XPNPEP3

X-prolyl aminopeptidase 3

Ensembl:
ENSG00000196236
UniProt:
Q9NQH7
OMIM:
613553
Synonyms:
APP3, ICP55, NPHPL1

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

Subcellular localization

cilia associated gene, lysosomes, mitochondria

Functional category

  • Ciliary assembly/disassembly
  • T cell biology
  • 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- termi l mitochondrial sig l sequence. Has N-termi l 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)

Model organism evidence

Mus musculus (1 reference)

Nephronophthisis-like nephropathy-1 (NPHPL1) is a rare ciliopathy, caused by mutations of XPNPEP3.

PMIDs: 37599822

Danio rerio (1 reference)

Ten causative genes (NPHP1-NPHP9 and NPHP11), whose products localize to the primary cilia-centrosome complex, support the unifying concept that cystic kidney diseases are "ciliopathies".

PMIDs: 20179356