Nephronophthisis 1, Juvenile (NPHP1)

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JBTS4; NPH1; SLSN1; Juvenile nephronophthisis 1 protein; Nephrocystin 1

Nephronophthisis 1, Juvenile (NPHP1)
Nephrocystin-1 is protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephronophthisis 1, Juvenile (NPHP1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephronophthisis 1, Juvenile (NPHP1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephronophthisis 1, Juvenile (NPHP1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephronophthisis 1, Juvenile (NPHP1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephronophthisis 1, Juvenile (NPHP1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephronophthisis 1, Juvenile (NPHP1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephronophthisis 1, Juvenile (NPHP1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephronophthisis 1, Juvenile (NPHP1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephronophthisis 1, Juvenile (NPHP1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephronophthisis 1, Juvenile (NPHP1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephronophthisis 1, Juvenile (NPHP1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephronophthisis 1, Juvenile (NPHP1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephronophthisis 1, Juvenile (NPHP1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephronophthisis 1, Juvenile (NPHP1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephronophthisis 1, Juvenile (NPHP1) ELISA Kit Customized Service Offer
  1. "A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis."Hum. Mol. Genet. 6:2317-2323(1997) [PubMed] [Europe PMC] [Abstract]
  2. "A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1."Nat. Genet. 17:149-153(1997) [PubMed] [Europe PMC] [Abstract]
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "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]
  5. "Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus."Am. J. Kidney Dis. 32:1059-1062(1998) [PubMed] [Europe PMC] [Abstract]
  6. "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin."Nat. Genet. 32:300-305(2002) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination." Nat. Genet. 34:413-420(2003) [PubMed] [Europe PMC] [Abstract]
  8. "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]
  9. "Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia."EMBO J. 24:4415-4424(2005) [PubMed] [Europe PMC] [Abstract]
  10. "The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome."Am. J. Hum. Genet. 75:82-91(2004) [PubMed] [Europe PMC] [Abstract]
  11. "Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia."J. Am. Soc. Nephrol. 17:2424-2433(2006) [PubMed] [Europe PMC] [Abstract]
  12. "Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct."Biochem. Biophys. Res. Commun. 371:877-882(2008) [PubMed] [Europe PMC] [Abstract]
  13. "Jouberin localizes to collecting ducts and interacts with nephrocystin-1."Kidney Int. 74:1139-1149(2008) [PubMed] [Europe PMC] [Abstract]
  14. "Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals."PLoS ONE 5:E12719-E12719(2010) [PubMed] [Europe PMC] [Abstract]
  15. "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways." Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract]
  16. "Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia."J. Biol. Chem. 286:14237-14245(2011) [PubMed] [Europe PMC] [Abstract]
  17. "Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics."J. Clin. Invest. 121:2662-2667(2011) [PubMed] [Europe PMC] [Abstract]
  18. "Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis."Proteins 59:347-355(2005) [PubMed] [Europe PMC] [Abstract]
  19. "Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis."J. Pediatr. 136:828-831(2000) [PubMed] [Europe PMC] [Abstract]