Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

XPNPEP3 Gene

protein-coding   GIFtS: 56
GCID: GC22P041253

X-prolyl aminopeptidase (aminopeptidase P) 3, putative

 Explore 9 diseases affiliated with
XPNPEP3 via our new
 Human Malady Compendium 
Biological research products
for XPNPEP3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
X-Prolyl Aminopeptidase (Aminopeptidase P) 3, Putative1 2     Probable Xaa-Pro Aminopeptidase 32
APP31 2 3 5     EC 3.4.11.93
NPHPL11 2 5     Aminopeptidase P33
X-Pro Aminopeptidase 32 3     

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:
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 Wiki entry for XPNPEP3


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NQH7

  • XPNPEP3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000349658   ENSP00000394283   ENSP00000420255   ENSP00000418520   ENSP00000419387  
     ENSP00000419182   ENSP00000417249   ENSP00000419314   ENSP00000443682   ENSP00000397110  
     ENSP00000441942  

    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: XPNPEP3
    OriGene Protein Over-expression Lysate: 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 ProSpec Recombinant Proteins
    Uscn 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



    XPNPEP3 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies (see all 4): XPNPEP3
    OriGene Custom Antibody Services for XPNPEP3 
    GenScript Custom Superior Antibodies Services for XPNPEP3
    Novus Biologicals XPNPEP3 Antibodies
    Abcam antibodies for XPNPEP3 
    Uscn Antibodies for XPNPEP3
    ThermoFisher Antibodies for XPNPEP3

    Assay Products for XPNPEP3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for XPNPEP3
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for XPNPEP3


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

    XPNPEP3 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: IPB007865 Aminopeptidase P

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:
        
    miRTarBase miRNAs that target XPNPEP3:
    hsa-mir-1 (MIRT003767)

    OriGene 3'-UTR Clone: XPNPEP3
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat XPNPEP3
    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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for XPNPEP3 (see all 7)
    OriGene shRNA RFP: XPNPEP3
    OriGene siRNA: XPNPEP3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat XPNPEP3

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

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for XPNPEP3 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for XPNPEP3 (see all 3)
    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
    Search LifeMap BioReagents cell lines for XPNPEP3

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XPNPEP3

    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


    1 GenomeRNAi human phenotype for XPNPEP3:
     Increased Salmonella enterica  

    Animal Models:
         1 MGI phenotypic allele for Xpnpep3 (no phenotypes)

    XPNPEP3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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, 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

    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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    14 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 ENST00000498684 ENST00000479286 ENST00000476644
    ENST00000466988 ENST00000465561 ENST00000472203 ENST00000541156 ENST00000414396
    ENST00000544094(uc010gyh.1 uc011aoy.1)

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: XPNPEP3
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat XPNPEP3
    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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for XPNPEP3 (see all 7)
    OriGene shRNA RFP: XPNPEP3
    OriGene siRNA: XPNPEP3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat XPNPEP3
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for XPNPEP3 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for XPNPEP3 (see all 3)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for XPNPEP3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat XPNPEP3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XPNPEP3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XPNPEP3

    Additional cDNA 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):

    BX093383 BU628809 BQ446896 BX119041 AW593748 AI244347 BU620669 BC001208 
    BC004989 AI377541 BU736087 AI700904 CA942083 BC037424 AA699699 BU628165 
    BM016174 BC023654 BC039451 AA865115 BU584534 AI061329 AK057119 AL834310 

    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
    CGAP TAG: CGACTGCACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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

        SABiosciences Custom PCR Arrays for XPNPEP3
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for XPNPEP3
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat XPNPEP3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XPNPEP3
    QIAGEN 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

