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    NPEPPS aminopeptidase puromycin sensitive [ Homo sapiens (human) ]

    Gene ID: 9520, updated on 18-Nov-2024

    Summary

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    Official Symbol
    NPEPPSprovided by HGNC
    Official Full Name
    aminopeptidase puromycin sensitiveprovided by HGNC
    Primary source
    HGNC:HGNC:7900
    See related
    Ensembl:ENSG00000141279 MIM:606793; AllianceGenome:HGNC:7900
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PSA; AAP-S; MP100
    Summary
    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]
    Expression
    Ubiquitous expression in esophagus (RPKM 43.2), brain (RPKM 28.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NPEPPS in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (47522933..47623276)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48385617..48485055)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45600299..45700642)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene EF-hand calcium binding domain 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8626 Neighboring gene nuclear factor, erythroid 2 like 3 pseudogene 2 Neighboring gene mitochondrial ribosomal protein L45 pseudogene 2 Neighboring gene MPRA-validated peak2874 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45569915-45570430 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:45579384-45580583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45598943-45599444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8629 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:45614024-45614225 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:45643631-45644132 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:45644133-45644632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45693347-45693848 Neighboring gene KPNB1 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45725440-45726285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12314 Neighboring gene karyopherin subunit beta 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:45771282-45771962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45771963-45772642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45772643-45773323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8638 Neighboring gene TBK1 binding protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Studies on the tissue distribution of the puromycin-sensitive enkephalin-degrading aminopeptidases. McLellan S, et al. J Neurochem, 1988 Nov. PMID 3171591
    2. Immunocytochemical comparison of cultured normal epithelial prostatic cells with prostatic tissue sections. Cussenot O, et al. Exp Cell Res, 1994 Sep. PMID 8082751
    3. Cloning of the human puromycin-sensitive aminopeptidase and evidence for expression in neurons. Tobler AR, et al. J Neurochem, 1997 Mar. PMID 9048733
    4. No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Goris A, et al. Hum Mol Genet, 2014 Apr 1. PMID 24234648, Free PMC Article
    5. Cloning and analysis of the gene for the human puromycin-sensitive aminopeptidase. Thompson MW, et al. Biochem Biophys Res Commun, 1999 May 10. PMID 10329370

