Aliases for XPNPEP3 Gene
External Ids for XPNPEP3 Gene
Previous GeneCards Identifiers for XPNPEP3 Gene
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]
GeneCards Summary for XPNPEP3 Gene
XPNPEP3 (X-Prolyl Aminopeptidase 3) is a Protein Coding gene. Diseases associated with XPNPEP3 include Nephronophthisis-Like Nephropathy 1 and Late-Onset Nephronophthisis. Gene Ontology (GO) annotations related to this gene include metallopeptidase activity and aminopeptidase activity. An important paralog of this gene is PEPD.
UniProtKB/Swiss-Prot Summary for XPNPEP3 Gene
Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Leu-Pro-Ala (PubMed:25609706, PubMed:28476889). Also shows low activity towards peptides with Ala or Ser at the P1 position (PubMed:28476889).
[Isoform 1]: Promotes TNFRSF1B-mediated phosphorylation of MAPK8/JNK1 and MAPK9/JNK2, suggesting a function as an adapter protein for TNFRSF1B; the effect is independent of XPNPEP3 peptidase activity. May inhibit apoptotic cell death induced via TNF-TNFRSF1B signaling.