XPNPEP3 Back

X-prolyl aminopeptidase (aminopeptidase P) 3, putative

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NCBI Description of XPNPEP3

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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

XPNPEP3 is highly significantly mutated in
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XPNPEP3 is significantly mutated in
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XPNPEP3 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for XPNPEP3