XBP1

Cilia effects upon perturbation of XBP1

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (4 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.94) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.32) PMID:41160700

Phenotypes

Mouse phenotype:

decreased t cell number, decreased circulating triglyceride level, preweaning lethality, complete penetrance, abnormal behavior, decreased lymphocyte cell number, abnormal urition, decreased large unstained cell number, increased mean corpuscular hemoglobin, increased grip strength, increased mean corpuscular volume, decreased circulating cholesterol level, vertebral fusion, abnormal bone mineralization, abnormal vertebral arch morphology, thrombocytopenia, increased lean body mass, decreased red blood cell distribution width, increased body weight, decreased leukocyte cell number

Mouse ciliopathy phenotype:

cataract, abnormal lens morphology, persistence of hyaloid vascular system

Subcellular localization

cilia associated gene, nucleus

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• T cell biology
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Cardiac & muscle development
• ECM & connective tissue
• Transcription regulation

Function

Modulating ER chaperone function through XBP1 activity improved Pkd in a murine model of PC1, suggesting therapeutic targeting of hypomorphic mutations ( 36270750).

Model organism evidence