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NPEPPS Gene

protein-coding GIFtS: 65
GCID: GC17P045608

Aminopeptidase Puromycin Sensitive

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Aminopeptidase Puromycin Sensitive¹ ²		MP100² ⁵
PSA² ³ ⁵		EC 3.4.11.14³
Metalloproteinase MP100¹ ²		EC 3.4.11⁸
Puromycin-Sensitive Aminopeptidase¹ ²		EC 3.4.11.2⁸
Cytosol Alanyl Aminopeptidase² ³		EC 3.4.11.3⁸
AAP-S² ³

External Ids:	HGNC: 7900¹	Entrez Gene: 9520²	Ensembl: ENSG00000141279⁷	OMIM: 606793⁵	UniProtKB: P55786³

Export aliases for NPEPPS gene to outside databases

Previous GC identifers: GC17P035973 GC17P048089 GC17P045950 GC17P046083 GC17P042963 GC17P041029

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NPEPPS Gene:

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)

GeneCards Summary for NPEPPS Gene:

NPEPPS (aminopeptidase puromycin sensitive) is a protein-coding gene. Diseases associated with NPEPPS include high pressure neurological syndrome, and tauopathy. GO annotations related to this gene include metallopeptidase activity and aminopeptidase activity. An important paralog of this gene is LNPEP.

UniProtKB/Swiss-Prot: PSA_HUMAN, P55786

Function: Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events

essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the

antigen-processing pathway for MHC class I molecules. Involved in the N-terminal trimming of cytotoxic T-cell

epitope precursors. Digests the poly-Q peptides found in many cellular proteins. Digests tau from normal brain

more efficiently than tau from Alzheimer disease brain

Gene Wiki entry for NPEPPS Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000017.11 NT_010783.16 NC_018928.2

Regulatory elements:

Regulatory transcription factor binding sites in the NPEPPS gene promoter:
Sp1 Pax-5 Meis-1b FOXL1 Egr-4 GATA-1 MEF-2A Msx-1 aMEF-2 Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NPEPPS promoter sequence

Search Chromatin IP Primers for NPEPPS

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPEPPS

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q21.32 HGNC cytogenetic band: 17q12-q21

NPEPPS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPEPPS gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P045608: view genomic region (about GC identifiers)

Start:	45,600,308 bp from pter	End:	45,700,642 bp from pter
Size:	100,335 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PSA_HUMAN, P55786 (See protein sequence)

Recommended Name: Puromycin-sensitive aminopeptidase

Size: 919 amino acids; 103276 Da

Cofactor: Binds 1 zinc ion per subunit (By similarity)

Subunit: Monomer

Caution: It is uncertain whether Met-1 or Met-45 is the initiator. N-terminal sequencing in PubMed:10978616

suggests that Met-45 is used, followed by methionine initiator removal

Sequence caution: Sequence=AAH65294.2; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=CAA68964.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: Q6P145 Q9NP16 Q9UEM2

Explore the universe of human proteins at neXtProt for NPEPPS: NX_P55786

Explore proteomics data for NPEPPS at MOPED

Post-translational modifications:

Ubiquitination² at Lys155, Lys208, Lys234, Lys287, Lys293, Lys455, Lys467

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for NPEPPS (P55786) (see all 6)

WLNEGFA

STYLVAF

WFGNLVT

GAMENWG

See NPEPPS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_006301.3

ENSEMBL proteins:

ENSP00000437019 ENSP00000433287 ENSP00000433735 ENSP00000434554 ENSP00000320324

ENSP00000434585 ENSP00000433649 ENSP00000435639 ENSP00000436733 ENSP00000435966

ENSP00000432127 ENSP00000433549 ENSP00000442461

Reactome Protein details: P55786

NPEPPS Human Recombinant Protein Products:

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NPEPPS Assay Products:

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	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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IUPHAR Guide to PHARMACOLOGY protein family classification: Puromycin-sensitive aminopeptidase

Aminopeptidases

4 InterPro protein domains:

IPR014782 Peptidase_M1_N

IPR024571 ERAP1-like_C_dom

IPR015568 NPEPPS

IPR001930 Peptidase_M1

Graphical View of Domain Structure for InterPro Entry P55786

ProtoNet protein and cluster: P55786

1 Blocks protein domain: IPB001930 Membrane alanyl dipeptidase (M1) family signature

UniProtKB/Swiss-Prot: PSA_HUMAN, P55786

Similarity: Belongs to the peptidase M1 family

NPEPPS for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: PSA_HUMAN, P55786

Function: Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events

essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the

antigen-processing pathway for MHC class I molecules. Involved in the N-terminal trimming of cytotoxic T-cell

epitope precursors. Digests the poly-Q peptides found in many cellular proteins. Digests tau from normal brain

more efficiently than tau from Alzheimer disease brain

Catalytic activity: Release of an N-terminal amino acid, preferentially alanine, from a wide range of peptides,

amides and arylamides

Enzyme regulation: Strongly inhibited by bestatin, leuhistin, actinonin, amastatin, 1,10-phenanthroline, DFP,

PCMBS, Zn(2+), Cd(2+), Co(2+), Cu(2+), Hg(2+), EDTA and puromycin. Not inhibited by PMSF, and only slightly

inhibited by leupeptin and aprotinin. Activity is increased by Mg(2+) and Ca(2+)

Biophysicochemical properties: Kinetic parameters: KM=2.20 mM for Lys-p-NA; KM=0.25 mM for Leu-p-NA; KM=0.27 mM

for Ala-p-NA; KM=0.80 mM for Met-p-NA; KM=0.47 mM for Pro-p-NA; KM=0.21 mM for Val-p-NA; KM=182 uM for Ala-MCA;

KM=189 uM for Met-MCA; KM=220 uM for Lys-MCA; KM=91 uM for Leu-MCA; KM=167 uM for Phe-MCA; pH dependence: Optimum

pH is 7.5. Stable from pH 5.0 to 8.0; Temperature dependence: Stable up to 40 degrees Celsius;

Genatlas biochemistry entry for NPEPPS:

aminopeptidase puromycin sensitive,expressed in the brain (most abundant aminopeptidase),localized in cortical and

cerebellar neurons,putatively contributing to the degradation of enkephalins

Enzyme Numbers (IUBMB): EC 3.4.11.3² EC 3.4.11.14¹ EC 3.4.11.2² EC 3.4.11²

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004177	aminopeptidase activity	IEA	--
GO:0008237	metallopeptidase activity	IEA	--
GO:0008270	zinc ion binding	IEA	--

NPEPPS for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for NPEPPS:

Increased gamma-H2AX phosphory

8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Npepps):

behavior/neurological	endocrine/exocrine gland	growth/size/body	homeostasis/metabolism	immune system
integument	mortality/aging	reproductive system

NPEPPS for phenotypes About GeneDecksing

Animal Models:

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genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPEPPS

miRNA Products:		miRTarBase miRNAs that target NPEPPS: hsa-mir-122-5p (MIRT023333), hsa-mir-93-5p (MIRT048787), hsa-mir-320a (MIRT044392), hsa-mir-423-3p (MIRT042580), hsa-mir-484 (MIRT041818), hsa-mir-27b-3p (MIRT046171)

		Block miRNA regulation of human, mouse, rat NPEPPS using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate NPEPPS (see all 56):
		hsa-miR-1197 hsa-miR-513a-5p hsa-miR-128 hsa-miR-3653 hsa-miR-138-2* hsa-miR-4274 hsa-miR-489 hsa-miR-29a*

		SwitchGear 3'UTR luciferase reporter plasmid: NPEPPS 3' UTR sequence

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Gene Editing
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		GenScript: all cDNA clones in your preferred vector: NPEPPS (NM_006310)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPEPPS
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPEPPS

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

PSA_HUMAN, P55786: Cytoplasm, cytosol. Nucleus (Potential)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	5
mitochondrion	3
nucleus	3
plasma membrane	3
endoplasmic reticulum	1

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005829	cytosol	TAS	--
GO:0070062	extracellular vesicular exosome	IDA	19056867

NPEPPS for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for NPEPPS About

See pathways by source

SuperPath

Contained pathways About

Class I MHC mediated antigen processing and presentation

	Class I MHC mediated antigen processing and presentation	0.84			Adaptive Immune System	0.41
	Antigen processing- Ubiquitination and Proteasome degradation	0.84

Selected targets of GCR alpha

Selected targets of GCR alpha

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for NPEPPS

Antigen processing: Ubiquitination & Proteasome degradation

NPEPPS for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for NPEPPS
Interactions:

