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NPEPPS Gene

protein-coding   GIFtS: 65
GCID: GC17P045608

Aminopeptidase Puromycin Sensitive

  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)
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Aliases
Aminopeptidase Puromycin Sensitive1 2     MP1002 5
PSA2 3 5     EC 3.4.11.143
Metalloproteinase MP1001 2     EC 3.4.118
Puromycin-Sensitive Aminopeptidase1 2     EC 3.4.11.28
Cytosol Alanyl Aminopeptidase2 3     EC 3.4.11.38
AAP-S2 3     

External Ids:    HGNC: 79001   Entrez Gene: 95202   Ensembl: ENSG000001412797   OMIM: 6067935   UniProtKB: P557863   

Export aliases for NPEPPS gene to outside databases

Previous GC identifers: GC17P035973 GC17P048089 GC17P045950 GC17P046083 GC17P042963 GC17P041029


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NPEPPS Gene:
This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids
from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular
membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in
proteolytic events regulating the cell cycle. (provided by RefSeq, Jul 2008)

GeneCards Summary for NPEPPS Gene:
NPEPPS (aminopeptidase puromycin sensitive) is a protein-coding gene. Diseases associated with NPEPPS include high pressure neurological syndrome, and tauopathy. GO annotations related to this gene include metallopeptidase activity and aminopeptidase activity. An important paralog of this gene is LNPEP.

UniProtKB/Swiss-Prot: PSA_HUMAN, P55786
Function: Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events
essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the
antigen-processing pathway for MHC class I molecules. Involved in the N-terminal trimming of cytotoxic T-cell
epitope precursors. Digests the poly-Q peptides found in many cellular proteins. Digests tau from normal brain
more efficiently than tau from Alzheimer disease brain

Gene Wiki entry for NPEPPS 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)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NPEPPS gene promoter:
         Sp1   Pax-5   Meis-1b   FOXL1   Egr-4   GATA-1   MEF-2A   Msx-1   aMEF-2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPEPPS promoter sequence
   Search Chromatin IP Primers for NPEPPS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPEPPS


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

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.32   HGNC cytogenetic band: 17q12-q21

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P045608:  view genomic region     (about GC identifiers)

Start:
45,600,308 bp from pter      End:
45,700,642 bp from pter
Size:
100,335 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PSA_HUMAN, P55786 (See protein sequence)
Recommended Name: Puromycin-sensitive aminopeptidase  
Size: 919 amino acids; 103276 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Monomer
Caution: It is uncertain whether Met-1 or Met-45 is the initiator. N-terminal sequencing in PubMed:10978616
suggests that Met-45 is used, followed by methionine initiator removal
Sequence caution: Sequence=AAH65294.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAA68964.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6P145 Q9NP16 Q9UEM2

Explore the universe of human proteins at neXtProt for NPEPPS: NX_P55786

Explore proteomics data for NPEPPS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys155, Lys208, Lys234, Lys287, Lys293, Lys455, Lys467
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NPEPPS (P55786) (see all 6)
     WLNEGFA  STYLVAF  WFGNLVT  GAMENWG 


    See NPEPPS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006301.3  
    ENSEMBL proteins: 
     ENSP00000437019   ENSP00000433287   ENSP00000433735   ENSP00000434554   ENSP00000320324  
     ENSP00000434585   ENSP00000433649   ENSP00000435639   ENSP00000436733   ENSP00000435966  
     ENSP00000432127   ENSP00000433549   ENSP00000442461  
    Reactome Protein details: P55786

    NPEPPS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for NPEPPS
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    Novus Biologicals NPEPPS Protein
    Novus Biologicals NPEPPS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    NPEPPS Antibody Products:

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    NPEPPS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Puromycin-sensitive aminopeptidase
    Aminopeptidases

    4 InterPro protein domains:
     IPR014782 Peptidase_M1_N
     IPR024571 ERAP1-like_C_dom
     IPR015568 NPEPPS
     IPR001930 Peptidase_M1

