PKD1

Cilia effects upon perturbation of PKD1

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]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

decreased circulating total protein level, preweaning lethality, complete penetrance, decreased hematocrit, increased neutrophil cell number, herniated abdomil wall, decreased erythrocyte cell number, decreased circulating alkaline phosphatase level

Mouse ciliopathy phenotype:

abnormal spine curvature

Human ciliopathy phenotype:

Autosomal dominant polycystic kidney disease; Polycystic Kidney Disease; kidney disease; stage 5 chronic kidney disease; Renal insufficiency; chronic kidney disease; kidney failure; cystic kidney disease; Genetic renal or urinary tract malformation; Acute kidney injury; renal dialysis; renal hypertension; Meckel syndrome; Genetic visceral malformation of the liver, biliary tract, pancreas or spleen; cystic liver disease

Ciliopathy associations

• Autosomal Dominant Polycystic Kidney Disease
• Autosomal Recessive Polycystic Kidney Disease
• Polycystic Kidney Disease

Subcellular localization

cilia, lysosomes, nucleus

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• ECM & connective tissue

Function

Also known as PC2. Mutation causes autosomal domi nt polycystic kidney disease (PKD). Dimerizes with PKD2 to form a channel in the ciliary membrane (20392267) and mediate transduction of an extracellular mechanical stimulus into a Ca2+ sig ling response involved in the differentiation of kidney tubular epithelial cells (12514735, 26788466). PC1 inhibits calcium release by reducing PC2-IP3R interaction (26788466). Required for the asymmetric localization of Vangl2 and involved in the establishment of the asymmetric positioning of pla r cell polarity proteins (26245976).