Recombinant Human Nephrocystin-3 (NPHP3), Truncated

Uniprot Id

Q7Z494

Target Species

Human

Target Name

NPHP3

Target Full Name

Nephrocystin-3

Target Function

Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.

Target Involvement

Nephronophthisis 3 (NPHP3); Renal-hepatic-pancreatic dysplasia 1 (RHPD1); Meckel syndrome 7 (MKS7)

Target Subcellular Location

Cell projection, cilium. Note=Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.

Target Tissue Specificity

Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.

Target Synonyms

Meckel syndrome, type 7; MKS7; Nephrocystin-3; nephronophthisis 3 (adolescent); NPH3; Nphp3; NPHP3_HUMAN; pcy; RHPD

Target Background

This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene.