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    NPEPPS aminopeptidase puromycin sensitive [ Homo sapiens (human) ]

    Gene ID: 9520, updated on 15-Jun-2019

    Summary

    Official Symbol
    NPEPPSprovided by HGNC
    Official Full Name
    aminopeptidase puromycin sensitiveprovided by HGNC
    Primary source
    HGNC:HGNC:7900
    See related
    Ensembl:ENSG00000141279 MIM:606793
    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

    Genomic context

    See NPEPPS in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (47522950..47623276)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45600316..45700642)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene EF-hand calcium binding domain 13 Neighboring gene nuclear factor, erythroid 2 like 3 pseudogene 2 Neighboring gene mitochondrial ribosomal protein L45 pseudogene 2 Neighboring gene uncharacterized LOC112268184 Neighboring gene karyopherin subunit beta 1 Neighboring gene TBK1 binding protein 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    puromycin-sensitive aminopeptidase
    Names
    cytosol alanyl aminopeptidase
    metalloproteinase MP100
    NP_001317186.1
    NP_006301.3
    XP_016880861.1
    XP_016880862.1
    XP_024306806.1
    XP_024306807.1

    NCBI Reference Sequences (RefSeq)

    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_001330257.2NP_001317186.1  puromycin-sensitive aminopeptidase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC025682, AJ132583, AK303037, AW662871
      Consensus CDS
      CCDS82149.1
      UniProtKB/Swiss-Prot
      P55786
      UniProtKB/TrEMBL
      B7Z899, E9PLK3
      Related
      ENSP00000433287.1, ENST00000530173.5
      Conserved Domains (3) summary
      cd09601
      Location:57500
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:49437
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:575886
      ERAP1_C; ERAP1-like C-terminal domain
    2. NM_006310.4NP_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
      P55786
      Related
      ENSP00000320324.4, ENST00000322157.9
      Conserved Domains (2) summary
      cd09601
      Location:61504
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam11838
      Location:578891
      ERAP1_C; ERAP1-like C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

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

    2. XM_024451039.1XP_024306807.1  puromycin-sensitive aminopeptidase isoform X3

      Conserved Domains (2) summary
      COG0308
      Location:1588
      PepN; Aminopeptidase N [Amino acid transport and metabolism]
      cl14813
      Location:1187
      GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
    3. XM_024451038.1XP_024306806.1  puromycin-sensitive aminopeptidase isoform X3

      Conserved Domains (2) summary
      COG0308
      Location:1588
      PepN; Aminopeptidase N [Amino acid transport and metabolism]
      cl14813
      Location:1187
      GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
    4. XM_017025372.2XP_016880861.1  puromycin-sensitive aminopeptidase isoform X1

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