# Jouberin

> mouse protein (annotated by UniProtKB/Swiss-Prot Q8K3E5)

**Wikidata**: [Q21983459](https://www.wikidata.org/wiki/Q21983459)  
**Source**: https://4ort.xyz/entity/jouberin


## References

1. UniProt
2. [InterPro Release 71.0](http://www.ebi.ac.uk/interpro/protein/Q8K3E5)
3. [Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)
4. [Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)
5. [A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)
6. [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:Q8K3E5)
7. [Brainstem Hap1-Ahi1 is involved in insulin-mediated feeding control](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)
8. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)
9. [AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)
10. [Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)
11. [Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)
12. [Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)
13. [Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)
14. [Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotype.](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)
15. [AHI-1 interacts with BCR-ABL and modulates BCR-ABL transforming activity and imatinib response of CML stem/progenitor cells](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)
16. [Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5)