Search GeneGlobe Interaction Network for NPEPPS

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for NPEPPS (P55786^{1, 3} ENSP00000320324⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 135)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=1
HIST1H4B	P62805³	I2D: score=1
HIST1H4C	P62805³	I2D: score=1
HIST1H4D	P62805³	I2D: score=1
HIST1H4E	P62805³	I2D: score=1

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Gene Ontology (GO): 4 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000209	protein polyubiquitination	TAS	--
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	--
GO:0006508	proteolysis	--	--
GO:0071456	cellular response to hypoxia	IDA	--

NPEPPS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for NPEPPS (PSA)

6 Novoseek inferred chemical compound relationships for NPEPPS gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
thimet	76	2	14734113 (1)
puromycin	74.8	21	17154549 (4), 9244402 (3), 11082703 (2), 20377816 (2) (see all 6)
bestatin	72.5	2	11082703 (1)
bleomycin	55.3	6	15187416 (1), 12200051 (1), 14734113 (1), 16455981 (1)
leucine	35.1	3	15187416 (1), 16455981 (1)
glutamine	12.4	4	17318184 (2), 12729622 (1)

NPEPPS for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for NPEPPS gene:

NM_006310.3

Unigene Cluster for NPEPPS:

Aminopeptidase puromycin sensitive

Hs.443837 [show with all ESTs]

Unigene Representative Sequence: NM_006310

26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see top 18):

ENST00000525007 ENST00000525037(uc010dba.1) ENST00000528751 ENST00000530173

ENST00000526247 ENST00000532729 ENST00000322157(uc010wkt.2 uc002ilr.4 uc010wku.2 uc010wkv.2)

ENST00000533573 ENST00000527298 ENST00000534691 ENST00000602788 ENST00000527824

ENST00000534727 ENST00000534814 ENST00000525401 ENST00000527964 ENST00000530514

ENST00000527360 ENST00000533538 ENST00000525021 ENST00000529602 ENST00000534807

ENST00000525048 ENST00000531486(uc002ils.1) ENST00000528565 ENST00000544660

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		Block miRNA regulation of human, mouse, rat NPEPPS using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate NPEPPS (see all 56):
		hsa-miR-1197 hsa-miR-513a-5p hsa-miR-128 hsa-miR-3653 hsa-miR-138-2* hsa-miR-4274 hsa-miR-489 hsa-miR-29a*

		SwitchGear 3'UTR luciferase reporter plasmid: NPEPPS 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: NPEPPS (NM_006310)
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		QuantiFast Probe-based Assays in human, mouse, rat NPEPPS

Additional mRNA sequence:

AJ132583.1 AK095877.1 AK096491.1 AK096709.1 AK293450.1 AK293995.1 AK296887.1 AK297107.1

AK303037.1 BC065294.1 BC067792.1 NR_036750.1 XR_172201.1

Selected DOTS entries (see all 37):

DT.85104799 DT.91934981 DT.100810296 DT.100824478 DT.70101756 DT.91811703 DT.102843581 DT.100727004

DT.100824472 DT.40117560 DT.120896689 DT.91883443 DT.100640887 DT.120896634 DT.86835850 DT.120896722

DT.419664 DT.91982917 DT.97864464 DT.99987084 DT.100809252 DT.100824473 DT.120896643 DT.120896678

Selected AceView cDNA sequences (see all 558):

BQ637169 Z46195 AA811175 BQ918409 AW572592 AW055008 H88733 BU618303

CB052405 BE255877 AA043325 BM474975 BM750492 AW474894 AW160904 BE253168

AA236597 BU159521 AW515849 AA356510 AA775234 AI922696 AI201527 W61096

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for NPEPPS About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14	^	15a	·	15b	^	16	^	17	^	18	^	19	^	20a	·	20b	^	21a	·	21b	^	22	^
SP1:																									-								-																-		-
SP2:
SP3:																																																	-
SP4:

ExUns:	23	^	24a	·	24b
SP1:
SP2:
SP3:
SP4:

ECgene alternative splicing isoforms for NPEPPS

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NPEPPS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GTAGGAAAGC

About this image

NPEPPS expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 8) fully expand


Brain (Nervous System) fully expand to see all 2 entries
Cerebral Cortex

Lung (Respiratory System)
Trachea

Kidney (Urinary System)
Metanephros

Neural Tube (Nervous System)
Telencephalon

Ovary (Reproductive System)

