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Literature summary 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.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

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

Localization

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

Organism

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.4.11.9 kidney
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.4.11.9 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 ?
-
 ?
3.4.11.9 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 ?
-
 ?
3.4.11.9 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

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

General Information

EC Number General Information Comment Organism
3.4.11.9 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
3.4.11.9 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