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Aliases for XPNPEP3 Gene

Aliases for XPNPEP3 Gene

  • X-Prolyl Aminopeptidase 3, Mitochondrial 2 3
  • APP3 3 4 6
  • X-Prolyl Aminopeptidase (Aminopeptidase P) 3, Putative 2 3
  • Intermediate Cleaving Peptidase 55 2 3
  • X-Pro Aminopeptidase 3 3 4
  • NPHPL1 3 6
  • Probable Xaa-Pro Aminopeptidase 3 3
  • Aminopeptidase P3 4
  • EC 3.4.11.9 4
  • ICP55 3

External Ids for XPNPEP3 Gene

Summaries for XPNPEP3 Gene

Entrez Gene Summary for XPNPEP3 Gene

  • 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]

GeneCards Summary for XPNPEP3 Gene

XPNPEP3 (X-Prolyl Aminopeptidase 3, Mitochondrial) is a Protein Coding gene. Diseases associated with XPNPEP3 include nephronophthisis-like nephropathy 1 and nephronophthisis. GO annotations related to this gene include metallopeptidase activity and aminopeptidase activity.

Gene Wiki entry for XPNPEP3 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XPNPEP3 Gene

Genomics for XPNPEP3 Gene

Genomic Location for XPNPEP3 Gene

Start:
40,857,077 bp from pter
End:
40,932,819 bp from pter
Size:
75,743 bases
Orientation:
Plus strand

Genomic View for XPNPEP3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for XPNPEP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XPNPEP3 Gene

Regulatory Elements for XPNPEP3 Gene

Proteins for XPNPEP3 Gene

  • Protein details for XPNPEP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQH7-XPP3_HUMAN
    Recommended name:
    Probable Xaa-Pro aminopeptidase 3
    Protein Accession:
    Q9NQH7
    Secondary Accessions:
    • B2R9G1
    • B7Z790
    • B7Z7B2
    • Q6I9V9
    • Q8NDA6
    • Q9BV27
    • Q9BVH0

    Protein attributes for XPNPEP3 Gene

    Size:
    507 amino acids
    Molecular mass:
    57034 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 2 manganese ions per subunit.;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for XPNPEP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XPNPEP3 Gene

Proteomics data for XPNPEP3 Gene at MOPED

Post-translational modifications for XPNPEP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for XPNPEP3 Gene

No data available for DME Specific Peptides for XPNPEP3 Gene

Domains for XPNPEP3 Gene

Gene Families for XPNPEP3 Gene

UniProtKB/Swiss-Prot:

XPP3_HUMAN
Family:
  • Belongs to the peptidase M24B family.:
    • Q9NQH7
genes like me logo Genes that share domains with XPNPEP3: view

Function for XPNPEP3 Gene

Molecular function for XPNPEP3 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Release of any N-terminal amino acid, including proline, that is linked to proline, even from a dipeptide or tripeptide

Enzyme Numbers (IUBMB) for XPNPEP3 Gene

Gene Ontology (GO) - Molecular Function for XPNPEP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IMP 20179356
GO:0008237 metallopeptidase activity IEA --
GO:0030145 manganese ion binding IEA --
genes like me logo Genes that share ontologies with XPNPEP3: view

Phenotypes for XPNPEP3 Gene

GenomeRNAi human phenotypes for XPNPEP3:
genes like me logo Genes that share phenotypes with XPNPEP3: view

miRNA for XPNPEP3 Gene

miRTarBase miRNAs that target XPNPEP3

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for XPNPEP3 Gene

Localization for XPNPEP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XPNPEP3 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XPNPEP3 Gene COMPARTMENTS Subcellular localization image for XPNPEP3 gene
Compartment Confidence
mitochondrion 5
cytosol 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for XPNPEP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20179356
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with XPNPEP3: view

Pathways for XPNPEP3 Gene

SuperPathways for XPNPEP3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for XPNPEP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003094 glomerular filtration IMP 20179356
GO:0006508 proteolysis --
GO:0016485 protein processing IMP 20179356
genes like me logo Genes that share ontologies with XPNPEP3: view

No data available for Pathways by source for XPNPEP3 Gene

Compounds for XPNPEP3 Gene

(2) HMDB Compounds for XPNPEP3 Gene

Compound Synonyms Cas Number PubMed IDs
Cobalt
  • Co
7440-48-4
Manganese
  • manganese
7439-96-5
genes like me logo Genes that share compounds with XPNPEP3: view

Transcripts for XPNPEP3 Gene

Unigene Clusters for XPNPEP3 Gene

X-prolyl aminopeptidase (aminopeptidase P) 3, putative:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for XPNPEP3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5: - -
SP6: -
SP7: - - -

Relevant External Links for XPNPEP3 Gene

GeneLoc Exon Structure for
XPNPEP3
ECgene alternative splicing isoforms for
XPNPEP3

