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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

XPNPEP3 Gene

protein-coding   GIFtS: 58
GCID: GC22P041253

X-Prolyl Aminopeptidase (Aminopeptidase P) 3, Putative

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
X-Prolyl Aminopeptidase (Aminopeptidase P) 3, Putative1 2     Probable Xaa-Pro Aminopeptidase 32
APP32 3 5     EC 3.4.11.93
X-Pro Aminopeptidase 32 3     Aminopeptidase P33
NPHPL12 5     

External Ids:    HGNC: 280521   Entrez Gene: 639292   Ensembl: ENSG000001962367   OMIM: 6135535   UniProtKB: Q9NQH73   

Export aliases for XPNPEP3 gene to outside databases

Previous GC identifers: GC22P039583 GC22P024215


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (aminopeptidase P) 3, putative) 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the XPNPEP3 gene promoter:
         Elk-1   HNF-1A   Evi-1   C/EBPalpha   Pax-3   PPAR-gamma1   POU2F1   HNF-1   POU2F1a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidXPNPEP3 promoter sequence
   Search SABiosciences Chromatin IP Primers for XPNPEP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XPNPEP3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

XPNPEP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XPNPEP3 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P041253:  view genomic region     (about GC identifiers)

Start:
41,253,081 bp from pter      End:
41,368,585 bp from pter
Size:
115,505 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: XPP3_HUMAN, Q9NQH7 (See protein sequence)
Recommended Name: Probable Xaa-Pro aminopeptidase 3  
Size: 507 amino acids; 57034 Da
Cofactor: Binds 2 manganese ions per subunit (By similarity)
Subcellular location: Mitochondrion
Secondary accessions: B2R9G1 B7Z790 B7Z7B2 Q6I9V9 Q8NDA6 Q9BV27 Q9BVH0
Alternative splicing: 5 isoforms:  Q9NQH7-1   Q9NQH7-2   Q9NQH7-3   Q9NQH7-4   Q9NQH7-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for XPNPEP3: NX_Q9NQH7

Explore proteomics data for XPNPEP3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NQH7

  • XPNPEP3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    XPNPEP3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001191756.1  NP_071381.1  

    ENSEMBL proteins: 
     ENSP00000349658   ENSP00000394283   ENSP00000419387   ENSP00000443682   ENSP00000397110  
     ENSP00000441942  

    Human Recombinant Protein Products for XPNPEP3: 
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    Cloud-Clone Corp. Proteins for XPNPEP3 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--

    XPNPEP3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: X-prolyl aminopeptidase 3 
    Aminopeptidases

    2 InterPro protein domains:
     IPR007865 Aminopep_P_N
     IPR000994 Pept_M24_structural-domain

    Graphical View of Domain Structure for InterPro Entry Q9NQH7

    ProtoNet protein and cluster: Q9NQH7

    1 Blocks protein domain: IPB007865 Aminopeptidase P

    UniProtKB/Swiss-Prot: XPP3_HUMAN, Q9NQH7
    Similarity: Belongs to the peptidase M24B family


    XPNPEP3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XPP3_HUMAN, Q9NQH7
    Catalytic activity: Release of any N-terminal amino acid, including proline, that is linked to proline, even from
    a dipeptide or tripeptide

         Enzyme Number (IUBMB): EC 3.4.11.91

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity IMP--
    GO:0008237metallopeptidase activity IEA--
    GO:0030145manganese ion binding IEA--
         
    XPNPEP3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for XPNPEP3:
     Increased Salmonella enterica  

         1 MGI phenotypic allele for Xpnpep3 (no phenotypes)

    XPNPEP3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for XPNPEP3 
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    miRNA
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    miRTarBase miRNAs that target XPNPEP3:
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    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate XPNPEP3 (see all 39):
    hsa-miR-548j hsa-miR-25 hsa-miR-632 hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-378 hsa-miR-4293 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidXPNPEP3 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for XPNPEP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/61 Interacting proteins for XPNPEP3 (Q9NQH72, 3 ENSP000003496584) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003094glomerular filtration IMP--
    GO:0006508proteolysis IEA--
    GO:0009987cellular process IEA--
    GO:0016485protein processing IMP--

