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Aliases for NPEPPS Gene

Aliases for NPEPPS Gene

  • Aminopeptidase Puromycin Sensitive 2 3 5
  • Puromycin-Sensitive Aminopeptidase 2 3
  • Cytosol Alanyl Aminopeptidase 3 4
  • Metalloproteinase MP100 2 3
  • AAP-S 3 4
  • PSA 3 4
  • EC 4
  • EC 56
  • EC 56
  • EC 3.4.11 56
  • MP100 3

External Ids for NPEPPS Gene

Previous GeneCards Identifiers for NPEPPS Gene

  • GC17P035973
  • GC17P048089
  • GC17P045950
  • GC17P046083
  • GC17P042963
  • GC17P045608
  • GC17P041029

Summaries for NPEPPS Gene

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. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include metallopeptidase activity and aminopeptidase activity. An important paralog of this gene is ENPEP.

UniProtKB/Swiss-Prot for NPEPPS Gene

  • 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

Additional gene information for NPEPPS Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPEPPS Gene

Genomics for NPEPPS Gene

GeneHancer (GH) Regulatory Elements for NPEPPS Gene

Promoters and enhancers for NPEPPS Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I047530 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.4 +8.9 8928 2.7 HDGF PKNOX1 ARID4B SIN3A ZNF2 GLIS2 ZNF213 KLF13 SP3 SP5 NPEPPS TBKBP1 GC17P047558
GH17I047692 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 2.4 +172.0 172033 5.2 HDGF PKNOX1 ZFP64 ARID4B SIN3A ZNF48 ETS1 GLIS2 FOS RUNX3 TBKBP1 ENSG00000264701 CDK5RAP3 MRPL45P2 EFCAB13 RPS7P11 SCRN2 KPNB1 ENSG00000266601 LRRC37A17P
GH17I048001 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.2 +480.5 480459 4.4 HDGF ARNT ZNF133 SIN3A YBX1 ZBTB7B IRF4 YY1 ZNF121 ZNF766 PRR15L CALCOCO2 SP2 PNPO SP2-AS1 HOXB4 ENSG00000266601 NFE2L1 CBX1 SNX11
GH17I047700 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.1 +182.0 182044 9.3 HDGF PKNOX1 SMAD1 ARNT SIN3A FEZF1 CBX5 E2F8 ZNF263 MCM3 MRPL45P2 TBKBP1 SP2 EFCAB13 ENSG00000253347 ENSG00000266601 RPS7P11 ENSG00000264701 KPNB1 LRRC37A17P
GH17I047518 Enhancer 0.6 dbSUPER 0.8 -3.3 -3316 1.3 ZBTB21 MAFG ATF2 OSR2 ZSCAN21 ZNF316 ZNF629 CREB1 PRDM10 ATF7 TBKBP1 EFCAB13 NPEPPS MRPL45P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NPEPPS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NPEPPS gene promoter:

Genomic Locations for NPEPPS Gene

Genomic Locations for NPEPPS Gene
100,335 bases
Plus strand

Genomic View for NPEPPS Gene

Genes around NPEPPS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPEPPS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPEPPS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPEPPS Gene

Proteins for NPEPPS Gene

  • Protein details for NPEPPS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Puromycin-sensitive aminopeptidase
    Protein Accession:
    Secondary Accessions:
    • B7Z463
    • Q6P145
    • Q9NP16
    • Q9UEM2

    Protein attributes for NPEPPS Gene

    919 amino acids
    Molecular mass:
    103276 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer.
    • Sequence=AAH65294.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA68964.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NPEPPS Gene


neXtProt entry for NPEPPS Gene

Selected DME Specific Peptides for NPEPPS Gene


Post-translational modifications for NPEPPS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for NPEPPS Gene

Gene Families for NPEPPS Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for NPEPPS Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M1 family.
  • Belongs to the peptidase M1 family.
genes like me logo Genes that share domains with NPEPPS: view

