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NPEPPS aminopeptidase puromycin sensitive [ Homo sapiens (human) ]

Gene ID: 9520, updated on 7-Apr-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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Location:
17q21.32
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (47522933..47623276)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48385617..48485055)
105.20220307 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. 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
  2. Analysis of conserved residues of the human puromycin-sensitive aminopeptidase. Thompson MW, et al. Peptides, 2003 Sep. PMID 14706550
  3. Human puromycin-sensitive aminopeptidase: cloning of 3' UTR, evidence for a polymorphism at a.a. 140 and refined chromosomal localization to 17q21. Bauer WO, et al. Cytogenet Cell Genet, 2001. PMID 11435692
  4. Ontogeny of puromycin-sensitive and insensitive aminopeptidase activities in several subcellular fractions of the rat brain. de Gandarias JM, et al. Brain Res Bull, 1999 Nov 1. PMID 10582526
  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 (131) 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)

Genotypes

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 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
  
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_2023_10

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

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