Version 5.4
Homo sapiens Protein: XPNPEP3
Summary
InnateDB Protein IDBP-8924.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol XPNPEP3
Protein Name X-prolyl aminopeptidase (aminopeptidase P) 3, putative
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000349658
InnateDB Gene IDBG-8922 (XPNPEP3)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Mitochondrion {ECO:0000269PubMed:20179356}.
Disease Associations Nephronophthisis-like nephropathy 1 (NPHPL1) [MIM:613159]: A disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. In NPHPL1 patients, extrarenal symptoms include hypertension, essential tremor, sensorineural hearing loss and gout. Severely affected individuals can manifest a mitochondrial disorder with isolated complex I deficiency activity in muscle, seizures, mental retardation and hypertrophic dilated cardiomyopathy. {ECO:0000269PubMed:20179356}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Isoform 1 and isoform 2 are widely expressed, with isoform 1 being more abundant. {ECO:0000269PubMed:15708373}.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR000994 Peptidase M24, structural domain
IPR007865 Aminopeptidase P, N-terminal
IPR028980 Creatinase/Aminopeptidase P, N-terminal
PFAM PF00557
PF05195
PRINTS
PIRSF
SMART SM01011
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NQH7
PhosphoSite PhosphoSite-Q9NQH7
TrEMBL
UniProt Splice Variant
Entrez Gene 63929
UniGene Hs.667606
RefSeq NP_071381
HUGO HGNC:28052
OMIM 613553
CCDS CCDS14007
HPRD 10052
IMGT
EMBL AK301635 AK301758 AK313770 AL035450 AL365514 AL834310 BC001208 BC001681 BC004989 CH471095 CR456442 CR457396 Z98048
GenPept AAH01208 AAH01681 AAH04989 BAG36508 BAH13526 BAH13548 CAB97210 CAD38980 CAG30328 CAG33677 CAI19023 CAI20492 EAW60399

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca