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)