Nephrocystin 8 (NPHP8)

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RPGRIP1L; CORS3; JBTS7; MKS5, FTM; ;RPGRIP1 Like Protein Fantom Homolog; RPGR-interacting protein 1-like protein

Nephrocystin 8 (NPHP8)
RPGRIP1L protein comprises 1,315 residues and shares 31% identity with RPGRIP1, a protein present at the photoreceptor connecting cilium and mutated in Leber congenital amaurosis type VI. RPGRIP1L contains an N-terminal region with 5 coiled-coil domains, a C-terminal region homologous to the RPGR-interacting domain of RPGRIP1, and a central region with 2 protein kinase C conserved region 2 (C2) motifs. The deduced protein contains 1,055 amino acids. RT-PCR ELISA detected moderate expression in adult brain, weak expression in kidney, ovary, and spinal cord, and no expression in any other adult or fetal tissue examined. Within specific brain regions, moderate expression was detected in caudate nucleus and amygdala, and weak expression was detected in corpus callosum, subthalamic nucleus, and cerebellum.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephrocystin 8 (NPHP8) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephrocystin 8 (NPHP8) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephrocystin 8 (NPHP8) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephrocystin 8 (NPHP8) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephrocystin 8 (NPHP8) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephrocystin 8 (NPHP8) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephrocystin 8 (NPHP8) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephrocystin 8 (NPHP8) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephrocystin 8 (NPHP8) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephrocystin 8 (NPHP8) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephrocystin 8 (NPHP8) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephrocystin 8 (NPHP8) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephrocystin 8 (NPHP8) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephrocystin 8 (NPHP8) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephrocystin 8 (NPHP8) ELISA Kit Customized Service Offer
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  2. "The sequence and analysis of duplication-rich human chromosome 16." Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
  3. "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]
  4. "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
  5. "The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome." Nat. Genet. 39:875-881(2007) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome."Nat. Genet. 39:882-888(2007) [PubMed] [Europe PMC] [Abstract]
  7. "A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity." Science 316:889-894(2007) [PubMed] [Europe PMC] [Abstract]
  8. "A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies." Nat. Genet. 41:739-745(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Thromboxane A2-induced signal transduction is negatively regulated by KIAA1005 that directly interacts with thromboxane A2 receptor."Prostaglandins Other Lipid Mediat. 89:8-15(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways." Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract]
  11. "The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase."Hum. Mol. Genet. 20:3592-3605(2011) [PubMed] [Europe PMC] [Abstract]
  12. "TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum." Nat. Genet. 43:189-196(2011) [PubMed] [Europe PMC] [Abstract]
  13. "Solution structure of the first C2 domain from human KIAA1005 protein."Submitted (OCT-2007) to the PDB data bank
  14. "Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)." J. Med. Genet. 47:8-21(2010) [PubMed] [Europe PMC] [Abstract]
  15. "Molecular characterization of Joubert syndrome in Saudi Arabia."Hum. Mutat. 33:1423-1428(2012) [PubMed] [Europe PMC] [Abstract]