XPNPEP3

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X-prolyl aminopeptidase (aminopeptidase P) 3, putative
Identifiers
Symbols XPNPEP3 ; APP3; NPHPL1
External IDs OMIM613553 HomoloGene5827 GeneCards: XPNPEP3 Gene
EC number 3.4.11.9
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:
41.25 – 41.37 Mb
n/a
PubMed search [1] 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[edit]

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[edit]

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

References[edit]

  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[edit]