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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 3.4.11.14 4
  • EC 3.4.11.3 61
  • EC 3.4.11.2 61
  • EC 3.4.11 61
  • 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 Immune System and Class I MHC mediated antigen processing and presentation. 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

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

Genomics for NPEPPS Gene

Regulatory Elements for NPEPPS Gene

Enhancers for NPEPPS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F047692 1.2 FANTOM5 ENCODE 2.4 +172.0 172033 5.2 HDGF PKNOX1 ZFP64 ARID4B SIN3A ZNF48 GLIS2 FOS ZNF263 SP3 TBKBP1 MRPL45P2 ENSG00000264701 RPS7P11 SCRN2 EFCAB13 NPEPPS TBX21 OSBPL7 CDK5RAP3
GH17F048001 1.7 FANTOM5 Ensembl ENCODE 1.2 +480.9 480859 5.2 HDGF ZNF133 SIN3A YBX1 FEZF1 YY1 ZNF121 FOS JUNB REST PRR15L SCRN2 SP2 NFE2L1 PNPO SP2-AS1 RNU6-1201P HOXB4 ENSG00000266601 SNX11
GH17F047700 1.1 FANTOM5 Ensembl ENCODE 1.1 +182.0 182044 9.3 HDGF PKNOX1 ARNT FEZF1 ZNF2 CBX5 ZNF263 MCM3 SP3 SP5 TBKBP1 ENSG00000253347 LRRC37A17P OSBPL7 MRPL45P2 SCRN2 ENSG00000264701 KPNB1 TBX21 EFCAB13
GH17F047519 0.4 Ensembl 0.8 -3.7 -3742 0.4 ZNF316 ATF3 MAFG MAFK EMSY ATF2 NPEPPS MRPL45P2
GH17F047522 0.2 Ensembl 0.8 -0.2 -242 0.2 TBKBP1 NPEPPS MRPL45P2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NPEPPS on UCSC Golden Path with GeneCards custom track

Genomic Location for NPEPPS Gene

Chromosome:
17
Start:
47,522,942 bp from pter
End:
47,623,276 bp from pter
Size:
100,335 bases
Orientation:
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:
    P55786-PSA_HUMAN
    Recommended name:
    Puromycin-sensitive aminopeptidase
    Protein Accession:
    P55786
    Secondary Accessions:
    • B7Z463
    • Q6P145
    • Q9NP16
    • Q9UEM2

    Protein attributes for NPEPPS Gene

    Size:
    919 amino acids
    Molecular mass:
    103276 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

Antibody Products

  • Abcam antibodies for NPEPPS
  • Santa Cruz Biotechnology (SCBT) Antibodies for NPEPPS

Domains & Families for NPEPPS Gene

Gene Families for NPEPPS Gene

Suggested Antigen Peptide Sequences for NPEPPS Gene

Graphical View of Domain Structure for InterPro Entry

P55786

UniProtKB/Swiss-Prot:

PSA_HUMAN :
  • Belongs to the peptidase M1 family.
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

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 IEA,IBA --
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:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for NPEPPS Gene COMPARTMENTS Subcellular localization image for NPEPPS gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 5
mitochondrion 3
nucleus 3
endoplasmic reticulum 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NPEPPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA --
GO:0070062 extracellular exosome 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 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
CHR-2797 Investigational Pharma Target 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:

Inhibitory RNA Products

Flow Cytometry 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: - - - -
SP2:
SP3: -
SP4:

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

Relevant External Links for NPEPPS Gene

GeneLoc Exon Structure for
NPEPPS
ECgene alternative splicing isoforms for
NPEPPS

Expression for NPEPPS Gene

mRNA expression in normal human tissues 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:

NPEPPS

SOURCE GeneReport for Unigene cluster for NPEPPS Gene:

Hs.443837

mRNA Expression by UniProt/SwissProt for NPEPPS Gene:

P55786-PSA_HUMAN
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).
genes like me logo Genes that share expression patterns with NPEPPS: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia NPEPPS 34 35
  • 99.96 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 98 (a)
OneToMany
NPEPPS 34
  • 95.13 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 97 (a)
OneToMany
NPEPPS 34
  • 96.12 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 96 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Npepps 34
  • 92.75 (n)
mouse
(Mus musculus)
Mammalia Npepps 34 16 35
  • 92.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 86 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 88 (a)
OneToMany
NPEPPS 34
  • 84.35 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 91 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia npepps 34
  • 75.73 (n)
zebrafish
(Danio rerio)
Actinopterygii npepps 34 35
  • 75.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta Psa 36 34 35
  • 56.59 (n)
CG11951 36
  • 38 (a)
CG5849 36
  • 28 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005728 34
  • 55.36 (n)
worm
(Caenorhabditis elegans)
Secernentea pam-1 34 35
  • 49.81 (n)
F49E8.3 36
  • 39 (a)
Y67D8C.9 36
  • 35 (a)
T07F10.1 36
  • 30 (a)
R03G8.6 36
  • 29 (a)
R03G8.4 36
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APE2 34 35
  • 47.14 (n)
AAP1 35 37
  • 35 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL127W 34
  • 47.13 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11033g 34
  • 46.52 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons APM1 34
  • 53.28 (n)
rice
(Oryza sativa)
Liliopsida Os02g0218200 34
  • 52.73 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.2808 34
wheat
(Triticum aestivum)
Liliopsida Ta.5246 34
corn
(Zea mays)
Liliopsida Zm.4333 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4553 35
  • 55 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU09228 34
  • 46.93 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ape2 34
  • 46.67 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4583 34
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

ENSEMBL:
Gene Tree for NPEPPS (if available)
TreeFam:
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 Sequence Context AA Info Type
rs10163469 -- 47,610,401(+) ggggg(A/G)ggtaa intron-variant
rs10163518 -- 47,610,347(+) tcaag(A/G)ttcat intron-variant
rs10432035 -- 47,547,547(+) GGGGG(C/G)GTGGT intron-variant
rs10445374 -- 47,585,017(+) AGAGA(C/T)GGGGT intron-variant
rs10579242 -- 47,546,499(+) TGAAA(-/TAAAG)TAAAT 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)

Relevant External Links for NPEPPS Gene

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

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

Disorders for NPEPPS Gene

Relevant External Links for NPEPPS

Human Genome Epidemiology (HuGE) Navigator
NPEPPS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.W. … Hersh L.B. (Biochem. Biophys. Res. Commun. 1999) 2 3 4 22 64
  2. Cloning of the human puromycin-sensitive aminopeptidase and evidence for expression in neurons. (PMID: 9048733) Tobler A.R. … Fontana A. (J. Neurochem. 1997) 2 3 4 22 64
  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 W.O. … Jakob F. (Cytogenet. Cell Genet. 2001) 3 4 22 64
  4. Cobalt chloride-induced downregulation of puromycin-sensitive aminopeptidase suppresses the migration and invasion of PC-3 cells. (PMID: 19494703) Lee S.H. … Kim H.G. (J. Microbiol. Biotechnol. 2009) 3 22 64
  5. Cytosolic aminopeptidases influence MHC class I-mediated antigen presentation in an allele-dependent manner. (PMID: 19917696) Kim E. … Ahn K. (J. Immunol. 2009) 4 22 64

Products for NPEPPS Gene

Sources for NPEPPS Gene

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