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

NPEPPS Gene

protein-coding   GIFtS: 64
GCID: GC17P045608

Aminopeptidase Puromycin Sensitive
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Aliases
for NPEPPS gene

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


Summaries
for NPEPPS gene

(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 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, and among its related super-pathways are Class I MHC mediated antigen processing & presentation and Immune System. GO annotations related to this gene include aminopeptidase activity and metalloendopeptidase 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences 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 plasmid: NPEPPS promoter sequence
   Search SABiosciences Chromatin IP Primers for NPEPPS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 45,600,306 bp from pter      End:
 45,700,642 bp from pter
Size:
 100,337 bases      Orientation:
 plus strand

Proteins
for NPEPPS gene

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

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55786

    • 4/6 DME Specific Peptides for NPEPPS (P55786) (see all 6)
     WLNEGFA  STYLVAF  WFGNLVT  GAMENWG 

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

    NPEPPS Protein Expression
    REFSEQ proteins: NP_006301.3  
    ENSEMBL proteins: 
     ENSP00000437019   ENSP00000433287   ENSP00000433735   ENSP00000434554   ENSP00000320324  
     ENSP00000434585   ENSP00000433649   ENSP00000435639   ENSP00000436733   ENSP00000435966  
     ENSP00000432127   ENSP00000433549   ENSP00000442461  
    Reactome Protein details: P55786
    Human Recombinant Protein Products for NPEPPS: 
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    R&D Systems Recombinant & Natural Proteins for NPEPPS (Puromycin-sensitive aminopeptidase/NPEPPS)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NPEPPS
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for NPEPPS
    GenScript Custom Purified and Recombinant Proteins Services for NPEPPS
    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. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--

    NPEPPS for ontologies           About GeneDecksing



    NPEPPS Antibody Products: 
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    Abcam antibodies for NPEPPS
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    Assay Products for NPEPPS: 
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.

    Protein Domains /
    Families
    for NPEPPS gene

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

    4 InterPro protein domains:
     IPR014782 Peptidase_M1_N
     IPR024571 DUF3358
     IPR015568 Peptidase_M1_puromycin-sens
     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


    Function
    for NPEPPS gene

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

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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  homeostasis/metabolism  immune system 
     integument  mortality/aging  reproductive system 

    NPEPPS for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions 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:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NPEPPS
    8/56 QIAGEN miScript miRNA 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 plasmid: NPEPPS 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NPEPPS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NPEPPS

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of NPEPPS

    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of NPEPPS 

    Cell Line
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for NPEPPS gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NPEPPS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    		Antigen processing: Ubiquitination & Proteasome degradation0.83
    		Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    		Immune System0.56
    		Adaptive Immune System0.56
    3Selected targets of GCR-alpha
    		Selected targets of GCR-alpha

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for NPEPPS
        Selected targets of GCR-alpha


    4        Reactome Pathways for NPEPPS
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System



    NPEPPS for pathways           About GeneDecksing

    Interactions:

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

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

    5/117 Interacting proteins for NPEPPS (P557861, 3 ENSP000003203244) via UniProtKB, MINT, STRING, and/or I2D (see all 117)
    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:0000209protein polyubiquitination TAS--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006508proteolysis IEA--
    GO:0071456cellular response to hypoxia IDA--

    NPEPPS for ontologies           About GeneDecksing



    Drugs & Compounds
    for NPEPPS gene

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

    NPEPPS for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about NPEPPS / PSA

    Transcripts
    for NPEPPS gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NPEPPS gene: 
    NM_006310.3  

    Unigene Cluster for NPEPPS:

    Aminopeptidase puromycin sensitive
    Hs.443837  [show with all ESTs]
    Unigene Representative Sequence: NM_006310
    27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see top 18):
    ENST00000527200 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 ENST00000533538 ENST00000525021 ENST00000529602 ENST00000534807
    ENST00000525048 ENST00000531486(uc002ils.1) ENST00000528565 ENST00000544660

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/56 QIAGEN miScript miRNA 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 plasmid: NPEPPS 3' UTR sequence
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NPEPPS
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    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 

