Product Details

Uniprot No.

Target Names

NPHP4

Alternative Names

KIAA0673 antibody; Nephrocystin-4 antibody; nephronophthisis 4 antibody; Nephroretinin antibody; NPHP4 antibody; NPHP4_HUMAN antibody; POC10 antibody; POC10 centriolar protein homolog antibody; SLSN4 antibody

Species Reactivity

Human,Mouse,Rat

Immunogen

Human NPHP4

Immunogen Species

Homo sapiens (Human)

Isotype

IgG

Purification Method

Antigen Affinity purified

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.

Tested Applications

ELISA,IF

Protocols

ELISA Protocol
Immunofluorescence (IF) Protocol

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Related Products

Target Background

Function

Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. 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. In cooperation with INVS may downregulate 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. Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ.

Gene References into Functions

Study provides evidence that KIF13B and NPHP4 are both required for establishment of a specialized caveolin-1 membrane microdomain at the ciliary transition zone, which is essential for Shh-induced accumulation of SMO in the primary cilium as well as for activation of GLI-mediated target gene expression. PMID: 28134340
Inherited 3 deleterious mutations in two nephronophthisis genes, NPHP3 and NPHP4 cause unusually severe form of infantile nephronophthisis. PMID: 28392475
homozygous NPHP4 truncating mutation that expands the phenotypic spectrum of NPHP4-related nephronophthisis to also include cerebello-oculo-renal syndrome and abnormal spermatogenesis causing male infertility PMID: 23574405
The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate beta-catenin signaling. PMID: 22654112
NPHP4 mutations are associated with cardiac laterality defects and heterotaxy. PMID: 22550138
Identify NPHP4 as a negative regulator of the Hippo pathway and suggest that NPHP4 regulates cell proliferation through its effects on Hippo signaling. PMID: 21555462
These results indicate the novel and independent association between single-point SNP rs1287637 in NPHP4 gene and renal function in non-diabetic Japanese population. PMID: 20844548
Observational study of gene-disease association. (HuGE Navigator) PMID: 20844548
Observational study of gene-disease association. (HuGE Navigator) PMID: 21068128
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
Encodes a novel protein, nephroretinin, that is conserved in evolution--for example, in the nematode Caenorhabditis elegans. PMID: 12205563
Interacts with NPHP1 protein, suggesting that these two proteins participate in a common signaling pathway; identification of five different mutations in unrelated individuals with nephronophthisis PMID: 12244321
part of multifunctional complex localized in actin- and microtubule-based structures PMID: 15661758
two recessive mutations in NPHP4 are a rare cause of nephronophthisis, and single heterozygous NPHP4 sequence variants are three times more prevalent than two recessive mutations PMID: 15776426
retinitis pigmentosa GTPase regulator interacting protein 1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina PMID: 16339905
In six families with nephronophthisis, there were two mutations in either NPHP1, NPHP3, or NPHP4, suggesting oligogenicity. PMID: 17855640
Two novel homozygous missense sequence variants in exons 18 and 21 were detected in a consanguineous family with nephronophthisis PMID: 17954299
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) PMID: 15776426
the apparent occurrence of an unusual TG 3' splice site in intron 20 is discussed PMID: 17672918
Recessive mutations in the NPHP4 gene, encoding the protein nephroretinin, in humans cause nephronophthisis type 4 and Senior-Loken syndrome.There is evolutionary conservation of the NPHP4 gene, with an ortholog in C. elegans. PMID: 12205563

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Involvement in disease

Nephronophthisis 4 (NPHP4); Senior-Loken syndrome 4 (SLSN4)

Subcellular Location

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, tight junction. Nucleus.

Protein Families

NPHP4 family

Tissue Specificity

Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung.

Database Links

HGNC: 19104

OMIM: 606966

KEGG: hsa:261734

STRING: 9606.ENSP00000367398

UniGene: Hs.462348