Expression for XPNPEP3 Gene

mRNA expression in normal human tissues for XPNPEP3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for XPNPEP3 Gene

SOURCE GeneReport for Unigene cluster for XPNPEP3 Gene Hs.529163

mRNA Expression by UniProt/SwissProt for XPNPEP3 Gene

Q9NQH7-XPP3_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are widely expressed, with isoform 1 being more abundant.
genes like me logo Genes that share expressions with XPNPEP3: view

Orthologs for XPNPEP3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for XPNPEP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XPNPEP3 36
  • 99.61 (n)
  • 99.61 (a)
XPNPEP3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia XPNPEP3 36
  • 88.03 (n)
  • 89.55 (a)
XPNPEP3 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XPNPEP3 36
  • 90.6 (n)
  • 92.9 (a)
XPNPEP3 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xpnpep3 16
Xpnpep3 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia XPNPEP3 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XPNPEP3 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xpnpep3 36
  • 87.81 (n)
  • 89.66 (a)
chicken
(Gallus gallus)
Aves XPNPEP3 36
  • 74.48 (n)
  • 78.96 (a)
XPNPEP3 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XPNPEP3 37
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10537 36
xpnpep3 36
  • 68.1 (n)
  • 69.82 (a)
zebrafish
(Danio rerio)
Actinopterygii xpnpep3 36
  • 61.82 (n)
  • 60.21 (a)
xpnpep3 37
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000887 36
  • 50.51 (n)
  • 42.64 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG32454 37
  • 22 (a)
OneToMany
CG9581 36
  • 50.71 (n)
  • 40.18 (a)
CG9581 37
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R119.2 37
  • 35 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL028W 36
  • 47.77 (n)
  • 39.23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ICP55 36
  • 47.63 (n)
  • 38.3 (a)
ICP55 37
  • 33 (a)
OneToOne
ICP55 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07645g 36
  • 44.94 (n)
  • 36.14 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G09300 36
  • 50.07 (n)
  • 40.93 (a)
rice
(Oryza sativa)
Liliopsida Os12g0563500 36
  • 48.42 (n)
  • 38.34 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05971 36
  • 47.48 (n)
  • 42.2 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes icp55 36
  • 47.37 (n)
  • 36.61 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 37 (a)
OneToOne
Species with no ortholog for XPNPEP3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for XPNPEP3 Gene

ENSEMBL:
Gene Tree for XPNPEP3 (if available)
TreeFam:
Gene Tree for XPNPEP3 (if available)

Paralogs for XPNPEP3 Gene

No data available for Paralogs for XPNPEP3 Gene

Variants for XPNPEP3 Gene

Sequence variations from dbSNP and Humsavar for XPNPEP3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs9917 -- 40,932,636(-) AAAGA(A/T)TGAAG utr-variant-3-prime
rs138351 -- 40,866,848(+) TTAAG(C/T)TCCCT intron-variant
rs138352 -- 40,872,921(+) GGAAT(G/T)CCTAA intron-variant
rs138353 -- 40,873,123(+) ttttt(-/T)gagac intron-variant
rs138354 -- 40,876,139(+) AGAAT(C/T)AGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for XPNPEP3 Gene

Variant ID Type Subtype PubMed ID
nsv428389 CNV Loss 18775914
esv2667574 CNV Deletion 23128226
nsv3635 CNV Insertion 18451855

Relevant External Links for XPNPEP3 Gene

HapMap Linkage Disequilibrium report
XPNPEP3
Human Gene Mutation Database (HGMD)
XPNPEP3

Disorders for XPNPEP3 Gene

(1) OMIM Diseases for XPNPEP3 Gene (613553)

UniProtKB/Swiss-Prot

XPP3_HUMAN
  • 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:0000269 PubMed:20179356}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for XPNPEP3 Gene

Relevant External Links for XPNPEP3

Genetic Association Database (GAD)
XPNPEP3
Human Genome Epidemiology (HuGE) Navigator
XPNPEP3
genes like me logo Genes that share disorders with XPNPEP3: view

Publications for XPNPEP3 Gene

  1. Aminopeptidase P isozyme expression in human tissues and peripheral blood mononuclear cell fractions. (PMID: 15708373) Ersahin C. … Simmons W.H. (Arch. Biochem. Biophys. 2005) 2 3 4
  2. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. (PMID: 20179356) O'Toole J.F. … Hildebrandt F. (J. Clin. Invest. 2010) 2 3 4
  3. Mitochondrial aminopeptidase deletion increases chronological lifespan and oxidative stress resistance while decreasing respiratory metabolism in S. cerevisiae. (PMID: 24116217) Stames E.M. … O'Toole J.F. (PLoS ONE 2013) 2 3
  4. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4

Products for XPNPEP3 Gene

Sources for XPNPEP3 Gene

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