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- Table of Contents
Facts about Nephrocystin-3.
Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell moves.
Human | |
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Gene Name: | NPHP3 |
Uniprot: | Q7Z494 |
Entrez: | 27031 |
Belongs to: |
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No superfamily |
FLJ30691; FLJ36696; KIAA2000DKFZp667K242; MKS7DKFZp781K1312; nephrocystin-3; nephronophthisis 3 (adolescent); NPH3MGC78666; RHPD
Mass (kDA):
150.864 kDA
Human | |
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Location: | 3q22.1 |
Sequence: | 3; NC_000003.12 (132680609..132722409, complement) |
Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.
Cell projection, cilium. Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.
PMID: 12872122 by Olbrich H., et al. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
PMID: 12056414 by Ohara O., et al. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method.