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. [provided by RefSeq, Mar 2011]

Description

X-prolyl aminopeptidase 3

Tissue specificity

Low tissue specificity

Subcell location

Mitochondria, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

22 (40857077 - 40932815)

Ensembl ID

ENSG00000196236  (ver. 103.38)

Orthologs

Mouse Xpnpep3: ENSMUSG00000022401

UniProt

Q9NQH7

neXtProt

NX_Q9NQH7

Human splice variants
Mouse splice variants

Protein structure