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Nephronophthisis 3, Adolescent (NPHP3)

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NPH3; Nephrocystin-3

Nephronophthisis 3, Adolescent (NPHP3)
CCC F680
HGNC 7907
MGI 1921275
PubMed 22085962
RGD 1563856
UniProt Q7Z494
Wiki NPHP3
Nephrocystin-3 is 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 and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length nature has not been determined.
The Nphp3 gene is expressed in embryonic mouse node, kidney tubules, retina, respiratory epithelium, liver, biliary tract, and neural tissues. Expression in retina and liver, as well as in kidney, was in agreement with associated tapetoretinal degeneration or hepatic fibrosis in individuals with the mutation in the human gene NPHP3.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephronophthisis 3, Adolescent (NPHP3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephronophthisis 3, Adolescent (NPHP3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephronophthisis 3, Adolescent (NPHP3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephronophthisis 3, Adolescent (NPHP3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephronophthisis 3, Adolescent (NPHP3) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephronophthisis 3, Adolescent (NPHP3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephronophthisis 3, Adolescent (NPHP3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephronophthisis 3, Adolescent (NPHP3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephronophthisis 3, Adolescent (NPHP3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephronophthisis 3, Adolescent (NPHP3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephronophthisis 3, Adolescent (NPHP3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephronophthisis 3, Adolescent (NPHP3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephronophthisis 3, Adolescent (NPHP3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephronophthisis 3, Adolescent (NPHP3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephronophthisis 3, Adolescent (NPHP3) ELISA Kit Customized Service Offer
  1. "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis."Nat. Genet. 34:455-459(2003) [PubMed] [Europe PMC] [Abstract]
  2. "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method."DNA Res. 9:47-57(2002) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  7. "Nephrocystin-3 is required for ciliary function in zebrafish embryos."Am. J. Physiol. 299:F55-F62(2010) [PubMed] [Europe PMC] [Abstract]
  8. "An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium."Genes Dev. 25:2347-2360(2011) [PubMed] [Europe PMC] [Abstract]
  9. "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling." Cell 150:533-548(2012) [PubMed] [Europe PMC] [Abstract]
  10. "Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression." Hum. Mol. Genet. 22:2177-2185(2013) [PubMed] [Europe PMC] [Abstract]
  11. "ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3." Nat. Genet. 45:951-956(2013) [PubMed] [Europe PMC] [Abstract]
  12. "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia." Am. J. Hum. Genet. 82:959-970(2008) [PubMed] [Europe PMC] [Abstract]