Gene Symbol: XPNPEP3
Description: X-prolyl aminopeptidase 3
Alias: APP3, ICP55, NPHPL1, Intermediate Cleaving Peptidase 55, X-Pro aminopeptidase 3, X-prolyl aminopeptidase 3, mitochondrial
O Toole J, Liu Y, Davis E, Westlake C, Attanasio M, Otto E, et al
. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest. 2010;120:791-802 pubmed publisher
..we detected homozygous frameshift and splice-site mutations, respectively, in the X-prolyl aminopeptidase 3 (XPNPEP3) gene. In contrast to all known NPHP proteins, XPNPEP3 localizes to mitochondria of renal cells...
Ersahin C, Szpaderska A, Orawski A, Simmons W. Aminopeptidase P isozyme expression in human tissues and peripheral blood mononuclear cell fractions. Arch Biochem Biophys. 2005;435:303-10 pubmed
..The third isoform, APP3, is a hypothetical protein identified by nucleotide sequencing...
Stames E, O Toole J. Mitochondrial aminopeptidase deletion increases chronological lifespan and oxidative stress resistance while decreasing respiratory metabolism in S. cerevisiae. PLoS ONE. 2013;8:e77234 pubmed publisher
Recessive mutations in XPNPEP3, encoding a mitochondrial x-prolyl aminopeptidase, have been identified in families with a rare hereditary tubulointerstitial kidney disease...
Inoue M, Kamada H, Abe Y, Higashisaka K, Nagano K, Mukai Y, et al
. Aminopeptidase P3, a new member of the TNF-TNFR2 signaling complex, induces phosphorylation of JNK1 and JNK2. J Cell Sci. 2015;128:656-69 pubmed publisher
..search for adaptor molecules in the TNFR2 signaling complex and identified aminopeptidase P3 (APP3, also known as XPNPEP3) to be a key molecule...
Scialpi F, Mellis D, Ditzel M. EDD, a ubiquitin-protein ligase of the N-end rule pathway, associates with spindle assembly checkpoint components and regulates the mitotic response to nocodazole. J Biol Chem. 2015;290:12585-94 pubmed publisher
..Taken together, these observations highlight the potential role of EDD in regulating mitotic progression and the cellular response to perturbed mitosis. ..
Singh R, Jamdar S, Goyal V, Kumar A, Ghosh B, Makde R. Structure of the human aminopeptidase XPNPEP3 and comparison of its in vitro activity with Icp55 orthologs: Insights into diverse cellular processes. J Biol Chem. 2017;292:10035-10047 pubmed publisher
The human aminopeptidase XPNPEP3 is associated with cystic kidney disease and TNF-TNFR2 cellular signaling. Its yeast and plant homolog Icp55 processes several imported mitochondrial matrix proteins leading to their stabilization...
Otto E, Ramaswami G, Janssen S, Chaki M, Allen S, Zhou W, et al
. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet. 2011;48:105-16 pubmed publisher
..NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, TMEM67, INPP5E, TMEM216, AHI1, ARL13B, CC2D2A, TTC21B, MKS1, and XPNPEP3)...