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NPHP1 / Nephronophthisis Antibody
Rabbit Polyclonal Antibody
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application 
| WB, IHC-P, E |
|---|---|
| Primary Accession | O15259 |
| Other Accession | 4867 |
| Reactivity | Human |
| Host | Rabbit |
| Clonality | Polyclonal |
| Isotype | IgG |
| Calculated MW | 83299 Da |
| Dilution | IHC-P (10 µg/ml), |
| Gene ID | 4867 |
|---|---|
| Other Names | NPHP1, JBTS4, Nephrocystin 1, Nephronophthisis, SLSN1, Nephrocystin-1, Nephronophthisis 1 (juvenile), NPH1 |
| Target/Specificity | Human NPHP1 / Nephronophthisis |
| Reconstitution & Storage | PBS, pH 7.4, 0.03% Proclin 300, 50% glycerol. Long term: -20°C; Short term: +4°C. Avoid repeat freeze-thaw cycles. |
| Precautions | NPHP1 / Nephronophthisis Antibody is for research use only and not for use in diagnostic or therapeutic procedures. |
| Name | NPHP1 |
|---|---|
| Synonyms | NPH1 |
| Function | Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). 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 (By similarity). May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development (By similarity). In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity). |
| Cellular Location | Cell junction {ECO:0000250|UniProtKB:Q9QY53}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q9QY53}. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme. Cell junction, tight junction. Note=In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (By similarity). Localized to respiratory cilia axoneme (PubMed:16308564, PubMed:16885411). Localized to the transition zone of respiratory cilia (PubMed:16885411) Localized to the transition zone of photoreceptor-connecting cilia and renal monocilia (By similarity). In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates at basolateral tight junctions (By similarity) {ECO:0000250|UniProtKB:Q9QY53, ECO:0000269|PubMed:16308564, ECO:0000269|PubMed:16885411} |
| Tissue Location | 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) (PubMed:16308564). Expressed in the renal collecting duct (at protein level) (PubMed:18477472). |
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Provided below are standard protocols that you may find useful for product applications.
Background
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 (By similarity).
References
Saunier S.,et al.Hum. Mol. Genet. 6:2317-2323(1997).
Hildebrandt F.,et al.Nat. Genet. 17:149-153(1997).
Hillier L.W.,et al.Nature 434:724-731(2005).
Caridi G.,et al.Am. J. Kidney Dis. 32:1059-1062(1998).
Mollet G.,et al.Nat. Genet. 32:300-305(2002).
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