    XPNPEP3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for XPNPEP3 (XPP3)

    2 HMDB Compounds for XPNPEP3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CobaltCo (see all 6)7440-48-4--
    Manganesemanganese 7439-96-5--

    Search CenterWatch for drugs/clinical trials and news about XPNPEP3 / XPP3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for XPNPEP3 gene (2 alternative transcripts): 
    NM_001204827.1  NM_022098.3  

    Unigene Cluster for XPNPEP3:

    X-prolyl aminopeptidase (aminopeptidase P) 3, putative
    Hs.529163  [show with all ESTs]
    Unigene Representative Sequence: NM_022098
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417688 ENST00000482652(uc003azf.2 uc003azg.2) ENST00000357137(uc011aox.2 uc003azh.3 uc003azi.3)
    ENST00000428799 ENST00000465258 ENST00000476644 ENST00000541156 ENST00000414396
    ENST00000544094(uc010gyh.1 uc011aoy.1)
    miRNA
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    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate XPNPEP3 (see all 39):
    hsa-miR-548j hsa-miR-25 hsa-miR-632 hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-378 hsa-miR-4293 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidXPNPEP3 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XPNPEP3
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    Additional mRNA sequence: 

    AK057119.1 AK301635.1 AK310502.1 AK313770.1 AL365514.1 AL834310.1 BC001208.1 BC001681.2 
    BC004989.1 BC005331.1 BC011632.2 BC016735.1 BC023654.2 BC032537.1 BC045166.1 BC053556.1 
    BC062446.1 BX648018.1 CR456442.1 CR457396.1 

    21 DOTS entries:

    DT.205707  DT.97763705  DT.85105369  DT.92425919  DT.105823  DT.120649898  DT.121643852  DT.442197 
    DT.100017483  DT.120649998  DT.100747943  DT.100017002  DT.99999203  DT.121643429  DT.100733032  DT.100813100 
    DT.113562  DT.120649917  DT.120649932  DT.95370228  DT.100813103 

    24/235 AceView cDNA sequences (see all 235):

    AA382300 BF195962 BX119041 NM_022098 AA865115 BE671170 BX108020 BU584534 
    AW205549 AA699699 AI244347 BC053556 BU736087 AA121920 N43765 AA700729 
    AL365514 BC045166 AI700904 BC004989 AI377541 BC037424 BM980889 BU620669 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for XPNPEP3 (see all 7)    About this scheme

    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:                                -     -                                                                                 


    ECgene alternative splicing isoforms for XPNPEP3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    XPNPEP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGACTGCACT
    XPNPEP3 Expression
    About this image


    See XPNPEP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for XPNPEP3

    SOURCE GeneReport for Unigene cluster: Hs.529163

    UniProtKB/Swiss-Prot: XPP3_HUMAN, Q9NQH7
    Tissue specificity: Isoform 1 and isoform 2 are widely expressed, with isoform 1 being more abundant