NPEPPS Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

NPEPPS Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.443837

UniProtKB/Swiss-Prot: PSA_HUMAN, P55786

Tissue specificity: Detected in liver, epithelium of renal tubules, epithelium of small and large intestine,

gastric epithelial cells, and alveoli of the lung (at protein level)

Custom PCR Arrays for NPEPPS

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		QuantiFast Probe-based Assays in human, mouse, rat NPEPPS

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPEPPS

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for NPEPPS gene from Selected species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Npepps^{1 , 5}	aminopeptidase puromycin sensitive^{1, 5}	92.71(n)¹ 96.84(a)¹		11 (60.95 cM)⁵ 19155¹ NM_008942.2¹ NP_032968.2¹ 97205842⁵
chicken (Gallus gallus)	Aves	NPEPPS¹	aminopeptidase puromycin sensitive	84.35(n) 91.96(a)		426231 XM_001234985.3 XP_001234986.3
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	91(a)	1 → many	6(74082401-74177355)
African clawed frog (Xenopus laevis)	Amphibia	CA987419.1²	--	77.26(n)		CA987419.1
zebrafish (Danio rerio)	Actinopterygii	BC055665.1²	--	76.64(n)		BC055665.1
fruit fly (Drosophila melanogaster)	Insecta	Psa^{1 , 3}	cytosol alanyl aminopeptidase³ Puromycin sensitive aminopeptidase¹	56(a) (best of 3)³ 56.59(n)¹ 56.98(a)¹		38175¹ NM_167883.2¹ NP_728614.1¹
worm (Caenorhabditis elegans)	Secernentea	F49E8.3³ pam-1¹	pam-1¹	39(a) (best of 5)³ 49.81(n)¹ 39.84(a)¹		IV(7544328-7547304)³ 177528¹ NM_001028039.1¹ NP_001023210.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	AAP1(YHR047C)⁴ APE2¹	Arginine/alanine aminopeptidase, overproduction stimulates more⁴ APE2¹	47.14(n)¹ 36.75(a)¹		8(201310-198740)⁴ 853699¹ NP_012765.3¹ 856443⁴ NP_011913.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	APM1¹	APM1	53.28(n) 47.4(a)		829446 NM_119463.4 NP_195035.2
rice (Oryza sativa)	Liliopsida	AK120068.1²	--	75.43(n)		AK120068.1

ENSEMBL Gene Tree for NPEPPS (if available)
TreeFam Gene Tree for NPEPPS (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for NPEPPS gene

LNPEP² ENPEP² TRHDE² ANPEP² LOC101060212² ERAP1² AQPEP² ERAP2²

8 SIMAP similar genes for NPEPPS using alignment to 13 protein entries: PSA_HUMAN (see all proteins):

NPEPPSL1 LOC100510707 ANPEP TRHDE ENPEP LNPEP

ERAP2 ERAP1

NPEPPS for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for NPEPPS
PGOHUM00000258041 PGOHUM00000258042

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs181445084^1,2		--	45606581(+)	`ACTTTA/GAATAA`	1	--	us2k¹		0	--	--	--	--
rs9891118^1,2	C,A,H	--	45606584(+)	`TTAAAA/G/TAACAT`	1	--	us2k¹		5		NA WA	14
rs2611988^1,2	C,H	--	45606594(-)	`AATTTA/TAAAAA`	1	--	us2k¹		0	--	--	--	--
rs79481429^1,2	F	--	45606809(+)	`GTTGTA/CGCCCA`	1	--	us2k¹		1		NA	2
rs200029608^1,2	C	--	45607102(+)	`GTTACA/TTTATA`	1	--	us2k¹		0	--	--	--	--
rs201105590^1,2	C	--	45607103(+)	`TTACAA/TTATAT`	1	--	us2k¹		0	--	--	--	--
rs186564653^1,2		--	45607167(+)	`AAGGTA/GTCTAC`	1	--	us2k¹		0	--	--	--	--
rs200538359^1,2	C	--	45607285(+)	`CCCAT-/TTTA TTTAT`	1	--	us2k¹		0	--	--	--	--
rs191074635^1,2		--	45607312(+)	`TATTTA/TTTTAT`	1	--	us2k¹		0	--	--	--	--
rs182867080^1,2		--	45607316(+)	`TATTTA/TTTTTG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NPEPPS (45600308 - 45700642 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for NPEPPS (see all 23): About this table

