NPHP1

Cilia effects upon perturbation of NPHP1

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

Longer cilia

Overexpression effect:

Shorter

Ciliogenesis screen results (5 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
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=374, lfc=-1.84) PMID:30270045

Phenotypes

Mouse phenotype:

decreased exploration in new environment, abnormal skin morphology, enlarged uterus

Human ciliopathy phenotype:

nephronophthisis 1; Joubert syndrome with renal defect; Senior-Loken syndrome 1; Nephronophthisis; nephronophthisis; Senior-Loken syndrome; Joubert syndrome

Ciliopathy associations

• Cone-Rod Dystrophy
• Joubert Syndrome
• Nephronophthisis
• Senior-Løken Syndrome

References: PMID:15138899, PMID:9326933, PMID:23559409, PMID:9856524, PMID:37230223, PMID:27625867, PMID:36913617, PMID:35238134, PMID:23023437, PMID:28667057, PMID:35482924, PMID:11261687, PMID:38989059, PMID:33512896, PMID:40725491

Subcellular localization

basal body

References: PMID:41410385, PMID:22982934

Functional category

• Ciliary assembly/disassembly
• Reproduction & sperm
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

Involved in centrosome and cilia function. Causative gene in the majority of familial cases of nephronophthisis and recently associated with Joubert syndrome (15138899, 22982934).