    Graphical View of Domain Structure for InterPro Entry P55786

    ProtoNet protein and cluster: P55786

    1 Blocks protein domain: IPB001930 Membrane alanyl dipeptidase (M1) family signature

    UniProtKB/Swiss-Prot: PSA_HUMAN, P55786
    Similarity: Belongs to the peptidase M1 family


    NPEPPS 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PSA_HUMAN, P55786
    Function: Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events
    essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the
    antigen-processing pathway for MHC class I molecules. Involved in the N-terminal trimming of cytotoxic T-cell
    epitope precursors. Digests the poly-Q peptides found in many cellular proteins. Digests tau from normal brain
    more efficiently than tau from Alzheimer disease brain
    Catalytic activity: Release of an N-terminal amino acid, preferentially alanine, from a wide range of peptides,
    amides and arylamides
    Enzyme regulation: Strongly inhibited by bestatin, leuhistin, actinonin, amastatin, 1,10-phenanthroline, DFP,
    PCMBS, Zn(2+), Cd(2+), Co(2+), Cu(2+), Hg(2+), EDTA and puromycin. Not inhibited by PMSF, and only slightly
    inhibited by leupeptin and aprotinin. Activity is increased by Mg(2+) and Ca(2+)
    Biophysicochemical properties: Kinetic parameters: KM=2.20 mM for Lys-p-NA; KM=0.25 mM for Leu-p-NA; KM=0.27 mM
    for Ala-p-NA; KM=0.80 mM for Met-p-NA; KM=0.47 mM for Pro-p-NA; KM=0.21 mM for Val-p-NA; KM=182 uM for Ala-MCA;
    KM=189 uM for Met-MCA; KM=220 uM for Lys-MCA; KM=91 uM for Leu-MCA; KM=167 uM for Phe-MCA; pH dependence: Optimum
    pH is 7.5. Stable from pH 5.0 to 8.0; Temperature dependence: Stable up to 40 degrees Celsius;

         Genatlas biochemistry entry for NPEPPS:
    aminopeptidase puromycin sensitive,expressed in the brain (most abundant aminopeptidase),localized in cortical and
    cerebellar neurons,putatively contributing to the degradation of enkephalins

         Enzyme Numbers (IUBMB): EC 3.4.11.32 EC 3.4.11.141 EC 3.4.11.22 EC 3.4.112

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity IEA--
    GO:0008237metallopeptidase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    NPEPPS for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NPEPPS:
     Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Npepps):
     behavior/neurological  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  immune system 
     integument  mortality/aging  reproductive system 

    NPEPPS for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPEPPS
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPEPPS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPEPPS

    miRNA
    Products:
        
    miRTarBase miRNAs that target NPEPPS:
    hsa-mir-122-5p (MIRT023333), hsa-mir-93-5p (MIRT048787), hsa-mir-320a (MIRT044392), hsa-mir-423-3p (MIRT042580), hsa-mir-484 (MIRT041818), hsa-mir-27b-3p (MIRT046171)

    Block miRNA regulation of human, mouse, rat NPEPPS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NPEPPS (see all 56):
    hsa-miR-1197 hsa-miR-513a-5p hsa-miR-128 hsa-miR-3653 hsa-miR-138-2* hsa-miR-4274 hsa-miR-489 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidNPEPPS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NPEPPS
    Predesigned siRNA for gene silencing in human, mouse, rat NPEPPS

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

    Clone
    Products:
         
    OriGene clones in human, mouse for NPEPPS (see all 8)
    OriGene ORF clones in mouse, rat for NPEPPS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPEPPS (NM_006310)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPEPPS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPEPPS

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NPEPPS 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPEPPS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PSA_HUMAN, P55786: Cytoplasm, cytosol. Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion3
    nucleus3
    plasma membrane3
    endoplasmic reticulum1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    NPEPPS 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).
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    SuperPaths for NPEPPS About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    2Selected targets of GCR alpha
    Selected targets of GCR alpha