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XPNPEP3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for XPNPEP3 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xpnpep35 X-prolyl aminopeptidase (aminopeptidase P) 3, putative   --   15 (38.08 cM) 81400138 
    chicken
    (Gallus gallus)
    Aves XPNPEP31 X-prolyl aminopeptidase (aminopeptidase P) 3, putative 74.48(n)
    78.96(a)
      418002  XM_416240.3  XP_416240.1 
    lizard
    (Anolis carolinensis)
    Reptilia XPNPEP36
    X-prolyl aminopeptidase (aminopeptidase P) 3, puta...
    72(a)
    1 ↔ 1
    5(26014704-26046818)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480251122   -- 75.02(n)    48025112 
    zebrafish
    (Danio rerio)
    Actinopterygii xpnpep31 X-prolyl aminopeptidase (aminopeptidase P) 3, putative 61.82(n)
    60.21(a)
      573360  NM_207079.1  NP_996962.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG95811 CG9581 49.74(n)
    37.97(a)
      33017  NM_134532.3  NP_608376.1 
    worm
    (Caenorhabditis elegans)
    Secernentea R119.26
    Protein R119.2
    32(a)
    1 ↔ 1
    I(368370-373445)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ICP55(YER078C)4 Mitochondrial aminopeptidase; cleaves the N termini more   --   5(318342-316807) 856811  NP_011001.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G093001 metallopeptidase M24-like protein 50.22(n)
    40.93(a)
      837451  NM_100800.3  NP_172401.2 
    rice
    (Oryza sativa)
    Liliopsida Os12g05635001 hypothetical protein 48.42(n)
    38.34(a)
      4352534  NM_001073569.1  NP_001067037.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1444 SNPs in XPNPEP3 are shown (see all 1444)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0638204
    Nephronophthisis-like nephropathy 1 (NPHPL1)4--see VAR_0638202 G C mis40--------
    rs670525161,2
    C--24253162(+) TTTTTT/-TGAGG 1 -- int11Minor allele frequency- -:0.00NA 2
    rs360884201,2
    C--24260694(+) GACTC-/CTCTGTT 1 -- int10--------
    rs57581251,2
    --24260696(+) CTCCTC/GTGTTT 1 -- int10--------
    rs57581281,2
    C,A--24275828(+) tctgtC/Ttaaaa 1 -- int10--------
    rs1382757321,2
    C--24276601(+) GGTGG-/TGTTTT 1 -- int10--------
    rs353269081,2
    C--24276602(+) TTTTT-/TGTTGT 1 -- int10--------
    rs2009057571,2
    --24276610(+) TTTTT-/GTTGTT 1 -- int10--------
    rs1431551981,2
    --25165889(+) ATCACG/TCTGGG 2 -- us2k10--------
    rs1845037551,2
    --25165963(+) GTTCAA/TGACAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for XPNPEP3 (41253081 - 41368585 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for XPNPEP3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2667574CNV Deletion23128226
    nsv3635CNV Insertion18451855
    nsv428389CNV Loss18775914


    Human Gene Mutation Database (HGMD): XPNPEP3
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613553   
    OMIM disorders: 613159  
    UniProtKB/Swiss-Prot: XPP3_HUMAN, Q9NQH7
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 16 diseases for XPNPEP3:    About MalaCards
    nephronophthisis-like nephropathy 1    nephronophthisis    end stage renal failure    seckel syndrome
    senior-loken syndrome    cystic kidney    essential tremor    tremor
    gout    mitochondrial disorders    sensorineural hearing loss    dilated cardiomyopathy
    mental retardation    kidney disease    anemia    hypertension

    3 diseases from the University of Copenhagen DISEASES database for XPNPEP3:
    Nephronophthisis     Cystic kidney     Seckel syndrome

    XPNPEP3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): XPNPEP3
    Human Genome Epidemiology (HuGE) Navigator: XPNPEP3 (1 document)

    Export disorders for XPNPEP3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for XPNPEP3 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with XPNPEP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. (PubMed id 20179356)1, 2, 3 O'Toole J.F....Hildebrandt F. (2010)
    2. Aminopeptidase P isozyme expression in human tissues and peripheral blood mononuclear cell fractions. (PubMed id 15708373)1, 2, 3 Ersahin C.... Simmons W.H. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    6. Bcl2-associated Athanogene 3 Interactome Analysis Reve als a New Role in Modulating Proteasome Activity. (PubMed id 23824909)1 Chen Y....Ge F. (2013)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Mutation analysis of 18 nephronophthisis associated c iliopathy disease genes using a DNA pooling and next generation sequencing stra tegy. (PubMed id 21068128)1 Otto E.A....Hildebrandt F. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 63929 HGNC: 28052 AceView: LOC63929 Ensembl:ENSG00000196236 euGenes: HUgn63929
    ECgene: XPNPEP3 H-InvDB: XPNPEP3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for XPNPEP3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for XPNPEP3 gene:
    Search GeneIP for patents involving XPNPEP3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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