JAG1
jagged canonical Notch ligand 1
Tier: Cilia-Associated Genes
- Ensembl:
- ENSG00000101384
- UniProt:
- P78504
- OMIM:
- 601920
- Synonyms:
- AGS, AHD, AWS, CD339, HJ1, JAGL1
Cilia effects upon perturbation of JAG1
- Cilia number / % ciliated:
- Decreased cilia number
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.18) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Human ciliopathy phenotype:
- deafness, congenital heart defects, and posterior embryotoxon
Subcellular localization
No ciliary localization reported (cilia-associated gene).
References: PMID:23646120, PMID:35819850
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
- Cell migration & adhesion
- Signaling (Hedgehog, GPCRs, ion channels)
- Cardiac & muscle development
- Transcription regulation
Function
In the lung, Apc deletion induced β-catenin accumulation and Jag1 expression in ciliated cells and by lateral induction, triggered Notch signaling in adjacent Clara cells. In the bronchiolar epithelium, absence of Apc blocked the differentiation of a subpopulation of cells committed to the ciliogenesis program. In the human pulmonary adenocarcinoma cells, Apc over-expression inhibited Jag1 expression and promoted motile ciliogenic gene expression program including Foxj1, revealing the potential mechanism( 23646120). JAG1 over-expression in basal cells increased secretory cell differentiation, with no effect on ciliated cell differentiation. (27216293) However, neutralization of JAG1 or JAG2 also decreased ciliated cell frequency (Figure 2D). (35819850)