    24/37 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 

    24/558 AceView cDNA sequences (see all 558):

    BM474975 BM678027 BM750492 BU618303 AW249850 AW572592 AL134687 BM676084 
    AW161660 F04707 BQ937998 BP375065 AI201527 AA379056 AU130524 AI922696 
    AA551216 BE467460 AW515849 NM_006310 AA527546 BU159521 AI371747 BG764490 

    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

    Expression
    for NPEPPS gene

    (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

    NPEPPS expression in normal human tissues (normalized intensities)      NPEPPS embryonic expression: see
    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 
     5/18 selected tissues (see all 18) fully expand
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Lung (Respiratory System)
             Trachea
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

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

    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)

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    Orthologs
    for NPEPPS gene

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

    Orthologs for NPEPPS gene from 10/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Npepps1 , 5 aminopeptidase puromycin sensitive1, 5 93.28(n)1
    97.71(a)1    		   11 (60.95 cM)5
    191551  NM_008942.21  NP_032968.21 
     972058425 
    chicken
    (Gallus gallus)    		 Aves NPEPPS1 aminopeptidase puromycin sensitive 84.31(n)
    91.84(a)    		   426231  XM_001234985.2  XP_001234986.2 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 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_167887.21  NP_728618.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea F49E8.33
    pam-11    		 Protein PAM-11 39(a)
    (best of 5)3
    49.84(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
    Ape2p1    		 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 aminopeptidase M1 53.2(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
    for NPEPPS gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NPEPPS gene
    LNPEP2  ENPEP2  ANPEP2  TRHDE2  ERAP12  AQPEP2  ERAP22  
    8 SIMAP similar genes for NPEPPS using alignment to 13 protein entries:     PSA_HUMAN (see all proteins):
    NPEPPSL1    TBC1D3    ANPEP    TRHDE    ENPEP    LNPEP
    ERAP2    ERAP1

    NPEPPS for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for NPEPPS
    PGOHUM00000258041 PGOHUM00000258042


    Genomic Variants
    for NPEPPS gene

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

    10/1709 SNPs in NPEPPS are shown (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 (45600306 - 45700642 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 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

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    Disorders / Diseases
    for NPEPPS gene

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

    13 diseases for NPEPPS:    About MalaCards
    high pressure neurological syndrome    tauopathy    clear cell renal cell carcinoma    renal cell carcinoma
    dementia    alzheimer's disease    pneumonia    prostate cancer
    prostatitis    hypoxia    tuberculosis    squamous cell carcinoma
    neuronitis

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

    NPEPPS for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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

    Publications
    for NPEPPS gene

    (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 NPEPPS gene, integrated from 9 sources (see all 78):
    (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. (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. (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. (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. (2004)
    5. Degradation of tau protein by puromycin-sensitive aminopeptidase in vitro. (PubMed id 17154549)2, 9 Sengupta S....Binder L.I. (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. (1999)
    7. Involvement of puromycin-sensitive aminopeptidase in proteolysis of tau protein in cultured cells, and attenuated proteolysis of fro ntotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) mutant tau. (PubMed id 20377816)1, 9 Yanagi K....Takeda M. (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. (2007)
    9. Cobalt chloride-induced downregulation of puromycin-s ensitive aminopeptidase suppresses the migration and invasion of PC-3 cells. (PubMed id 19494703)1, 9 Lee S.H. and Kim H.G. (2009)
    10. Cytosolic aminopeptidases influence MHC class I-media ted antigen presentation in an allele-dependent manner. (PubMed id 19917696)2, 9 Kim E....Ahn K. (2009)

    External Searches for NPEPPS gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NPEPPS gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9520 HGNC: 7900 AceView: NPEPPS Ensembl:ENSG00000141279 euGenes: HUgn9520
    ECgene: NPEPPS H-InvDB: NPEPPS

    Other Databases showing NPEPPS gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NPEPPS gene

    (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 NPEPPS Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NPEPPS gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



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    About This Section

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