NPHP4
nephrocystin 4
- Ensembl:
- ENSG00000131697
- UniProt:
- O75161
- OMIM:
- 607215
- Synonyms:
- KIAA0673, POC10, SLSN4
Cilia effects upon perturbation of NPHP4
- Loss-of-function effect:
- Shorter cilia
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.36) 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 ciliopathy phenotype:
- male infertility
- Human ciliopathy phenotype:
- nephronophthisis; Senior-Loken syndrome; Nephronophthisis; nephronophthisis 4; Senior-Loken syndrome 4
Ciliopathy associations
- Nephronophthisis
- Senior-Løken Syndrome
Subcellular localization
centrosome, cilia, cytosol
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- T cell biology
- Reproduction & sperm
- Cell migration & adhesion
- Signaling (Hedgehog, GPCRs, ion channels)
- Ciliary membrane
- Transition zone
Function
Involved in familial juvenile nephronophthisis and retinitis pigmentosa. Component of the transition zone barrier that controls the movement of proteins between the flagellar and cytoplasmic compartments. Potentially interacts with MKS/B9 proteins to prevent ciliary membrane proteins from diffusing out of the cilium (25150219). Probably involved in actin and microtubule organisation in cell鈥揷ell and cell鈥搈atrix adhesion sig ling (15661758).
Model organism evidence
Mus musculus (1 reference)
Interestingly, proteins of the photoreceptor primary cilium, such as NPHP4 and other ciliary proteins, including KIF3A, were shown to be localized to photoreceptor synaptic ribbons.
PMIDs: 40649824