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for NPEPPS
        Antigen processing: Ubiquitination & Proteasome degradation



    NPEPPS for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for NPEPPS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NPEPPS (P557861, 3 ENSP000003203244) via UniProtKB, MINT, STRING, and/or I2D (see all 135)
    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination TAS--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006508proteolysis ----
    GO:0071456cellular response to hypoxia IDA--

    NPEPPS 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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NPEPPS (PSA)

    6 Novoseek inferred chemical compound relationships for NPEPPS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thimet 76 2 14734113 (1)
    puromycin 74.8 21 17154549 (4), 9244402 (3), 11082703 (2), 20377816 (2) (see all 6)
    bestatin 72.5 2 11082703 (1)
    bleomycin 55.3 6 15187416 (1), 12200051 (1), 14734113 (1), 16455981 (1)
    leucine 35.1 3 15187416 (1), 16455981 (1)
    glutamine 12.4 4 17318184 (2), 12729622 (1)



    NPEPPS for compounds           About GeneDecksing



    (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,
    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 )
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    REFSEQ mRNAs for NPEPPS gene: 
    NM_006310.3  

    Unigene Cluster for NPEPPS:

    Aminopeptidase puromycin sensitive
    Hs.443837  [show with all ESTs]
    Unigene Representative Sequence: NM_006310
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000525007 ENST00000525037(uc010dba.1) ENST00000528751 ENST00000530173
    ENST00000526247 ENST00000532729 ENST00000322157(uc010wkt.2 uc002ilr.4 uc010wku.2 uc010wkv.2)
    ENST00000533573 ENST00000527298 ENST00000534691 ENST00000602788 ENST00000527824
    ENST00000534727 ENST00000534814 ENST00000525401 ENST00000527964 ENST00000530514
    ENST00000527360
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate NPEPPS (see all 56):
    hsa-miR-1197 hsa-miR-513a-5p hsa-miR-128 hsa-miR-3653 hsa-miR-138-2* hsa-miR-4274 hsa-miR-489 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidNPEPPS 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: NPEPPS (NM_006310)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPEPPS
    Primer
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    OriGene qPCR primer pairs and template standards for NPEPPS
    OriGene qSTAR qPCR primer pairs in human, mouse for NPEPPS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPEPPS
      QuantiTect SYBR Green Assays in human, mouse, rat NPEPPS
      QuantiFast Probe-based Assays in human, mouse, rat NPEPPS

    Additional mRNA sequence: 

    AJ132583.1 AK095877.1 AK096491.1 AK096709.1 AK293450.1 AK293995.1 AK296887.1 AK297107.1 
    AK303037.1 BC065294.1 BC067792.1 NR_036750.1 XR_172201.1 

    Selected DOTS entries (see all 37):

    DT.85104799  DT.91934981  DT.100810296  DT.100824478  DT.70101756  DT.91811703  DT.102843581  DT.100727004 
    DT.100824472  DT.40117560  DT.120896689  DT.91883443  DT.100640887  DT.120896634  DT.86835850  DT.120896722 
    DT.419664  DT.91982917  DT.97864464  DT.99987084  DT.100809252  DT.100824473  DT.120896643  DT.120896678 

    Selected AceView cDNA sequences (see all 558):

    BQ637169 Z46195 AA811175 BQ918409 AW572592 AW055008 H88733 BU618303 
    CB052405 BE255877 AA043325 BM474975 BM750492 AW474894 AW160904 BE253168 
    AA236597 BU159521 AW515849 AA356510 AA775234 AI922696 AI201527 W61096 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NPEPPS    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^
    SP1:                                                                          -                       -                                               -     -   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                  -         
    SP4:                                                                                                                                                            

    ExUns: 23 ^ 24a · 24b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  


    ECgene alternative splicing isoforms for NPEPPS

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


    NPEPPS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Lung (Respiratory System)
             Trachea
     