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for XPNPEP3 gene from 10/31 species (see all 31)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    76(a)
    1 ↔ 1
    5(26020244-26043563)
    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
    --
    33(a)
    1 ↔ 1
    I(368373-373448)
    A. gossypii yeast
    (Ashbya gossypii)
    Saccharomycetes AGOS_ACL028W1 ACL028Wp 47.9(n)
    39.36(a)
      4619501  NM_208729.1  NP_983376.1 
    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 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria pepP6
    proline aminopeptidase P II
    33(a)
    1 ↔ 1
    Chromosome(3051537-3052862)


    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, UniProtKB, 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

    10/1073 NCBI SNPs in XPNPEP3 are shown (see all 1073    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs130553861,2
    C,H--24216943(+) AATACT/CTTTGG 2 -- int14Minor allele frequency- C:0.00NS EA 418
    rs81354261,2
    C,F,A,H,--24217196(+) AACTGG/ATATCC 2 -- int19Minor allele frequency- A:0.09NS EA NA WA 1208
    rs770185511,2
    C,F,--24217704(+) TAAAAA/GTCAAA 2 -- int11Minor allele frequency- G:0.13WA 118
    rs170022171,2
    C,F,H,--24217852(+) TGCTCG/CATATC 2 -- int118Minor allele frequency- C:0.05NA NS EA WA 2126
    rs1124401291,2
    C,--24217994(+) GGAGTG/AATTCA 2 -- int11Minor allele frequency- A:0.50NA 2
    rs21879081,2
    C,H--24218074(+) AAATAT/GACTAC 2 -- int15Minor allele frequency- G:0.00NS EA NA 420
    rs57581111,2
    --24218713(+) aagacA/Ggggtc 2 -- spa1 int10--------
    rs738857081,2
    C,--24220441(+) ACTGCG/ACCTTA 2 -- ut31 int12Minor allele frequency- A:0.16WA 120
    rs96077501,2
    F,--24220820(+) tgtatA/Gattat 2 -- ds5001 int11Minor allele frequency- G:0.03NA 120
    rs776982021,2
    C,--24221496(+) TGATAC/TGCTAA 1 -- int12Minor allele frequency- T:0.06NA 122

    HapMap Linkage Disequilibrium report for XPNPEP3 (41253081 - 41368585 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for XPNPEP3
         1 CNV: 91067
    Human Gene Mutation Database (HGMD): XPNPEP3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    XPNPEP3 for disorders           About GeneDecksing

    OMIM gene information: 613553   
    OMIM disorders: 613159  
    UniProtKB/Swiss-Prot: XPP3_HUMAN, Q9NQH7
  • Defects in XPNPEP3 are the cause of nephronophthisis-like nephropathy type 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

    9 diseases for XPNPEP3:    About MalaCards
    nephronophthisis-like nephropathy 1    nephronophthisis    senior-loken syndrome    nephropathy
    end stage renal failure    essential tremor    tremor    cystic kidney
    gout

    3 diseases from the University of Copenhagen DISEASES database for XPNPEP3:
    Nephronophthisis     Cystic kidney     Seckel syndrome
    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 20):
    (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. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)1 Emanuele M.J....Elledge S.J. (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
     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
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for XPNPEP3   OriGene shRNA RFP for XPNPEP3  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for XPNPEP3   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for XPNPEP3  
     OriGene Protein Over-expression Lysate for XPNPEP3   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for XPNPEP3   OriGene 3'-UTR Clone for XPNPEP3  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for XPNPEP3   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for XPNPEP3  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein 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  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat XPNPEP3
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing XPNPEP3
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XPNPEP3
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat XPNPEP3
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XPNPEP3
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XPNPEP3
     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 Superior Antibodies 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

     Regulatory tfbs in XPNPEP3 promoter
     Search Chromatin IP Primers for XPNPEP3
     RT2 qPCR Primer Assay in human, mouse / rat XPNPEP3
     Search GNC Networks for XPNPEP3
     SABiosciences Custom PCR Arrays for XPNPEP3
     Search Tocris compounds for XPNPEP3
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     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




     XPNPEP3 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines 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
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4