Function for NPEPPS Gene

Molecular function for NPEPPS Gene

GENATLAS Biochemistry:
aminopeptidase puromycin sensitive,expressed in the brain (most abundant aminopeptidase),localized in cortical and cerebellar neurons,putatively contributing to the degradation of enkephalins
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.20 mM for Lys-p-NA {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549}; KM=0.25 mM for Leu-p-NA {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549}; KM=0.27 mM for Ala-p-NA {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549}; KM=0.80 mM for Met-p-NA {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549}; KM=0.47 mM for Pro-p-NA {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549}; KM=0.21 mM for Val-p-NA {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549}; KM=182 uM for Ala-MCA {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549}; KM=189 uM for Met-MCA {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549}; KM=220 uM for Lys-MCA {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549}; KM=91 uM for Leu-MCA {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549}; KM=167 uM for Phe-MCA {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549}; pH dependence: Optimum pH is 7.5. Stable from pH 5.0 to 8.0. {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549}; Temperature dependence: Stable up to 40 degrees Celsius. {ECO:0000269 PubMed:10978616, ECO:0000269 PubMed:17154549};
UniProtKB/Swiss-Prot CatalyticActivity:
Release of an N-terminal amino acid, preferentially alanine, from a wide range of peptides, amides and arylamides.
UniProtKB/Swiss-Prot EnzymeRegulation:
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+).
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for NPEPPS Gene

Phenotypes From GWAS Catalog for NPEPPS Gene

Gene Ontology (GO) - Molecular Function for NPEPPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity EXP 9668046
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IBA,IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with NPEPPS: view
genes like me logo Genes that share phenotypes with NPEPPS: view

Animal Models for NPEPPS Gene

MGI Knock Outs for NPEPPS:

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NPEPPS Gene

Localization for NPEPPS Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPEPPS Gene

Cytoplasm, cytosol. Nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPEPPS gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 4
plasma membrane 3
mitochondrion 3
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NPEPPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA,IDA 19056867
genes like me logo Genes that share ontologies with NPEPPS: view

Pathways & Interactions for NPEPPS Gene

genes like me logo Genes that share pathways with NPEPPS: view

Gene Ontology (GO) - Biological Process for NPEPPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0006508 proteolysis IBA,IEA --
GO:0043171 peptide catabolic process IBA --
GO:0071456 cellular response to hypoxia IDA 21056661
GO:1903955 positive regulation of protein targeting to mitochondrion IMP 24270810
genes like me logo Genes that share ontologies with NPEPPS: view

No data available for SIGNOR curated interactions for NPEPPS Gene

Drugs & Compounds for NPEPPS Gene

(6) Drugs for NPEPPS Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tosedostat Investigational Pharma Target Others 0

(1) Additional Compounds for NPEPPS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NPEPPS: view

Transcripts for NPEPPS Gene

Unigene Clusters for NPEPPS Gene

Aminopeptidase puromycin sensitive:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NPEPPS Gene

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: - - - -
SP3: -

ExUns: 23 ^ 24a · 24b

Relevant External Links for NPEPPS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NPEPPS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NPEPPS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NPEPPS Gene

Protein tissue co-expression partners for NPEPPS Gene

NURSA nuclear receptor signaling pathways regulating expression of NPEPPS Gene:


SOURCE GeneReport for Unigene cluster for NPEPPS Gene:


mRNA Expression by UniProt/SwissProt for NPEPPS Gene:

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).

Evidence on tissue expression from TISSUES for NPEPPS Gene

  • Nervous system(5)
  • Lung(4.6)
  • Liver(4.5)
  • Muscle(4.4)
  • Kidney(3.4)
  • Heart(2.8)
  • Intestine(2.7)
  • Blood(2.6)
  • Eye(2.5)
  • Skin(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with NPEPPS: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NPEPPS Gene

Orthologs for NPEPPS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NPEPPS Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NPEPPS 33 34
  • 99.96 (n)
(Bos Taurus)
Mammalia -- 34
  • 98 (a)
  • 95.13 (n)
(Canis familiaris)
Mammalia -- 34
  • 97 (a)
  • 96.12 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 96 (a)
(Rattus norvegicus)
Mammalia Npepps 33
  • 92.75 (n)
(Mus musculus)
Mammalia Npepps 33 16 34
  • 92.71 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
(Gallus gallus)
Aves -- 34
  • 88 (a)
  • 84.35 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia npepps 33
  • 75.73 (n)
(Danio rerio)
Actinopterygii npepps 33 34
  • 75.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta Psa 35 33 34
  • 56.59 (n)
CG11951 35
  • 38 (a)
CG5849 35
  • 28 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005728 33
  • 55.36 (n)
(Caenorhabditis elegans)
Secernentea pam-1 33 34
  • 49.81 (n)
F49E8.3 35
  • 39 (a)
Y67D8C.9 35
  • 35 (a)
T07F10.1 35
  • 30 (a)
R03G8.6 35
  • 29 (a)
R03G8.4 35
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APE2 33 34
  • 47.14 (n)
AAP1 34 36
  • 35 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL127W 33
  • 47.13 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11033g 33
  • 46.52 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons APM1 33
  • 53.28 (n)
(Oryza sativa)
Liliopsida Os02g0218200 33
  • 52.73 (n)
(Hordeum vulgare)
Liliopsida Hv.2808 33
(Triticum aestivum)
Liliopsida Ta.5246 33
(Zea mays)
Liliopsida Zm.4333 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4553 34
  • 55 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09228 33
  • 46.93 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ape2 33
  • 46.67 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4583 33
Species where no ortholog for NPEPPS was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NPEPPS Gene

