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NPEPPS aminopeptidase puromycin sensitive [ Homo sapiens (human) ]

Gene ID: 9520, updated on 1-Aug-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (47522933..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 Functions

What'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

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 109.20200522

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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