     Kidney (Urinary System)
             Metanephros
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Ovary (Reproductive System)
    NPEPPS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPEPPS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443837

    UniProtKB/Swiss-Prot: PSA_HUMAN, P55786
    Tissue specificity: Detected in liver, epithelium of renal tubules, epithelium of small and large intestine,
    gastric epithelial cells, and alveoli of the lung (at protein level)

        Custom PCR Arrays for NPEPPS
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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NPEPPS gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Npepps1 , 5 aminopeptidase puromycin sensitive1, 5 92.71(n)1
    96.84(a)1
      11 (60.95 cM)5
    191551  NM_008942.21  NP_032968.21 
     972058425 
    chicken
    (Gallus gallus)
    Aves NPEPPS1 aminopeptidase puromycin sensitive 84.35(n)
    91.96(a)
      426231  XM_001234985.3  XP_001234986.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    91(a)
    1 → many
    6(74082401-74177355)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA987419.12   -- 77.26(n)    CA987419.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC055665.12   -- 76.64(n)    BC055665.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Psa1 , 3 cytosol alanyl aminopeptidase3
    Puromycin sensitive aminopeptidase1
    56(a)
    (best of 3)3
    56.59(n)1
    56.98(a)1
      381751  NM_167883.21  NP_728614.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F49E8.33
    pam-11
    pam-11 39(a)
    (best of 5)3
    49.81(n)1
    39.84(a)1
      IV(7544328-7547304)3
    1775281  NM_001028039.11  NP_001023210.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AAP1(YHR047C)4
    APE21
    Arginine/alanine aminopeptidase, overproduction stimulates more4
    APE21
    47.14(n)1
    36.75(a)1
      8(201310-198740)4
    8536991  NP_012765.31  8564434 
     NP_011913.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons APM11 APM1 53.28(n)
    47.4(a)
      829446  NM_119463.4  NP_195035.2 
    rice
    (Oryza sativa)
    Liliopsida AK120068.12   -- 75.43(n)    AK120068.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NPEPPS gene
    LNPEP2  ENPEP2  TRHDE2  ANPEP2  LOC1010602122  ERAP12  AQPEP2  ERAP22  
    8 SIMAP similar genes for NPEPPS using alignment to 13 protein entries:     PSA_HUMAN (see all proteins):
    NPEPPSL1    LOC100510707    ANPEP    TRHDE    ENPEP    LNPEP
    ERAP2    ERAP1

    NPEPPS for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for NPEPPS
    PGOHUM00000258041 PGOHUM00000258042


    (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)
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    Selected SNPs for NPEPPS (see all 1709)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1814450841,2
    --45606581(+) ACTTTA/GAATAA 1 -- us2k10--------
    rs98911181,2
    C,A,H--45606584(+) TTAAAA/G/TAACAT 1 -- us2k15NA WA 14
    rs26119881,2
    C,H--45606594(-) AATTTA/TAAAAA 1 -- us2k10--------
    rs794814291,2
    F--45606809(+) GTTGTA/CGCCCA 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs2000296081,2
    C--45607102(+) GTTACA/TTTATA 1 -- us2k10--------
    rs2011055901,2
    C--45607103(+) TTACAA/TTATAT 1 -- us2k10--------
    rs1865646531,2
    --45607167(+) AAGGTA/GTCTAC 1 -- us2k10--------
    rs2005383591,2
    C--45607285(+) CCCAT-/TTTA  
            
    TTTAT
    1 -- us2k10--------
    rs1910746351,2
    --45607312(+) TATTTA/TTTTAT 1 -- us2k10--------
    rs1828670801,2
    --45607316(+) TATTTA/TTTTTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NPEPPS (45600308 - 45700642 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NPEPPS (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675559CNV Deletion23128226
    esv2716010CNV Deletion23290073
    nsv471513CNV Duplication19718026
    nsv471403CNV Duplication19718026
    nsv821341CNV Duplication20802225
    esv33689CNV Loss17666407
    nsv471701CNV Gain15918152
    nsv428344CNV Gain18775914
    nsv482203CNV Gain20164927
    nsv828034CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NPEPPS
    DNA2.0 Custom Variant and Variant Library Synthesis for NPEPPS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606793    OMIM disorders: --

