NPEPPS aminopeptidase puromycin sensitive [Homo sapiens (human)] - Gene

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; 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

Location:: 17q21.32

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (47522933..47623276)
110	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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PSA controls hepatic lipid metabolism by regulating the NRF2 signaling pathway.
Title: PSA controls hepatic lipid metabolism by regulating the NRF2 signaling pathway.
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.
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.
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.
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].
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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D17S1720 (e-PCR)
- UniSTS:153906

A005V04 (e-PCR)
- UniSTS:24423

SGC44582 (e-PCR)
- UniSTS:67202

Psa (e-PCR), detects polymorphism
- UniSTS:144270

G32293 (e-PCR)
- UniSTS:116889

SHGC-110413 (e-PCR)
- UniSTS:167849

D17S626 (e-PCR)
- UniSTS:147114

L18441 (e-PCR)
- UniSTS:71348

RH80425 (e-PCR)
- UniSTS:90807

RH46221 (e-PCR)
- UniSTS:1770

RH48280 (e-PCR)
- UniSTS:57584

Homology

Homologs of the NPEPPS gene: The NPEPPS gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 288 organisms have orthologs with human gene NPEPPS
Orthologs

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	PubMed
enables peptide binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed

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	PubMed
involved_in positive regulation of protein targeting to mitochondrion	HMP more info	PubMed
involved_in protein polyubiquitination	TAS Traceable Author Statement more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor 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 more info	PubMed
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

EC 3.4.11.14

NP_006301.3

EC 3.4.11.14

XP_016880861.1

EC 3.4.11.14

XP_016880862.1

EC 3.4.11.14

XP_047293063.1

EC 3.4.11.14

XP_047293064.1

EC 3.4.11.14

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)

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/Swiss-Prot

P55786

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

Status: REVIEWED

Source sequence(s)

AC025682

Consensus CDS

CCDS92355.1

UniProtKB/TrEMBL

A0A7I2V3W8
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

P55786, Q9UEM2

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