# Nephrocystin 1

> mammalian protein found in Homo sapiens

**Wikidata**: [Q21113785](https://www.wikidata.org/wiki/Q21113785)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/NPHP1)  
**Source**: https://4ort.xyz/entity/nephrocystin-1


## References

1. UniProt
2. Q20641742
3. [Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
4. [Jouberin localizes to collecting ducts and interacts with nephrocystin-1](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
5. [Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
6. [The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
7. [Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
8. [Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
9. [The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
10. [An organelle-specific protein landscape identifies novel diseases and molecular mechanisms](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
11. [Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
12. [Identification of preferred protein interactions by phage-display of the human Src homology-3 proteome](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
13. [A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
14. [Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
15. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
16. [Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
17. [Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
18. [A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
19. [A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
20. [Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O15259)
21. Ensembl Release 99
22. Identifiers.org