    20 diseases for NPEPPS:    
    About MalaCards
    high pressure neurological syndrome    tauopathy    clear cell renal cell carcinoma    frontotemporal dementia
    renal cell carcinoma    dementia    bipolar disorder    alzheimer's disease
    pneumonia    cystic fibrosis    prostate cancer    prostatitis
    hypoxia    tuberculosis    schizophrenia    squamous cell carcinoma
    hiv-1    malaria    cerebritis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for NPEPPS:
    Schizophrenia     Bipolar disorder

    NPEPPS for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for NPEPPS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tauopathies 64.1 2 16950154 (2)
    alzheimers disease 6.57 1 17476590 (1)
    tumors 0 4 16985214 (1), 12431818 (1)
    prostate cancer 0 2 12431818 (2)

    Human Genome Epidemiology (HuGE) Navigator: NPEPPS (1 document)

    Export disorders for NPEPPS 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

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    PubMed articles for NPEPPS gene, integrated from 10 sources (see all 79) (see top 10):
    (articles sorted by number of sources associating them with NPEPPS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the human puromycin-sensitive aminopeptidase and evidence for expression in neurons. (PubMed id 9048733)1, 2, 3, 9 Tobler A.R.... Fontana A. (J. Neurochem. 1997)
    2. Cloning and analysis of the gene for the human puromycin-sensitive aminopeptidase. (PubMed id 10329370)1, 2, 3, 9 Thompson M.W.... Hersh L.B. (Biochem. Biophys. Res. Commun. 1999)
    3. Human puromycin-sensitive aminopeptidase: cloning of 3' UTR, evidence for a polymorphism at a.a. 140 and refined chromosomal localization to 17q21. (PubMed id 11435692)1, 2, 9 Bauer W.O.... Jakob F. (Cytogenet. Cell Genet. 2001)
    4. 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)
    5. Degradation of tau protein by puromycin-sensitive aminopeptidase in vitro. (PubMed id 17154549)2, 9 Sengupta S.... Binder L.I. (Biochemistry 2006)
    6. cDNA cloning and molecular characterization of human brain metalloprotease MP100: a beta-secretase candidate? (PubMed id 10037494)1, 9 Huber G....Malherbe P. (J. Neurochem. 1999)
    7. Involvement of puromycin-sensitive aminopeptidase in proteolysis of tau protein in cultured cells, and attenuated proteolysis of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) mutant tau. (PubMed id 20377816)1, 9 Yanagi K....Takeda M. (Psychogeriatrics 2009)
    8. Puromycin-sensitive aminopeptidase is the major peptidase responsible for digesting polyglutamine sequences released by proteasomes during protein degradation. (PubMed id 17318184)2, 9 Bhutani N.... Goldberg A.L. (EMBO J. 2007)
    9. Cobalt chloride-induced downregulation of puromycin-sensitive aminopeptidase suppresses the migration and invasion of PC-3 cells. (PubMed id 19494703)1, 9 Lee S.H. and Kim H.G. (J. Microbiol. Biotechnol. 2009)
    10. Cytosolic aminopeptidases influence MHC class I-mediated antigen presentation in an allele-dependent manner. (PubMed id 19917696)2, 9 Kim E.... Ahn K. (J. Immunol. 2009)
    11. Analysis of conserved residues of the human puromycin-sensitive aminopeptidase. (PubMed id 14706550)1, 9 Thompson M.W. and Hersh L.B. (Peptides 2003)
    12. Mutation of active site residues of the puromycin-sensitive aminopeptidase: conversion of the enzyme into a catalytically inactive binding protein. (PubMed id 12729622)2, 9 Thompson M.W.... Hersh L.B. (Arch. Biochem. Biophys. 2003)
    13. A Proteomics Strategy for the Identification of FAT10-Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (J. Proteome Res. 2014)
    14. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    15. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PubMed id 23349634)1 Cloutier P.... Coulombe B. (PLoS Genet. 2013)
