XPNPEP3

GENE INFORMATION

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Gene name

XPNPEP3 (HGNC Symbol)

Synonyms

APP3, NPHPL1

Description

X-prolyl aminopeptidase (aminopeptidase P) 3, putative (HGNC Symbol)

Entrez gene summary

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]

Chromosome

22

Cytoband

q13.2

Chromosome location (bp)

40857077 - 40932815

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000196236 (version 78.38)

Entrez gene

63929

UniProt

Q9NQH7 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NQH7

Antibodypedia

XPNPEP3 antibodies
 

PROTEIN VIEW

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XPNPEP3-001
 
XPNPEP3-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

XPNPEP3-001 ENSP00000349658
ENST00000357137
Q9NQH7
Show all »
Show » Show » 507 57 No 0
XPNPEP3-201 ENSP00000483752
ENST00000614001
Show » 55 6.2 No 0