organization of apical junctions in kidney cells along with nephrocystin-4 and -8. In the retinal photoreceptor cell layer, nephrocystin-1 is shown to be localized at the connecting cilium. It can undergo phosphorylation at serine 121, 123, and 126 by casein kinase 2 and this phosphorylation is required for the interaction with phosphofurin acidic cluster sorting protein 1 (PACS-1) and the targeting to the base region of cilia. Mutations in NPHP1 gene are known to cause Nephronophthisis 1, a early age disease characterized by anemia, polyuria, polydipsia, and death in uremia due to symmetrical destruction of kidneys involving both tubules and glomeruli. (Ref.: Wodarczyk, C., et al. (2010). PLoS One. 5(9); e12719).
References
Product Information
Format
Purified
Presentation
Purified mouse monoclonal antibody IgG3 in buffer containing 0.1 M Tris-Glycine (pH 7.4), 150 mM NaCl with 0.05% sodium azide.
Applications
Application
Anti-NPHP1, clone 1M4, Cat. No. MABS2185, is a mouse monoclonal antibody that detects Nephrocystin-1 and has been tested for use in Immunofluorescence and Western Blotting.
Key Applications
Western Blotting
Immunofluorescence
Application Notes
Immunofluorescence Analysis: A representative lot of this antibody detected NPHP1 in Immunofluorescence applications (Xu, Q., et. al. (2016). Nat Commun. 7:10777).
Biological Information
Immunogen
A synthetic polypeptide fused by 16 different NPHP1 peptide sequences predicted to have the highest antigenicity. The sequence was converted to cDNA and the polypeptide was expressed and purified from E. coli.
Clone
1M4
Concentration
Please refer to lot specific datasheet.
Host
Mouse
Specificity
Clone 1M4 is a mouse monoclonal antibody that specifically detects human Nephrocystin-1 (NPHP1).
~92 kDa observed; 83.30 kDa calculated. Uncharacterized bands may be observed in some lysate(s).
Physicochemical Information
Dimensions
Materials Information
Toxicological Information
Safety Information according to GHS
Safety Information
Product Usage Statements
Quality Assurance
Evaluated by Western Blotting in human testis tissue lysate.
Western Blotting Analysis: A 1:500 dilution of this antibody detected NPHP1 in human testis tissue lysate.
Usage Statement
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Defective primary cilia are causative to a wide spectrum of human genetic disorders, termed ciliopathies. Although the regulation of ciliogenesis is intensively studied, how it is initiated remains unclear. Here we show that type Iγ phosphatidylinositol 4-phosphate (PtdIns(4)P) 5-kinase (PIPKIγ) and inositol polyphosphate-5-phosphatase E (INPP5E), a Joubert syndrome protein, localize to the centrosome and coordinate the initiation of ciliogenesis. PIPKIγ counteracts INPP5E in regulating tau-tubulin kinase-2 (TTBK2) recruitment to the basal body, which promotes the removal of microtubule capping protein CP110 and the subsequent axoneme elongation. Interestingly, INPP5E and its product--PtdIns(4)P--accumulate at the centrosome/basal body in non-ciliated, but not ciliated, cells. PtdIns(4)P binding to TTBK2 and the distal appendage protein CEP164 compromises the TTBK2-CEP164 interaction and inhibits the recruitment of TTBK2. Our results reveal that PtdIns(4)P homoeostasis, coordinated by PIPKIγ and INPP5E at the centrosome/ciliary base, is vital for ciliogenesis by regulating the CEP164-dependent recruitment of TTBK2.
