PKHD1

Cilia effects upon perturbation of PKHD1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.46) 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:

autosomal recessive polycystic kidney disease; polycystic kidney disease 4; Polycystic Kidney Disease; Meckel syndrome; Isolated polycystic liver disease; autosomal dominant polycystic liver disease; Renal cyst

Ciliopathy associations

• Caroli Disease
• Renal-hepatic-pancreatic Dysplasia
• Autosomal Recessive Polycystic Kidney Disease
• Infantile Polycystic Kidney Disease

Subcellular localization

basal body, centrosome

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Transcription regulation

Function

Also known as FPC. Functio l and/or structural component of primary cilia in kidney tubular cells (14978161). Mutations are involved in utosomal recessive polycystic kidney disease (15458427, 11898128, 14983006). PKHD1 may associate with a common pathway that alters ciliary function and cation channel activity and may act as an intraflagellar motor-binding protein. It also interacts with polycystins, which suggest it could be directly or indirectly involved in a common cystogenic pathway (14983006).