Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



XPNPEP3 Gene

protein-coding   GIFtS: 57
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

TryGeneCards Plus

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

TryGeneCards Plus

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 late-onset autosomal recessive medullary cystic kidney disease. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   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 Chromatin IP Primers for XPNPEP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
41,363,838 bp from pter
Size:
110,758 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

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)
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See XPNPEP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000349658   ENSP00000394283   ENSP00000443682   ENSP00000397110   ENSP00000441942  

    XPNPEP3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for XPNPEP3
    OriGene Protein Over-expression Lysate for XPNPEP3
    OriGene MassSpec for XPNPEP3
    OriGene Custom Protein Services for XPNPEP3
    GenScript Custom Purified and Recombinant Proteins Services for XPNPEP3
    Novus Biologicals XPNPEP3 Protein
    Novus Biologicals XPNPEP3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for XPNPEP3

    XPNPEP3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for XPNPEP3
    OriGene Custom Antibody Services for XPNPEP3
    Novus Biologicals XPNPEP3 Antibodies
    Abcam antibodies for XPNPEP3
    Cloud-Clone Corp. Antibodies for XPNPEP3
    ThermoFisher Antibodies for XPNPEP3
    LSBio Antibodies in human, mouse, rat for XPNPEP3

    XPNPEP3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for XPNPEP3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for XPNPEP3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for XPNPEP3
    Cloud-Clone Corp. CLIAs for XPNPEP3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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:    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: Let us create your new Knockout/Knockin mouse model for XPNPEP3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for XPNPEP3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for XPNPEP3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for XPNPEP3

    miRNA
    Products:
        
    miRTarBase miRNAs that target XPNPEP3:
    hsa-mir-191-3p (MIRT042395), hsa-mir-16-5p (MIRT031703), hsa-mir-1 (MIRT003767)

    Block miRNA regulation of human, mouse, rat XPNPEP3 using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for XPNPEP3
    Predesigned siRNA for gene silencing in human, mouse, rat XPNPEP3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for XPNPEP3

    Clone
    Products:
         
    OriGene clones in human, mouse for XPNPEP3 (see all 8)
    OriGene ORF clones in mouse, rat for XPNPEP3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): XPNPEP3 (NM_022098)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XPNPEP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XPNPEP3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for XPNPEP3
    Browse ESI BIO Cell Lines and PureStem Progenitors for XPNPEP3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XPNPEP3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    XPP3_HUMAN, Q9NQH7: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    XPNPEP3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for XPNPEP3
    Interactions:

        Search GeneGlobe Interaction Network for XPNPEP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for XPNPEP3 (Q9NQH72, 3 ENSP000003496584) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    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): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003094glomerular filtration IMP--
    GO:0006508proteolysis ----
    GO:0016485protein processing IMP--

    XPNPEP3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    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
    8 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 ENST00000541156 ENST00000414396 ENST00000544094(uc010gyh.1 uc011aoy.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat XPNPEP3 using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
         
    OriGene RNAi products in human, mouse, rat for XPNPEP3
    Predesigned siRNA for gene silencing in human, mouse, rat XPNPEP3
    Clone
    Products:
         
    OriGene clones in human, mouse for XPNPEP3 (see all 8)
    OriGene ORF clones in mouse, rat for XPNPEP3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): XPNPEP3 (NM_022098)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XPNPEP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XPNPEP3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for XPNPEP3
    OriGene qSTAR qPCR primer pairs in human, mouse for XPNPEP3
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat XPNPEP3
      QuantiTect SYBR Green Assays in human, mouse, rat XPNPEP3
      QuantiFast Probe-based Assays in human, mouse, rat XPNPEP3

    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 

    Selected AceView cDNA sequences (see all 235):

    BU628165 BM697797 BU736087 BC001208 BC011632 BU584042 BU628809 BC037424 
    BC023654 BC045166 N43765 AA382300 BC039451 AA700729 AA121920 CA941832 
    AA743536 AI377541 BU620669 AI373300 BM980889 BX485696 AW593748 BX108020 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    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

    XPNPEP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    XPNPEP3 Protein Expression

    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

        Custom PCR Arrays for XPNPEP3
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for XPNPEP3
    OriGene qSTAR qPCR primer pairs in human, mouse for XPNPEP3
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat XPNPEP3
    QuantiTect SYBR Green Assays in human, mouse, rat XPNPEP3
    QuantiFast Probe-based Assays in human, mouse, rat XPNPEP3
    In Situ
    Assay Products:
     

