XPNPEP3

Cilia effects upon perturbation of XPNPEP3

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.49) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

decreased grip strength

Human ciliopathy phenotype:

nephronophthisis; nephronophthisis-like nephropathy 1

Ciliopathy associations

• Nephronophthisis

References: PMID:20179356

Subcellular localization

lysosomes, mitochondria

Functional category

• Ciliary assembly/disassembly
• Protein processing & maturation

Function

Mitochondrial protein expressed specifically in distal convoluted tubule and cortical collecting duct cells. Homozygous frameshift and splice-site mutations cause an autosomal recessive nephronophisis-like nephropathy in humans (OMIM:613553), 20179356. targeted to mitochondria by an amino- terminal mitochondrial signal sequence. Has N-terminal proline cleavage activity. E.coli ortholog can can efficiently cleave CEP290/NPHP6, ALMS1, and LRRC50 N-terminus. Cleavage of N-terminus of LRRC50 is essential for normal gastrulation in zebrafish ( 20179356)