Rabbit anti-Human NPHP4 Polyclonal Antibody

Uniprot Id

O75161

Target Species

Human

Target Name

NPHP4

Target Full Name

Nephrocystin-4

Target 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.

Target Involvement

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

Target Subcellular Location

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

Target Protein Families

NPHP4 family

Target Tissue Specificity

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

Target Synonyms

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

Target Background

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.