Literature summary for 3.4.11.9 extracted from

OToole, J.F.; Liu, Y.; Davis, E.E.; Westlake, C.J.; Attanasio, M.; Otto, E.A.; Seelow, D.; Nurnberg, G.; Becker, C.; Nuutinen, M.; Kaerppae, M.; Ignatius, J.; Uusimaa, J.; Pakanen, S.; Jaakkola, E.; van den Heuvel, L.P.; Fehrenbach, H.; Wiggins, R.; Goyal, M.; Zhou, W.; Wolf, M.T.; Wise, E.; Helou, J.; A, A.l.
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (2010), J. Clin. Invest., 120, 791-802.

Cloned(Commentary)

Cloned (Comment)	Organism
cloned in Escherichia coli	Danio rerio
cloned in Escherichia coli	Homo sapiens

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Danio rerio	5739	-
mitochondrion	-	Homo sapiens	5739	-

Organism	UniProt	Comment	Textmining
Danio rerio	-	-	-
Escherichia coli	-	-	-
Homo sapiens	Q9NQH7	-	-

Source Tissue	Comment	Organism	Textmining
kidney	-	Homo sapiens	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.
centrosomal protein 290 kDa/NPHP6 + H2O	ciliary proteome is screened for proteins with a proline in the second position: 3 candidate substrates centrosomal protein 290 kDa/NPHP6 (CEP290/NPHP6), Alstrom syndrome 1 (ALMS1), and leucine rich repeat containing 50 (LRRC50), known to cause cystic renal disease are shown to be cleaved by ecAPP	Escherichia coli	?	-	?
leucine rich repeat containing 50 + H2O	ciliary proteome is screened for proteins with a proline in the second position: 3 candidate substrates centrosomal protein 290 kDa/NPHP6 (CEP290/NPHP6), Alstrom syndrome 1 (ALMS1), and leucine rich repeat containing 50 (LRRC50), known to cause cystic renal disease are shown to be cleaved by ecAPP	Escherichia coli	?	-	?
additional information	ciliary proteome is screened for proteins with a proline in the second position: 3 candidate substrates centrosomal protein 290 kDa/NPHP6 (CEP290/NPHP6), Alstrom syndrome 1 (ALMS1), and leucine rich repeat containing 50 (LRRC50), known to cause cystic renal disease are shown to be cleaved by ecAPP	Escherichia coli	?	-	?

Synonyms	Comment	Organism
ecAPP	ortholog of human X-prolyl aminopeptidase 3 (xpnpep3)	Escherichia coli
X-prolyl aminopeptidase 3	-	Danio rerio
X-prolyl aminopeptidase 3	-	Homo sapiens
XPNPEP3	-	Danio rerio
XPNPEP3	-	Homo sapiens

General Information	Comment	Organism
malfunction	in 2 families with an nephronophthisis-like phenotype, homozygous frameshift and splice-site mutations, respectively, are detected in the X-prolyl aminopeptidase 3 gene	Homo sapiens
malfunction	suppression of zebrafish xpnpep3 phenocopied the developmental phenotypes of ciliopathy morphants, and this effect is rescued by human XPNPEP3 that is devoid of a mitochondrial localization signal, suggesting that the protein might also have mitochondrial-independent activity	Danio rerio