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Nephrocystin 6 (NPHP6)

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CEP290; 3H11Ag; JBTS5; JBTS6; LCA10; SLSN6; rd16; Joubert Syndrome 5; Centrosomal Protein 290kDa; Cancer/Testis Antigen 87; POC3 Centriolar Protein Homolog

Nephrocystin 6 (NPHP6)
CCC F276
HGNC 29021
MGI 2384917
PubMed 20690115
RGD 1311640
UniProt O15078
Wiki CEP290
Centrosomal protein of 290 kDa is a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A.
The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis, and recently with a frequent form of Leber's Congenital Amaurosis, called LCA10. The presence of antibodies against this protein is associated with several forms of cancer.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephrocystin 6 (NPHP6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephrocystin 6 (NPHP6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephrocystin 6 (NPHP6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephrocystin 6 (NPHP6) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephrocystin 6 (NPHP6) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephrocystin 6 (NPHP6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephrocystin 6 (NPHP6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephrocystin 6 (NPHP6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephrocystin 6 (NPHP6) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephrocystin 6 (NPHP6) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephrocystin 6 (NPHP6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephrocystin 6 (NPHP6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephrocystin 6 (NPHP6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephrocystin 6 (NPHP6) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephrocystin 6 (NPHP6) ELISA Kit Customized Service Offer
  1. "The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4." Nat. Genet. 38:674-681(2006) [PubMed] [Europe PMC] [Abstract]
  2. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
  3. "The finished DNA sequence of human chromosome 12." Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Serological detection of cutaneous T-cell lymphoma-associated antigens."Proc. Natl. Acad. Sci. U.S.A. 98:629-634(2001) [PubMed] [Europe PMC] [Abstract]
  6. "Proteomic characterization of the human centrosome by protein correlation profiling."Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis."Am. J. Hum. Genet. 79:556-561(2006) [PubMed] [Europe PMC] [Abstract]
  8. "CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290." Am. J. Hum. Genet. 83:559-571(2008) [PubMed] [Europe PMC] [Abstract]
  9. "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome."Nat. Genet. 40:443-448(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  11. "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways." Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract]
  12. "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling." Cell 150:533-548(2012) [PubMed] [Europe PMC] [Abstract]
  13. "FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies."Hum. Mol. Genet. 21:5174-5184(2012) [PubMed] [Europe PMC] [Abstract]
  14. "The centriolar satellite protein Cep131 is important for genome stability."J. Cell Sci. 125:4770-4779(2012) [PubMed] [Europe PMC] [Abstract]
  15. "A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis."EMBO J. 32:3029-3040(2013) [PubMed] [Europe PMC] [Abstract]
  16. "CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base."Nat. Cell Biol. 15:591-601(2013) [PubMed] [Europe PMC] [Abstract]
  17. "Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome."Nat. Genet. 38:623-625(2006) [PubMed] [Europe PMC] [Abstract]
  18. "Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome." Am. J. Hum. Genet. 81:170-179(2007) [PubMed] [Europe PMC] [Abstract]
  19. "Ccdc13 is a novel human centriolar satellite protein required for ciliogenesis and genome stability."J. Cell Sci. 127:2910-2919(2014) [PubMed] [Europe PMC] [Abstract]
  20. "CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders." Am. J. Hum. Genet. 81:104-113(2007) [PubMed] [Europe PMC] [Abstract]
  21. "Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome."J. Med. Genet. 44:657-663(2007) [PubMed] [Europe PMC] [Abstract]
  22. "Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes."Hum. Mutat. 31:E1709-E1766(2010) [PubMed] [Europe PMC] [Abstract]
  23. "B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis."Hum. Mol. Genet. 20:2524-2534(2011) [PubMed] [Europe PMC] [Abstract]
  24. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
  25. "Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population."Am. J. Hum. Genet. 90:693-700(2012) [PubMed] [Europe PMC] [Abstract]