Variant ID	Type	Subtype	PubMed ID
esv2675559	CNV	Deletion	23128226
esv2716010	CNV	Deletion	23290073
nsv471513	CNV	Duplication	19718026
nsv471403	CNV	Duplication	19718026
nsv821341	CNV	Duplication	20802225
esv33689	CNV	Loss	17666407
nsv471701	CNV	Gain	15918152
nsv428344	CNV	Gain	18775914
nsv482203	CNV	Gain	20164927
nsv828034	CNV	Gain	20364138

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing NPEPPS

DNA2.0 Custom Variant and Variant Library Synthesis for NPEPPS

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 606793 OMIM disorders: --

20 diseases for NPEPPS:
About MalaCards

high pressure neurological syndrome tauopathy clear cell renal cell carcinoma frontotemporal dementia

renal cell carcinoma dementia bipolar disorder alzheimer's disease

pneumonia cystic fibrosis prostate cancer prostatitis

hypoxia tuberculosis schizophrenia squamous cell carcinoma

hiv-1 malaria cerebritis neuronitis

2 diseases from the University of Copenhagen DISEASES database for NPEPPS:

Schizophrenia Bipolar disorder

NPEPPS for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

4 Novoseek inferred disease relationships for NPEPPS gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tauopathies	64.1	2	16950154 (2)
alzheimers disease	6.57	1	17476590 (1)
tumors	0	4	16985214 (1), 12431818 (1)
prostate cancer	0	2	12431818 (2)

Human Genome Epidemiology (HuGE) Navigator: NPEPPS (1 document)

Export disorders for NPEPPS gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for NPEPPS gene, integrated from 10 sources (see all 79):
(articles sorted by number of sources associating them with NPEPPS)

Utopia: connect your pdf to the dynamic
world of online information

Cloning of the human puromycin-sensitive aminopeptidase and evidence for expression in neurons. (PubMed id 9048733)^{1, 2, 3, 9} Tobler A.R.... Fontana A. (J. Neurochem. 1997)
Cloning and analysis of the gene for the human puromycin-sensitive aminopeptidase. (PubMed id 10329370)^{1, 2, 3, 9} Thompson M.W.... Hersh L.B. (Biochem. Biophys. Res. Commun. 1999)
Human puromycin-sensitive aminopeptidase: cloning of 3' UTR, evidence for a polymorphism at a.a. 140 and refined chromosomal localization to 17q21. (PubMed id 11435692)^{1, 2, 9} Bauer W.O.... Jakob F. (Cytogenet. Cell Genet. 2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Degradation of tau protein by puromycin-sensitive aminopeptidase in vitro. (PubMed id 17154549)^{2, 9} Sengupta S.... Binder L.I. (Biochemistry 2006)
cDNA cloning and molecular characterization of human brain metalloprotease MP100: a beta-secretase candidate? (PubMed id 10037494)^{1, 9} Huber G....Malherbe P. (J. Neurochem. 1999)
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. (PubMed id 20377816)^{1, 9} Yanagi K....Takeda M. (Psychogeriatrics 2009)
Puromycin-sensitive aminopeptidase is the major peptidase responsible for digesting polyglutamine sequences released by proteasomes during protein degradation. (PubMed id 17318184)^{2, 9} Bhutani N.... Goldberg A.L. (EMBO J. 2007)
Cobalt chloride-induced downregulation of puromycin-sensitive aminopeptidase suppresses the migration and invasion of PC-3 cells. (PubMed id 19494703)^{1, 9} Lee S.H. and Kim H.G. (J. Microbiol. Biotechnol. 2009)
Cytosolic aminopeptidases influence MHC class I-mediated antigen presentation in an allele-dependent manner. (PubMed id 19917696)^{2, 9} Kim E.... Ahn K. (J. Immunol. 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 9520	HGNC: 7900	AceView: NPEPPS	Ensembl:ENSG00000141279	euGenes: HUgn9520
ECgene: NPEPPS	H-InvDB: NPEPPS

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NPEPPS	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NPEPPS gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for NPEPPS gene:
Search GeneIP for patents involving NPEPPS

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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Aminopeptidase Puromycin Sensitive

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Aminopeptidase Puromycin Sensitive

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