    16. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    17. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    18. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    19. Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C.... Cristea I.M. (Mol. Cell. Proteomics 2012)
    20. A catalogue of putative HIV-1 protease host cell substrates. (PubMed id 22944692)1 Impens F....Gevaert K. (Biol. Chem. 2012)
    21. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (J. Proteome Res. 2012)
    22. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    23. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    24. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    25. Mindbomb 1, an E3 ubiquitin ligase, forms a complex with RYK to activate Wnt/I^-catenin signaling. (PubMed id 21875946)1 Berndt J.D....Moon R.T. (J. Cell Biol. 2011)
    26. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    27. Puromycin-sensitive aminopeptidase (PSA/NPEPPS) impedes development of neuropathology in hPSA/TAU(P301L) double-transgenic mice. (PubMed id 21320871)1 Kudo L.C....Karsten S.L. (Hum. Mol. Genet. 2011)
    28. An important role for CDK2 in G1 to S checkpoint activation and DNA damage response in human embryonic stem cells. (PubMed id 21319273)1 Neganova I....Lako M. (Stem Cells 2011)
    29. Nuclear import of histone deacetylase 5 by requisite nuclear localization signal phosphorylation. (PubMed id 21081666)1 Greco T.M....Cristea I.M. (amp 2011)
    30. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    31. Identification of FBXO25-interacting proteins using an integrated proteomics approach. (PubMed id 20473970)1 Teixeira F.R.... Gomes M.D. (Proteomics 2010)
    32. Puromycin-sensitive aminopeptidase protects against aggregation-prone proteins via autophagy. (PubMed id 20829225)1 Menzies F.M....Rubinsztein D.C. (Hum. Mol. Genet. 2010)
    33. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    34. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (Nature 2010)
    35. Defining the human deubiquitinating enzyme interaction landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (Cell 2009)
    36. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
    37. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1 Meierhofer D.... Kaiser P. (J. Proteome Res. 2008)
    38. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M....Figeys D. (Mol. Syst. Biol. 2007)
    39. Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis. (PubMed id 17110338)1 Wang X....Balch W.E. (Cell 2006)
    40. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    41. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    42. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    43. Puromycin-sensitive alanyl aminopeptidase from human liver cytosol: purification and characterization. (PubMed id 10978616)2 Yamamoto Y.... Nishi K. (Forensic Sci. Int. 2000)
    44. Two new proteases in the MHC class I processing pathway. (PubMed id 11062501)2 Stoltze L.... Schild H. (Nat. Immunol. 2000)
    45. Ontogeny of puromycin-sensitive and insensitive aminopeptidase activities in several subcellular fractions of the rat brain. (PubMed id 10582526)1 de Gandarias J.M....Casis L. (Brain Res. Bull. 1999)
    46. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)
    47. Puromycin-sensitive aminopeptidase. Sequence analysis, expression, and functional characterization. (PubMed id 7592939)1 Constam D.B....Fontana A. (J. Biol. Chem. 1995)
    48. Immunocytochemical comparison of cultured normal epithelial prostatic cells with prostatic tissue sections. (PubMed id 8082751)1 Cussenot O....Le Duc A. (Exp. Cell Res. 1994)
