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Aliases for NPEPPS Gene

Aliases for NPEPPS Gene

  • Aminopeptidase Puromycin Sensitive 2 3 5
  • Cytosol Alanyl Aminopeptidase 3 4
  • Metalloproteinase MP100 2 3
  • AAP-S 3 4
  • PSA 3 4
  • Puromycin-Sensitive Aminopeptidase 2
  • EC 3.4.11.14 4
  • EC 3.4.11.3 63
  • EC 3.4.11.2 63
  • EC 3.4.11 63
  • 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. Diseases associated with NPEPPS include high pressure neurological syndrome and tauopathy. Among its related pathways are Immune System and Antigen processing- Ubiquitination and Proteasome degradation. 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

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

Proteomics data for NPEPPS Gene at MOPED

Selected DME Specific Peptides for NPEPPS Gene

Post-translational modifications for NPEPPS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for NPEPPS Gene

Gene Families for NPEPPS Gene

Protein Domains 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,IEA 9668046
GO:0008237 metallopeptidase 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

CRISPR 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: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 --
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: Novoseek and DrugBank

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:

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, MOPED, and MaxQB for NPEPPS Gene



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

Protein tissue co-expression partners for NPEPPS Gene

Primer Products

In Situ Assay 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 36
  • 100 (a)
OneToOne
NPEPPS 35
  • 99.96 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 98 (a)
OneToMany
NPEPPS 35
  • 95.13 (n)
  • 97.71 (a)
dog
(Canis familiaris)
Mammalia NPEPPS 35
  • 96.12 (n)
  • 99.16 (a)
-- 36
  • 97 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Npepps 16
Npepps 36
  • 98 (a)
OneToMany
Npepps 35
  • 92.71 (n)
  • 96.84 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 96 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Npepps 35
  • 92.75 (n)
  • 97.17 (a)
chicken
(Gallus gallus)
Aves NPEPPS 35
  • 84.35 (n)
  • 91.96 (a)
-- 36
  • 88 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 91 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia npepps 35
  • 75.73 (n)
  • 87.66 (a)
zebrafish
(Danio rerio)
Actinopterygii npepps 36
  • 81 (a)
OneToMany
npepps 35
  • 75.74 (n)
  • 85.19 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005728 35
  • 55.36 (n)
  • 56.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta Psa 35
  • 56.59 (n)
  • 56.98 (a)
Psa 36
  • 46 (a)
OneToMany
CG11951 37
  • 38 (a)
CG5849 37
  • 28 (a)
Psa 37
  • 56 (a)
worm
(Caenorhabditis elegans)
Secernentea pam-1 35
  • 49.81 (n)
  • 39.84 (a)
F49E8.3 37
  • 39 (a)
R03G8.4 37
  • 28 (a)
R03G8.6 37
  • 29 (a)
T07F10.1 37
  • 30 (a)
Y67D8C.9 37
  • 35 (a)
pam-1 36
  • 36 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL127W 35
  • 47.13 (n)
  • 38.05 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APE2 35
  • 47.14 (n)
  • 36.75 (a)
AAP1 36
  • 35 (a)
ManyToMany
APE2 36
  • 32 (a)
ManyToMany
AAP1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11033g 35
  • 46.52 (n)
  • 36.21 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons APM1 35
  • 53.28 (n)
  • 47.4 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.2808 35
corn
(Zea mays)
Liliopsida Zm.4333 35
rice
(Oryza sativa)
Liliopsida Os02g0218200 35
  • 52.73 (n)
  • 45.54 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.5246 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09228 35
  • 46.93 (n)
  • 37.02 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ape2 35
  • 46.67 (n)
  • 37.87 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4583 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4553 36
  • 55 (a)
OneToMany
Species with no ortholog for NPEPPS:
  • 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

Paralogs for NPEPPS Gene

Pseudogenes.org Pseudogenes for NPEPPS Gene

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

Variants for NPEPPS Gene

Sequence variations from dbSNP and Humsavar for NPEPPS Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1809279 -- 47,586,383(-) CAAGG(C/T)CCCAG reference, missense
rs2125875 -- 47,583,475(+) cccaa(C/G)tagct intron-variant
rs1876800 -- 47,562,764(-) TTTTT(A/T)AAATT intron-variant
rs2169142 -- 47,574,576(-) aagga(C/T)taaat intron-variant
rs2258333 -- 47,551,701(-) GTGGG(C/T)GTCAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv516872 CNV Gain+Loss 19592680
nsv525267 CNV Gain 19592680
nsv833468 CNV Gain 17160897
nsv469573 CNV Gain 16826518
nsv471701 CNV Gain 15918152
dgv987e1 CNV Complex 17122850
nsv428344 CNV Gain 18775914
esv33689 CNV Loss 17666407
nsv471513 CNV Duplication 19718026
essv3532 CNV CNV 17122850
nsv908570 CNV Gain 21882294
nsv471403 CNV Duplication 19718026
nsv482203 CNV Gain 20164927
nsv821341 CNV Duplication 20802225
nsv828033 CNV Gain 20364138
nsv9568 CNV Gain+Loss 18304495
esv26181 CNV Gain+Loss 19812545
nsv514851 CNV Complex 21397061
nsv821688 CNV Gain 15273396
esv995713 CNV Gain 20482838
esv2716010 CNV Deletion 23290073
esv2675559 CNV Deletion 23128226
nsv828034 CNV Gain 20364138

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

HapMap Linkage Disequilibrium report
NPEPPS
Human Gene Mutation Database (HGMD)
NPEPPS

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

Disorders for NPEPPS Gene

MalaCards: The human disease database

(2) MalaCards diseases for NPEPPS Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
high pressure neurological syndrome
tauopathy
  • tauopathies
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NPEPPS

Human Genome Epidemiology (HuGE) Navigator
NPEPPS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPEPPS
genes like me logo Genes that share disorders with NPEPPS: view

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

Publications for NPEPPS Gene

  1. 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 23 67
  2. 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 23
  3. 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 23
  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 2009) 3 23
  5. Analysis of conserved residues of the human puromycin-sensitive aminopeptidase. (PMID: 14706550) Thompson M.W. … Hersh L.B. (Peptides 2003) 3 23

Products for NPEPPS Gene

Sources for NPEPPS Gene

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