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Mouse Anti-NPHP4 Recombinant Antibody (4D4) (CBMAB-N3125-WJ)

This product is a Mouse antibody that recognizes NPHP4. The antibody 4D4 can be used for immunoassay techniques such as: ELISA.
See all NPHP4 antibodies
Published Data
Fig. 1 Bovine retinal lysate was subjected to IP using RPGR antibody or control IgG followed by immunoblotting using anti-NPHP4 antibody.
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Summary

Host Animal
Mouse
Specificity
Human
Clone
4D4
Antibody Isotype
IgM, κ
Application
ELISA

Basic Information

Specificity
Human
Antibody Isotype
IgM, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Nephrocystin 4
Introduction
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Entrez Gene ID
261734
UniProt ID
O75161
Alternative Names
Nephrocystin 4; Nephroretinin; POC10 Centriolar Protein Homolog (Chlamydomonas); POC10 Centriolar Protein Homolog; Nephronophthisis 4; Nephrocystin-4; KIAA0673; POC10; SLSN4;
Function
Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611).
Does not seem to be strictly required for ciliogenesis (PubMed:21565611).
Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity).
In cooperation with INVS may down-regulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling (PubMed:21498478, PubMed:22654112).
Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ (PubMed:21555462).
Biological Process
Actin cytoskeleton organization1 PublicationNAS:UniProtKB
Cell-cell adhesion1 PublicationNAS:UniProtKB
Flagellated sperm motilityIEA:Ensembl
Negative regulation of canonical Wnt signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Photoreceptor cell maintenanceIEA:Ensembl
Photoreceptor cell outer segment organizationIEA:Ensembl
Positive regulation of bicellular tight junction assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Protein localization to ciliary transition zoneManual Assertion Based On ExperimentIBA:GO_Central
Retina development in camera-type eyeIEA:Ensembl
Signal transduction1 PublicationNAS:UniProtKB
Visual behavior1 PublicationNAS:UniProtKB
Cellular Location
Cytoplasm, cytoskeleton, cilium basal body
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
Cell junction, tight junction
Nucleus
In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions (By similarity).
Localizes to the ciliary transition zone (By similarity).
In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity).
Involvement in disease
Nephronophthisis 4 (NPHP4):
An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
Senior-Loken syndrome 4 (SLSN4):
A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.

Jung, E. S., Ellinghaus, D., Degenhardt, F., Meguro, A., Khor, S. S., Mucha, S., ... & Cheon, J. H. (2023). Genome-wide association analysis reveals the associations of NPHP4, TYW1-AUTS2 and SEMA6D for Behçet's disease and HLA-B* 46: 01 for its intestinal involvement. Digestive and Liver Disease.

Wang, J., Li, S., Jiang, Y., Wang, Y., Ouyang, J., Yi, Z., ... & Zhang, Q. (2023). Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4. American Journal of Ophthalmology, 252, 188-204.

Ali, A., Unar, A., Muhammad, Z., Dil, S., Zhang, B., Sadaf, H., ... & Shi, Q. (2023). A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella. Journal of Assisted Reproduction and Genetics, 1-12.

Bentley-Ford, M. R., LaBonty, M., Thomas, H. R., Haycraft, C. J., Scott, M., LaFayette, C., ... & Yoder, B. K. (2022). Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes. Genetics, 220(1), iyab209.

Zong, X., Kang, Z., Huang, D., Zhang, X., Gao, Y., Wang, H., ... & Yan, J. (2022). One novel ACOT7–NPHP4 fusion gene identified in one patient with acute lymphoblastic leukemia: a case report. BMC Medical Genomics, 15(1), 1-6.

Hudson, R., Patel, C., Hawley, C. M., O’Shea, S., Snelling, P., Ho, G., ... & Mallett, A. (2020). Adult-diagnosed nonsyndromic nephronophthisis in Australian families caused by biallelic NPHP4 variants. American Journal of Kidney Diseases, 76(2), 282-287.

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For research use only. Not intended for any clinical use.

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