XPNPEP3, Official Symbol XPNPEP3provided by HGNC Official Full Name X-prolyl aminopeptidase 3provided by HGNC Primary source HGNC:HGNC:28052 See related Ensembl:ENSG00000196236 MIM:613553; AllianceGenome:HGNC:28052 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APP3; ICP55; NPHPL1 Summary The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 2011] Expression Broad expression in testis (RPKM 4.3), kidney (RPKM 2.0) and 25 other tissues See more Orthologs mouse all