    49. Studies on the tissue distribution of the puromycin-sensitive enkephalin-degrading aminopeptidases. (PubMed id 3171591)1 McLellan S....Hersh L.B. (J. Neurochem. 1988)
    50. Puromycin-sensitive aminopeptidase: an antiviral prodrug activating enzyme. (PubMed id 19969024)9 Tehler U....Amidon G.L. (Antiviral Res. 2010)
    51. A genomic screen for modifiers of tauopathy identifies puromycin-sensitive aminopeptidase as an inhibitor of tau-induced neurodegeneration. (PubMed id 16950154)9 Karsten S.L....Jackson G.R. (Neuron 2006)
    52. Changes in puromycin-sensitive aminopeptidases in postmortem schizophrenic brain regions. (PubMed id 8845744)9 Hui M....Hui K.S. (Neurochem. Int. 1995)
    53. Three-dimensional QSAR of HPPD inhibitors, PSA inhibitors, and anxiolytic agents: effect of tautomerism on the CoMFA models. (PubMed id 17418602)9 Zou J.W....Yu Q.S. (amp 2007)
    54. Fluorescent bioprobes for visualization of puromycin-sensitive aminopeptidase in living cells. (PubMed id 12467622)9 Kakuta H....Hashimoto Y. (amp 2003)
    55. Specific inhibitor of puromycin-sensitive aminopeptidase with a homophthalimide skeleton: identification of the target molecule and a structure-activity relationship study. (PubMed id 11197332)9 Komoda M....Hashimoto Y. (amp 2001)
    56. Degradation of dynorphin-related peptides by the puromycin-sensitive aminopeptidase and aminopeptidase M. (PubMed id 7790884)9 Safavi A. and Hersh L.B. (J. Neurochem. 1995)
    57. Aminopeptidase activity in the postmortem brain of human heroin addicts. (PubMed id 15670637)9 Larrinaga G....Irazusta J. (Neurochem. Int. 2005)
    58. [Preparation of novel specific aminopeptidase inhibitors with a cyclic imide skeleton]. (PubMed id 11082703)9 Takahashi H....Hashimoto Y. (Yakugaku Zasshi 2000)
    59. Brain-specific aminopeptidase: from enkephalinase to protector against neurodegeneration. (PubMed id 17476590)9 Hui K.S. (Neurochem. Res. 2007)
    60. Subcellular distribution of membrane-bound aminopeptidases in the human and rat brain. (PubMed id 15936526)9 Larrinaga G....Gil J. (Neurosci. Lett. 2005)
    61. Revisiting the function of PSA-NCAM in the nervous system. (PubMed id 11831554)9 Durbec P. and Cremer H. (Mol. Neurobiol. 2001)
    62. A novel mammalian high-molecular-weight aminopeptidase. (PubMed id 9244402)9 Erbeznik H. and Hersh L.B. (Arch. Biochem. Biophys. 1997)
    63. Expression of immunoreactive polysialylated neural cell adhesion molecule in the suprachiasmatic nucleus. (PubMed id 8090287)9 Glass J.D....Watanabe M. (Neuroendocrinology 1994)
    64. Altered levels of acid, basic, and neutral peptidase activity and expression in human clear cell renal cell carcinoma. (PubMed id 16985214)9 Varona A....Larrinaga G. (Am. J. Physiol. Renal Physiol. 2007)
    65. Proteasome and peptidase function in MHC-class-I-mediated antigen presentation. (PubMed id 14734113)9 Kloetzel P.M. and Ossendorp F. (Curr. Opin. Immunol. 2004)
    66. A recyclable assay to analyze the NH(2)-terminal trimming of antigenic peptide precursors. (PubMed id 12356466)9 Burri L....LAcvy F. (Protein Expr. Purif. 2002)
    67. Angiogenesis in prostate cancer: its role in disease progression and possible therapeutic approaches. (PubMed id 12431818)9 van Moorselaar R.J. and Voest E.E. (Mol. Cell. Endocrinol. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 9520 HGNC: 7900 AceView: NPEPPS Ensembl:ENSG00000141279 euGenes: HUgn9520
    ECgene: NPEPPS H-InvDB: NPEPPS

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NPEPPS Pharmacogenomics, SNPs, Pathways

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

    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
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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