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

Paralogs for NPEPPS Gene

Variants for NPEPPS Gene

Sequence variations from dbSNP and Humsavar for NPEPPS Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000008167 -- 47,607,161(+) C/T intron_variant
rs1000013668 -- 47,599,684(+) T/C coding_sequence_variant, synonymous_variant
rs1000087408 -- 47,616,531(+) A/G intron_variant
rs1000096907 -- 47,556,741(+) T/C intron_variant
rs1000163592 -- 47,543,213(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NPEPPS Gene

Variant ID Type Subtype PubMed ID
dgv1775e59 CNV duplication 20981092
esv26181 CNV gain+loss 19812545
esv2675559 CNV deletion 23128226
esv2716010 CNV deletion 23290073
esv2758693 CNV gain+loss 17122850
esv3346004 CNV duplication 20981092
esv3353507 CNV duplication 20981092
esv33689 CNV loss 17666407
esv3376148 CNV duplication 20981092
esv3379610 CNV duplication 20981092
esv3393028 CNV duplication 20981092
esv3401092 CNV duplication 20981092
esv3554495 CNV deletion 23714750
esv995713 CNV gain 20482838
nsv1123135 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv428344 CNV gain 18775914
nsv469573 CNV gain 16826518
nsv471403 CNV gain 19718026
nsv471513 CNV gain 19718026
nsv471701 CNV gain 15918152
nsv482203 CNV gain 20164927
nsv514851 CNV gain 21397061
nsv516872 CNV gain+loss 19592680
nsv525267 CNV gain 19592680
nsv575463 CNV loss 21841781
nsv575464 CNV loss 21841781
nsv575465 CNV loss 21841781
nsv821341 CNV duplication 20802225
nsv821688 CNV gain 15273396
nsv828033 CNV gain 20364138
nsv828034 CNV gain 20364138
nsv833468 CNV gain 17160897
nsv9568 CNV gain+loss 18304495
nsv962334 CNV duplication 23825009
nsv962335 CNV duplication 23825009
nsv978434 CNV duplication 23825009

Variation tolerance for NPEPPS Gene

Residual Variation Intolerance Score: 47.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.42; 27.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPEPPS Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPEPPS Gene

Disorders for NPEPPS Gene

Additional Disease Information for NPEPPS

No disorders were found for NPEPPS Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NPEPPS Gene

Publications for NPEPPS Gene

  1. Cloning and analysis of the gene for the human puromycin-sensitive aminopeptidase. (PMID: 10329370) Thompson MW … Hersh LB (Biochemical and biophysical research communications 1999) 2 3 4 22 58
  2. Cloning of the human puromycin-sensitive aminopeptidase and evidence for expression in neurons. (PMID: 9048733) Tobler AR … Fontana A (Journal of neurochemistry 1997) 2 3 4 22 58
  3. Human puromycin-sensitive aminopeptidase: cloning of 3' UTR, evidence for a polymorphism at a.a. 140 and refined chromosomal localization to 17q21. (PMID: 11435692) Bauer WO … Jakob F (Cytogenetics and cell genetics 2001) 3 4 22 58
  4. 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. (PMID: 20377816) Yanagi K … Takeda M (Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society 2009) 3 22 58
  5. Cobalt chloride-induced downregulation of puromycin-sensitive aminopeptidase suppresses the migration and invasion of PC-3 cells. (PMID: 19494703) Lee SH … Kim HG (Journal of microbiology and biotechnology 2009) 3 22 58

Products for NPEPPS Gene

Sources for NPEPPS Gene

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