XPNPEP3

X-prolyl aminopeptidase 3, mitochondrial
Identifiers
Symbols	XPNPEP3 ; APP3; ICP55; NPHPL1
External IDs	OMIM: 613553 HomoloGene: 5827 IUPHAR: 1580 GeneCards: XPNPEP3 Gene
EC number	3.4.11.9
Gene ontology Molecular function • aminopeptidase activity • metallopeptidase activity • manganese ion binding Cellular component • mitochondrion • extracellular exosome Biological process • glomerular filtration • protein processing Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	63929	n/a
Ensembl	ENSG00000196236	n/a
UniProt	Q9NQH7	n/a
RefSeq (mRNA)	NM_001204827	n/a
RefSeq (protein)	NP_001191756	n/a
Location (UCSC)	Chr 22: 40.86 – 40.93 Mb	n/a
PubMed search		n/a

Xaa-Pro aminopeptidase 3, also known as aminopeptidase P3, is an enzyme that in humans is encoded by the XPNPEP3 gene.^[1][2]

Function

XPNPEP3 belongs to a family of X-pro-aminopeptidases (EC 3.4.11.9) that utilize a metal cofactor and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position.^[3]

Clinical significance

Mutations in the XPNPEP3 gene are associated with ciliopathy.^[4]

References

1. "Entrez Gene: X-prolyl aminopeptidase (aminopeptidase P) 3".
2. O'Toole JF, Liu Y, Davis EE, et al. (March 2010). "Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy". J. Clin. Invest. 120 (3): 791–802. doi:10.1172/JCI40076. PMC 2827951. PMID 20179356.
3. Erşahin C, Szpaderska AM, Orawski AT, Simmons WH (March 2005). "Aminopeptidase P isozyme expression in human tissues and peripheral blood mononuclear cell fractions". Arch. Biochem. Biophys. 435 (2): 303–10. doi:10.1016/j.abb.2004.12.023. PMID 15708373.
4. Hurd TW, Hildebrandt F (2011). "Mechanisms of nephronophthisis and related ciliopathies". Nephron Exp. Nephrol. 118 (1): e9–e14. doi:10.1159/000320888. PMC 2992643. PMID 21071979.

Further reading

• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Collins JE, Wright CL, Edwards CA, et al. (2004). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
• Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway.". Nat. Cell Biol. 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216.
• Barbe L, Lundberg E, Oksvold P, et al. (2008). "Toward a confocal subcellular atlas of the human proteome.". Mol. Cell Proteomics 7 (3): 499–508. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.