Description: Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. RefSeq Summary (NM_022098): 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]. Transcript (Including UTRs) Position: hg19 chr22:41,253,085-41,328,823 Size: 75,739 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr22:41,253,186-41,322,439 Size: 69,254 Coding Exon Count: 10
ID:XPP3_HUMAN DESCRIPTION: RecName: Full=Probable Xaa-Pro aminopeptidase 3; Short=X-Pro aminopeptidase 3; EC=3.4.11.9; AltName: Full=Aminopeptidase P3; Short=APP3; CATALYTIC ACTIVITY: Release of any N-terminal amino acid, including proline, that is linked to proline, even from a dipeptide or tripeptide. COFACTOR: Binds 2 manganese ions per subunit (By similarity). SUBCELLULAR LOCATION: Mitochondrion. TISSUE SPECIFICITY: Isoform 1 and isoform 2 are widely expressed, with isoform 1 being more abundant. DISEASE: Defects in XPNPEP3 are the cause of nephronophthisis-like nephropathy type 1 (NPHPL1) [MIM:613159]. A disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. In NPHPL1 patients, extrarenal symptoms include hypertension, essential tremor, sensorineural hearing loss and gout. Severely affected individuals can manifest a mitochondrial disorder with isolated complex I deficiency activity in muscle, seizures, mental retardation and hypertrophic dilated cardiomyopathy. SIMILARITY: Belongs to the peptidase M24B family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NQH7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
