HNF1B

Cilia effects upon perturbation of HNF1B

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.18) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Ciliopathy associations

• Autosomal Recessive Polycystic Kidney Disease

References: PMID:35076921, PMID:39408938

Subcellular localization

nucleus

References: PMID:22706971, PMID:15029248

Functional category

• Ciliary assembly/disassembly
• Transcription regulation

Function

HNF1B deficiency is associated with ciliary anomalies in cholangiocytes and causes renal cysts. Regulates bile duct formation ( 22706971). Control of the transcription of several genes expressed in tubular epithelial cells and transcriptional activation of Tg737/Polaris. HNF1β is not directly necessary for ciliogenesis, nevertheless, it may regulate the expression of genes that play a crucial role in cilium function ( 15029248). Electron microscopy revealed a paucity or absence of normal primary cilia in bile duct (cholangiocyte) epithelial cells of patients with heterozygous HNF1B deficiency. (22706971) This suggests that the early defects of cell polarity observed in Hnf1b mutants affect cilia maintenance (29158444) In this Review … ultrastructural analysis of 3 adults with late-onset cholestasis, demonstrating a significant loss of primary cilia in cholangiocytes. (36672242)