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. [provi... See more...

Aliases for NPEPPS Gene

Aliases for NPEPPS Gene

  • Aminopeptidase Puromycin Sensitive 2 3 5
  • Puromycin-Sensitive Aminopeptidase 2 3 4
  • PSA 2 3 4
  • Cytosol Alanyl Aminopeptidase 3 4
  • Metalloproteinase MP100 2 3
  • AAP-S 3 4
  • MP100 2 3
  • EC 3.4.11.14 4
  • EC 3.4.11.3 50
  • EC 3.4.11.2 50
  • EC 3.4.11 50
  • NPEPPS 5

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 Frontotemporal Dementia and Alzheimer Disease. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. 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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPEPPS Gene

Genomics for NPEPPS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NPEPPS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPEPPS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPEPPS

Top Transcription factor binding sites by QIAGEN in the NPEPPS gene promoter:
  • aMEF-2
  • Egr-4
  • FOXL1
  • GATA-1
  • Hlf
  • MEF-2A
  • Meis-1b
  • Msx-1
  • Pax-5
  • Sp1

Genomic Locations for NPEPPS Gene

Latest Assembly
chr17:47,522,933-47,624,665
(GRCh38/hg38)
Size:
101,733 bases
Orientation:
Plus strand

Previous Assembly
chr17:45,600,299-45,700,642
(GRCh37/hg19 by Entrez Gene)
Size:
100,344 bases
Orientation:
Plus strand

chr17:45,600,308-45,700,642
(GRCh37/hg19 by Ensembl)
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA68964.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NPEPPS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPEPPS Gene

Selected DME Specific Peptides for NPEPPS Gene

P55786:
  • GAMENWG
  • STYLVAF
  • WFGNLVT
  • HELAHQWFG
  • WLNEGFA
  • KGASVIRM

Post-translational modifications for NPEPPS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for NPEPPS Gene

Gene Families for NPEPPS Gene

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

Protein Domains for NPEPPS Gene

InterPro:
Blocks:
  • Membrane alanyl dipeptidase (M1) family signature

Suggested Antigen Peptide Sequences for NPEPPS Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53354, highly similar to Puromycin-sensitive aminopeptidase (EC 3.4.11.-) (B7Z463_HUMAN)
  • Cytosol alanyl aminopeptidase (PSA_HUMAN)

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Release of an N-terminal amino acid, preferentially alanine, from a wide range of peptides, amides and arylamides.; EC=3.4.11.14;.
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 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+).
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

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 IDA,TAS 10329370
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA,IBA 21873635
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPEPPS

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
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
cytosol 5
extracellular 4
nucleus 4
plasma membrane 3
mitochondrion 3
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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 21873635
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 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,IBA 21873635
GO:0043171 peptide catabolic process IBA 21873635
GO:0071456 cellular response to hypoxia IDA 21056661
GO:1903955 positive regulation of protein targeting to mitochondrion HMP 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydroartemisinin Approved, Experimental, Investigational Pharma Target, ligand 123
Tosedostat Investigational Pharma Target Others 11

(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

mRNA/cDNA for NPEPPS Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
36 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPEPPS

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

Expression for NPEPPS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for NPEPPS Gene



Protein tissue co-expression partners for NPEPPS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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).

Evidence on tissue expression from TISSUES for NPEPPS Gene

  • Nervous system(5)
  • Lung(4.7)
  • Liver(4.5)
  • Muscle(4.4)
  • Kidney(3.3)
  • Heart(2.8)
  • Eye(2.8)
  • Skin(2.7)
  • Blood(2.7)
  • Intestine(2.6)
  • Adrenal gland(2.4)
genes like me logo Genes that share expression patterns with NPEPPS: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia NPEPPS 29 30
  • 99.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 30
  • 98 (a)
OneToMany
NPEPPS 29
  • 95.13 (n)
Dog
(Canis familiaris)
Mammalia -- 30
  • 97 (a)
OneToMany
NPEPPS 29
  • 96.12 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 96 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Npepps 29
  • 92.75 (n)
Mouse
(Mus musculus)
Mammalia Npepps 29 16 30
  • 92.71 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 86 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 88 (a)
OneToMany
NPEPPS 29
  • 84.35 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 91 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia npepps 29
  • 75.73 (n)
Zebrafish
(Danio rerio)
Actinopterygii npepps 29 30
  • 75.74 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Psa 29 30 31
  • 56.59 (n)
OneToMany
CG11951 31
  • 38 (a)
CG5849 31
  • 28 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005728 29
  • 55.36 (n)
Worm
(Caenorhabditis elegans)
Secernentea pam-1 29 30
  • 49.81 (n)
OneToMany
F49E8.3 31
  • 39 (a)
Y67D8C.9 31
  • 35 (a)
T07F10.1 31
  • 30 (a)
R03G8.6 31
  • 29 (a)
R03G8.4 31
  • 28 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APE2 29 30
  • 47.14 (n)
ManyToMany
AAP1 30 32
  • 35 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAL127W 29
  • 47.13 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11033g 29
  • 46.52 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons APM1 29
  • 53.28 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0218200 29
  • 52.73 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.2808 29
Wheat
(Triticum aestivum)
Liliopsida Ta.5246 29
Corn
(Zea mays)
Liliopsida Zm.4333 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4553 30
  • 55 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU09228 29
  • 46.93 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ape2 29
  • 46.67 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4583 29
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)
Aminode:
Evolutionary constrained regions (ECRs) for NPEPPS: view image
Alliance of Genome Resources:
Additional Orthologs for NPEPPS

Paralogs for NPEPPS Gene

Paralogs for NPEPPS Gene

(8) SIMAP similar genes for NPEPPS Gene using alignment to 13 proteins:

  • PSA_HUMAN
  • B7Z463_HUMAN
  • E9PI82_HUMAN
  • E9PJ74_HUMAN
  • E9PJF9_HUMAN
  • E9PJY4_HUMAN
  • E9PLK3_HUMAN
  • E9PP11_HUMAN
  • E9PPD4_HUMAN
  • E9PPZ2_HUMAN
  • E9PRQ5_HUMAN
  • H0YCQ5_HUMAN
  • H0YDG0_HUMAN
genes like me logo Genes that share paralogs with NPEPPS: view

Variants for NPEPPS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPEPPS Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs145082307 Benign: not provided 47,613,665(+) G/T
NM_006310.4(NPEPPS):c.2239-4G>T
INTRON
rs145829042 Benign: not provided 47,587,320(+) A/G
NM_006310.4(NPEPPS):c.1071A>G (p.Gln357=)
SYNONYMOUS
rs200065879 Benign: not provided 47,531,418(+) C/T
NM_006310.4(NPEPPS):c.118C>T (p.Leu40=)
SYNONYMOUS
rs200948229 Benign: not provided 47,590,709(+) G/C
NM_006310.4(NPEPPS):c.1096-8G>C
INTRON
rs201212390 Likely Benign: not provided 47,531,519(+) C/T
NM_006310.4(NPEPPS):c.219C>T (p.Asp73=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NPEPPS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
NPEPPS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPEPPS
Leiden Open Variation Database (LOVD)
NPEPPS

SNP Genotyping and Copy Number Assays for research

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: COP and GCD

Disorder Aliases PubMed IDs
frontotemporal dementia
  • ftd
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NPEPPS

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 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
  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
  3. Degradation of tau protein by puromycin-sensitive aminopeptidase in vitro. (PMID: 17154549) Sengupta S … Binder LI (Biochemistry 2006) 3 4 22
  4. 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
  5. 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

Products for NPEPPS Gene

Sources for NPEPPS Gene