Homo sapiens Gene: XPNPEP3
Summary
InnateDB Gene IDBG-8922.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol XPNPEP3
Gene Name X-prolyl aminopeptidase (aminopeptidase P) 3, putative
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000196236
Encoded Proteins
X-prolyl aminopeptidase (aminopeptidase P) 3, putative
X-prolyl aminopeptidase (aminopeptidase P) 3, putative
X-prolyl aminopeptidase (aminopeptidase P) 3, putative
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:40857077-40932815
Strand Forward strand
Band q13.2
Transcripts
ENST00000357137 ENSP00000349658
ENST00000417688
ENST00000428799 ENSP00000394283
ENST00000482652
ENST00000465258
ENST00000614001 ENSP00000483752
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 5 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004177 aminopeptidase activity
GO:0008237 metallopeptidase activity
GO:0030145 manganese ion binding
Biological Process
GO:0003094 glomerular filtration
GO:0006508 proteolysis
GO:0016485 protein processing
Cellular Component
GO:0005739 mitochondrion
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 63929
UniGene
RefSeq NM_001204827 NM_022098
HUGO HGNC:28052
OMIM 613553
CCDS CCDS74869 CCDS14007
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas 63929