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NPEPPS (aminopeptidase puromycin sensitive)

Identity

Alias_symbol (synonym)PSA
MP100
Other aliasAAP-S
HGNC (Hugo) NPEPPS
LocusID (NCBI) 9520
Atlas_Id 51212
Location 17q21.32  [Link to chromosome band 17q21]
Location_base_pair Starts at 47522957 and ends at 47623276 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KPNB1 (17q21.32) / NPEPPS (17q21.32)NPEPPS (17q21.32) / EPHA6 (3q11.2)NPEPPS (17q21.32) / NPEPPS (17q21.32)
NPEPPS (17q21.32) / SLC25A3 (12q23.1)PNPO (17q21.32) / NPEPPS (17q21.32)SYT13 (11p11.2) / NPEPPS (17q21.32)
TBC1D3 (17q12) / NPEPPS (17q21.32)PNPO 17q21.32 / NPEPPS 17q21.32

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)NPEPPS   7900
Cards
Entrez_Gene (NCBI)NPEPPS  9520  aminopeptidase puromycin sensitive
AliasesAAP-S; MP100; PSA
GeneCards (Weizmann)NPEPPS
Ensembl hg19 (Hinxton)ENSG00000141279 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141279 [Gene_View]  chr17:47522957-47623276 [Contig_View]  NPEPPS [Vega]
ICGC DataPortalENSG00000141279
TCGA cBioPortalNPEPPS
AceView (NCBI)NPEPPS
Genatlas (Paris)NPEPPS
WikiGenes9520
SOURCE (Princeton)NPEPPS
Genetics Home Reference (NIH)NPEPPS
Genomic and cartography
GoldenPath hg38 (UCSC)NPEPPS  -     chr17:47522957-47623276 +  17q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPEPPS  -     17q21.32   [Description]    (hg19-Feb_2009)
EnsemblNPEPPS - 17q21.32 [CytoView hg19]  NPEPPS - 17q21.32 [CytoView hg38]
Mapping of homologs : NCBINPEPPS [Mapview hg19]  NPEPPS [Mapview hg38]
OMIM606793   
Gene and transcription
Genbank (Entrez)AA864462 AJ132583 AK095877 AK096491 AK096709
RefSeq transcript (Entrez)NM_001330257 NM_006310
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NPEPPS
Cluster EST : UnigeneHs.443837 [ NCBI ]
CGAP (NCI)Hs.443837
Alternative Splicing GalleryENSG00000141279
Gene ExpressionNPEPPS [ NCBI-GEO ]   NPEPPS [ EBI - ARRAY_EXPRESS ]   NPEPPS [ SEEK ]   NPEPPS [ MEM ]
Gene Expression Viewer (FireBrowse)NPEPPS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9520
GTEX Portal (Tissue expression)NPEPPS
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55786   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55786  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55786
Splice isoforms : SwissVarP55786
Catalytic activity : Enzyme3.4.11.14 [ Enzyme-Expasy ]   3.4.11.143.4.11.14 [ IntEnz-EBI ]   3.4.11.14 [ BRENDA ]   3.4.11.14 [ KEGG ]   
PhosPhoSitePlusP55786
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)ERAP1-like_C_dom    M1_APN-typ    Peptidase_M1    Peptidase_M1_N   
Domain families : Pfam (Sanger)ERAP1_C (PF11838)    Peptidase_M1 (PF01433)   
Domain families : Pfam (NCBI)pfam11838    pfam01433   
Conserved Domain (NCBI)NPEPPS
DMDM Disease mutations9520
Blocks (Seattle)NPEPPS
SuperfamilyP55786
Human Protein AtlasENSG00000141279
Peptide AtlasP55786
HPRD07366
IPIIPI00026216   IPI00982314   IPI01015230   IPI00976960   IPI00979087   IPI00985227   IPI00978387   IPI00981747   IPI00981162   IPI00983504   IPI00982921   IPI00979863   IPI00984664   IPI00984113   IPI00978299   IPI00980440   
Protein Interaction databases
DIP (DOE-UCLA)P55786
IntAct (EBI)P55786
FunCoupENSG00000141279
BioGRIDNPEPPS
STRING (EMBL)NPEPPS
ZODIACNPEPPS
Ontologies - Pathways
QuickGOP55786
Ontology : AmiGOprotein polyubiquitination  aminopeptidase activity  nucleus  cytoplasm  cytosol  cytosol  proteolysis  zinc ion binding  peptide binding  peptide catabolic process  metalloaminopeptidase activity  extracellular exosome  cellular response to hypoxia  positive regulation of protein targeting to mitochondrion  
Ontology : EGO-EBIprotein polyubiquitination  aminopeptidase activity  nucleus  cytoplasm  cytosol  cytosol  proteolysis  zinc ion binding  peptide binding  peptide catabolic process  metalloaminopeptidase activity  extracellular exosome  cellular response to hypoxia  positive regulation of protein targeting to mitochondrion  
NDEx NetworkNPEPPS
Atlas of Cancer Signalling NetworkNPEPPS
Wikipedia pathwaysNPEPPS
Orthology - Evolution
OrthoDB9520
GeneTree (enSembl)ENSG00000141279
Phylogenetic Trees/Animal Genes : TreeFamNPEPPS
HOVERGENP55786
HOGENOMP55786
Homologs : HomoloGeneNPEPPS
Homology/Alignments : Family Browser (UCSC)NPEPPS
Gene fusions - Rearrangements
Fusion : MitelmanNPEPPS/EPHA6 [17q21.32/3q11.2]  
Fusion : MitelmanPNPO/NPEPPS [17q21.32/17q21.32]  [t(17;17)(q21;q21)]  
Fusion : MitelmanTBC1D3/NPEPPS [17q12/17q21.32]  [t(17;17)(q12;q21)]  
Fusion: TCGAPNPO 17q21.32 NPEPPS 17q21.32 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPEPPS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPEPPS
dbVarNPEPPS
ClinVarNPEPPS
1000_GenomesNPEPPS 
Exome Variant ServerNPEPPS
ExAC (Exome Aggregation Consortium)NPEPPS (select the gene name)
Genetic variants : HAPMAP9520
Genomic Variants (DGV)NPEPPS [DGVbeta]
DECIPHERNPEPPS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPEPPS 
Mutations
ICGC Data PortalNPEPPS 
TCGA Data PortalNPEPPS 
Broad Tumor PortalNPEPPS
OASIS PortalNPEPPS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPEPPS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNPEPPS
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NPEPPS
DgiDB (Drug Gene Interaction Database)NPEPPS
DoCM (Curated mutations)NPEPPS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPEPPS (select a term)
intoGenNPEPPS
Cancer3DNPEPPS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606793   
Orphanet
MedgenNPEPPS
Genetic Testing Registry NPEPPS
NextProtP55786 [Medical]
TSGene9520
GENETestsNPEPPS
Target ValidationNPEPPS
Huge Navigator NPEPPS [HugePedia]
snp3D : Map Gene to Disease9520
BioCentury BCIQNPEPPS
ClinGenNPEPPS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9520
Chemical/Pharm GKB GenePA31703
Clinical trialNPEPPS
Miscellaneous
canSAR (ICR)NPEPPS (select the gene name)
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPEPPS
EVEXNPEPPS
GoPubMedNPEPPS
iHOPNPEPPS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:47:14 CEST 2017

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