    See all (145) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PSA controls hepatic lipid metabolism by regulating the NRF2 signaling pathway.
      Title: PSA controls hepatic lipid metabolism by regulating the NRF2 signaling pathway.
    2. Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci Regarding Associated Variants across Whites and Han Chinese.
      Title: Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci Regarding Associated Variants across Whites and Han Chinese.
    3. cytosolic peptidases(puromycin-sensitive aminopeptidase (PSA), aminopeptidase B (APB) and pyroglutamyl-peptidase I (PGI) ) may be involved in colorectal carcinogenesis
      Title: Altered Activity and Expression of Cytosolic Peptidases in Colorectal Cancer.
    4. Studies indicate the critical role of M1 aminopeptidases ERAP1, ERAP2 and NPEPPS in immune-mediated diseases.
      Title: Genetic associations and functional characterization of M1 aminopeptidases and immune-mediated diseases.
    5. MiR-614 inhibited cell invasion and proliferationa targeting PSA in lung cancer cells, PGCL3
      Title: [MiR-614 inhibited lung cancer cell invasion and proliferation via targeting PSA].
    6. Elevation of NPEPPS activity blocks accumulation of hyperphosphorylated TAU protein and slows down the progression of Alzheimer's disease.
      Title: Puromycin-sensitive aminopeptidase (PSA/NPEPPS) impedes development of neuropathology in hPSA/TAU(P301L) double-transgenic mice.
    7. findings show that by promoting autophagic protein clearance, PSA helps protect against accumulation of aggregation-prone proteins and proteotoxicity
      Title: Puromycin-sensitive aminopeptidase protects against aggregation-prone proteins via autophagy.
    8. attenuated proteolysis of FTDP-17 mutant tau may be explained by increased phosphorylation levels, resulting in resistance to proteolysis.
      Title: 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.
    9. PSA gene was downregulated in PC-3 cells that were treated with CoCl(2). PSA is involved in the proliferation, migration, and invasion of PC-3 cells, which are important determinants of metastasis, via a mechanism that involves MMP-9 modulation.
      Title: Cobalt chloride-induced downregulation of puromycin-sensitive aminopeptidase suppresses the migration and invasion of PC-3 cells.
    10. ApPS Y394F exhibited a 3.3-fold lower affinity for RB-3014, a transition state inhibitor, indicating that Tyr394 is involved in transition state stabilization
      Title: Analysis of conserved residues of the human puromycin-sensitive aminopeptidase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    EBI GWAS Catalog
    No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human aminopeptidase puromycin sensitive (NPEPPS) at amino acid residues 677-678 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aminopeptidase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables aminopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables metalloaminopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein targeting to mitochondrion HMP PubMed 
    involved_in protein polyubiquitination TAS
    Traceable Author Statement
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    puromycin-sensitive aminopeptidase
    Names
    cytosol alanyl aminopeptidase
    metalloproteinase MP100
    NP_001317186.1
    NP_001398059.1
    NP_006301.3
    XP_016880862.1
    XP_047293063.1
    XP_047293064.1
    XP_054173849.1
    XP_054173850.1
    XP_054173851.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330257.2 → NP_001317186.1  puromycin-sensitive aminopeptidase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC025682, AJ132583, AK303037, AW662871
      Consensus CDS
      CCDS82149.1
      UniProtKB/TrEMBL
      B7Z899, E9PLK3
      Related
      ENSP00000433287.1, ENST00000530173.6
      Conserved Domains (3) summary
      cd09601
      Location:57 → 500
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:49 → 437
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:575 → 886
      ERAP1_C; ERAP1-like C-terminal domain

    2. NM_001411130.1 → NP_001398059.1  puromycin-sensitive aminopeptidase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC025682
      Consensus CDS
      CCDS92355.1
      UniProtKB/TrEMBL
      A0A7I2V3W8
      Related
      ENSP00000503738.1, ENST00000677370.1

    3. NM_006310.4 → NP_006301.3  puromycin-sensitive aminopeptidase isoform 1

      See identical proteins and their annotated locations for NP_006301.3

      Status: REVIEWED

      Source sequence(s)
      AJ132583, BC065294, BM723238, DB476543
      Consensus CDS
      CCDS45721.1
      UniProtKB/Swiss-Prot
      B7Z463, P55786, Q6P145, Q9NP16, Q9UEM2
      UniProtKB/TrEMBL
      B7Z899
      Related
      ENSP00000320324.4, ENST00000322157.9
      Conserved Domains (2) summary
      cd09601
      Location:61 → 499
      M1_APN-Q_like; Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1)
      pfam11838
      Location:578 → 891
      ERAP1_C; ERAP1-like C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      47522933..47623276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025373.1 → XP_016880862.1  puromycin-sensitive aminopeptidase isoform X2

      UniProtKB/TrEMBL
      B7Z899

    2. XM_047437107.1 → XP_047293063.1  puromycin-sensitive aminopeptidase isoform X3

      Related
      ENST00000700499.1

    3. XM_047437108.1 → XP_047293064.1  puromycin-sensitive aminopeptidase isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      48385617..48485055
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317874.1 → XP_054173849.1  puromycin-sensitive aminopeptidase isoform X4

      UniProtKB/TrEMBL
      A0A7I2V389

    2. XM_054317875.1 → XP_054173850.1  puromycin-sensitive aminopeptidase isoform X5

    3. XM_054317876.1 → XP_054173851.1  puromycin-sensitive aminopeptidase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55786.2 GenPept UniProtKB/Swiss-Prot:P55786

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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