Recombinant Human Nephrocystin-4 (NPHP4), partial

1. Study provides evidence that KIF13B and NPHP4 are both required for establishment of a specialized caveolin-1 membrane microdomain at the ciliary transition zone, which is essential for Shh-induced accumulation of SMO in the primary cilium as well as for activation of GLI-mediated target gene expression. PMID: 28134340
2. Inherited 3 deleterious mutations in two nephronophthisis genes, NPHP3 and NPHP4 cause unusually severe form of infantile nephronophthisis. PMID: 28392475
3. homozygous NPHP4 truncating mutation that expands the phenotypic spectrum of NPHP4-related nephronophthisis to also include cerebello-oculo-renal syndrome and abnormal spermatogenesis causing male infertility PMID: 23574405
4. The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate beta-catenin signaling. PMID: 22654112
5. NPHP4 mutations are associated with cardiac laterality defects and heterotaxy. PMID: 22550138
6. Identify NPHP4 as a negative regulator of the Hippo pathway and suggest that NPHP4 regulates cell proliferation through its effects on Hippo signaling. PMID: 21555462
7. These results indicate the novel and independent association between single-point SNP rs1287637 in NPHP4 gene and renal function in non-diabetic Japanese population. PMID: 20844548
8. Observational study of gene-disease association. (HuGE Navigator) PMID: 20844548
9. Observational study of gene-disease association. (HuGE Navigator) PMID: 21068128
10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
11. Encodes a novel protein, nephroretinin, that is conserved in evolution--for example, in the nematode Caenorhabditis elegans. PMID: 12205563
12. Interacts with NPHP1 protein, suggesting that these two proteins participate in a common signaling pathway; identification of five different mutations in unrelated individuals with nephronophthisis PMID: 12244321
13. part of multifunctional complex localized in actin- and microtubule-based structures PMID: 15661758
14. two recessive mutations in NPHP4 are a rare cause of nephronophthisis, and single heterozygous NPHP4 sequence variants are three times more prevalent than two recessive mutations PMID: 15776426
15. retinitis pigmentosa GTPase regulator interacting protein 1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina PMID: 16339905
16. In six families with nephronophthisis, there were two mutations in either NPHP1, NPHP3, or NPHP4, suggesting oligogenicity. PMID: 17855640
17. Two novel homozygous missense sequence variants in exons 18 and 21 were detected in a consanguineous family with nephronophthisis PMID: 17954299
18. Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) PMID: 15776426
19. the apparent occurrence of an unusual TG 3' splice site in intron 20 is discussed PMID: 17672918
20. Recessive mutations in the NPHP4 gene, encoding the protein nephroretinin, in humans cause nephronophthisis type 4 and Senior-Loken syndrome.There is evolutionary conservation of the NPHP4 gene, with an ortholog in C. elegans. PMID: 12205563

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HGNC: 19104

OMIM: 606966

KEGG: hsa:261734

STRING: 9606.ENSP00000367398

UniGene: Hs.462348