     
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for XPNPEP3 gene from Selected species (see all 24)    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_416240.4  XP_416240.1 
    lizard
    (Anolis carolinensis)
    Reptilia XPNPEP36
    X-prolyl aminopeptidase (aminopeptidase P) 3, puta...
    73(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 50.71(n)
    40.18(a)
      33017  NM_134532.3  NP_608376.1 
    worm
    (Caenorhabditis elegans)
    Secernentea R119.26
    Protein R119.2 (R119.2) mRNA, complete cds
    35(a)
    1 ↔ 1
    I(368370-373445) WBGene00020088
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ICP55(YER078C)4
    ICP551
    Mitochondrial aminopeptidase; cleaves the N termini more4
    ICP551
    47.63(n)1
    38.3(a)1
      5(318342-316807)4
    8568111, 4  NP_011001.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G093001 AT1G09300 50.07(n)
    40.93(a)
      837451  NM_100800.3  NP_172401.2 
    rice
    (Oryza sativa)
    Liliopsida Os12g05635001 Os12g0563500 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

    TryGeneCards Plus
      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for XPNPEP3 (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 - 41363838 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing XPNPEP3
    DNA2.0 Custom Variant and Variant Library Synthesis for XPNPEP3

    (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

    TryGeneCards Plus
    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

  • 20 diseases for XPNPEP3:    About MalaCards
    nephronophthisis-like nephropathy 1    late-onset autosomal recessive medullary cystic kidney disease    nephronophthisis    end stage renal failure
    senior-loken syndrome    seckel syndrome    tremor    cystic kidney
    essential tremor    gout    mitochondrial disorders    sensorineural hearing loss
    dilated cardiomyopathy    kidney disease    mental retardation    cystic fibrosis
    hypertension    multiple myeloma    myeloma    malaria

    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

    TryGeneCards Plus

    PubMed articles for XPNPEP3 gene, integrated from 10 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. (J. Clin. Invest. 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. (Arch. Biochem. Biophys. 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. (Genome Res. 2004)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    6. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    7. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. (PubMed id 21068128)1 Otto E.A.... Hildebrandt F. (J. Med. Genet. 2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 63929 HGNC: 28052 AceView: LOC63929 Ensembl:ENSG00000196236 euGenes: HUgn63929
    ECgene: XPNPEP3 H-InvDB: XPNPEP3

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for XPNPEP3   OriGene RNAi products in human, mouse, rat for XPNPEP3  
     OriGene qPCR primer pairs and template standards for XPNPEP3   OriGene Protein Over-expression Lysate for XPNPEP3  
     OriGene MassSpec something-or-other for XPNPEP3   OriGene clones in human, mouse for XPNPEP3  
     OriGene qSTAR qPCR primer pairs in human, mouse for XPNPEP3   OriGene Purified Protein for XPNPEP3  
     OriGene ORF clones in mouse, rat for XPNPEP3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for XPNPEP3   OriGene Custom Protein Services for XPNPEP3  

     
     
     Block miRNA regulation of human, mouse, rat XPNPEP3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing XPNPEP3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat XPNPEP3 Predesigned siRNA for gene silencing in human, mouse, rat XPNPEP3
     QuantiFast Probe-based Assays in human, mouse, rat XPNPEP3 QuantiTect SYBR Green Assays in human, mouse, rat XPNPEP3
     Custom PCR Arrays for XPNPEP3 Search Chromatin IP Primers for XPNPEP3
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat XPNPEP3  Search GeneGlobe Interaction Network for XPNPEP3
     Regulatory tfbs in XPNPEP3 promoter
     GenScript Custom Purified and Recombinant Proteins Services for XPNPEP3 GenScript cDNA clones with any tag delivered in your preferred vector for XPNPEP3
     GenScript Custom Assay Services for XPNPEP3 GenScript Custom overexpressing Cell Line Services for XPNPEP3
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for XPNPEP3 (XPP3)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     XPNPEP3 antibodies
     XPNPEP3 proteins
     XPNPEP3 lysates
     Antibodies for XPNPEP3
     See all of Abcam's Antibodies, Kits and Proteins for XPNPEP3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for XPNPEP3
     Antibodies for XPNPEP3
     ELISAs for XPNPEP3
     CLIAs for XPNPEP3



     Browse ESI BIO Cell Lines and PureStem Progenitors for XPNPEP3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XPNPEP3
     SwitchGear 3'UTR luciferase reporter plasmids for XPNPEP3
     SwitchGear Promoter luciferase reporter plasmids for XPNPEP3
     ThermoFisher Antibodies for XPNPEP3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XPNPEP3
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XPNPEP3
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for XPNPEP3
     LSBio Antibodies in human, mouse, rat for XPNPEP3
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      XPNPEP3 gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4