Atlas of Genetics and Cytogenetics in Oncology and Haematology


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XPNPEP3 (X-prolyl aminopeptidase 3)

Identity

Alias_namesX-prolyl aminopeptidase (aminopeptidase P) 3, putative
X-prolyl aminopeptidase 3, mitochondrial
Alias_symbol (synonym)APP3
NPHPL1
ICP55
Other alias
HGNC (Hugo) XPNPEP3
LocusID (NCBI) 63929
Atlas_Id 75792
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 40857081 and ends at 40862781 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LARGE (22q12.3) / XPNPEP3 (22q13.2)XPNPEP3 (22q13.2) / RTCB (22q12.3)XPNPEP3 (22q13.2) / SPOCK1 (5q31.2)
XPNPEP3 (22q13.2) / USO1 (4q21.1)

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

 


External links

Nomenclature
HGNC (Hugo)XPNPEP3   28052
Cards
Entrez_Gene (NCBI)XPNPEP3  63929  X-prolyl aminopeptidase 3
AliasesAPP3; ICP55; NPHPL1
GeneCards (Weizmann)XPNPEP3
Ensembl hg19 (Hinxton)ENSG00000196236 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196236 [Gene_View]  chr22:40857081-40862781 [Contig_View]  XPNPEP3 [Vega]
ICGC DataPortalENSG00000196236
TCGA cBioPortalXPNPEP3
AceView (NCBI)XPNPEP3
Genatlas (Paris)XPNPEP3
WikiGenes63929
SOURCE (Princeton)XPNPEP3
Genetics Home Reference (NIH)XPNPEP3
Genomic and cartography
GoldenPath hg38 (UCSC)XPNPEP3  -     chr22:40857081-40862781 +  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)XPNPEP3  -     22q13.2   [Description]    (hg19-Feb_2009)
EnsemblXPNPEP3 - 22q13.2 [CytoView hg19]  XPNPEP3 - 22q13.2 [CytoView hg38]
Mapping of homologs : NCBIXPNPEP3 [Mapview hg19]  XPNPEP3 [Mapview hg38]
OMIM613159   613553   
Gene and transcription
Genbank (Entrez)AI446638 AK301635 AK310502 AK313770 AL365514
RefSeq transcript (Entrez)NM_001204827 NM_022098
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)XPNPEP3
Cluster EST : UnigeneHs.529163 [ NCBI ]
CGAP (NCI)Hs.529163
Alternative Splicing GalleryENSG00000196236
Gene ExpressionXPNPEP3 [ NCBI-GEO ]   XPNPEP3 [ EBI - ARRAY_EXPRESS ]   XPNPEP3 [ SEEK ]   XPNPEP3 [ MEM ]
Gene Expression Viewer (FireBrowse)XPNPEP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)63929
GTEX Portal (Tissue expression)XPNPEP3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQH7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQH7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQH7
Splice isoforms : SwissVarQ9NQH7
Catalytic activity : Enzyme3.4.11.9 [ Enzyme-Expasy ]   3.4.11.93.4.11.9 [ IntEnz-EBI ]   3.4.11.9 [ BRENDA ]   3.4.11.9 [ KEGG ]   
PhosPhoSitePlusQ9NQH7
Domains : Interpro (EBI)Aminopep_P_N    Creatin/AminoP/Spt16_NTD    Creatinase/Aminopeptidase_P_N    Pept_M24   
Domain families : Pfam (Sanger)AMP_N (PF05195)    Peptidase_M24 (PF00557)   
Domain families : Pfam (NCBI)pfam05195    pfam00557   
Domain families : Smart (EMBL)AMP_N (SM01011)  
Conserved Domain (NCBI)XPNPEP3
DMDM Disease mutations63929
Blocks (Seattle)XPNPEP3
SuperfamilyQ9NQH7
Human Protein AtlasENSG00000196236
Peptide AtlasQ9NQH7
HPRD10052
IPIIPI00550192   IPI00795212   IPI00794503   IPI00922067   IPI00922407   IPI01009045   IPI00894358   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQH7
IntAct (EBI)Q9NQH7
FunCoupENSG00000196236
BioGRIDXPNPEP3
STRING (EMBL)XPNPEP3
ZODIACXPNPEP3
Ontologies - Pathways
QuickGOQ9NQH7
Ontology : AmiGOglomerular filtration  aminopeptidase activity  mitochondrion  metallopeptidase activity  protein processing  manganese ion binding  extracellular exosome  
Ontology : EGO-EBIglomerular filtration  aminopeptidase activity  mitochondrion  metallopeptidase activity  protein processing  manganese ion binding  extracellular exosome  
NDEx NetworkXPNPEP3
Atlas of Cancer Signalling NetworkXPNPEP3
Wikipedia pathwaysXPNPEP3
Orthology - Evolution
OrthoDB63929
GeneTree (enSembl)ENSG00000196236
Phylogenetic Trees/Animal Genes : TreeFamXPNPEP3
HOVERGENQ9NQH7
HOGENOMQ9NQH7
Homologs : HomoloGeneXPNPEP3
Homology/Alignments : Family Browser (UCSC)XPNPEP3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerXPNPEP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)XPNPEP3
dbVarXPNPEP3
ClinVarXPNPEP3
1000_GenomesXPNPEP3 
Exome Variant ServerXPNPEP3
ExAC (Exome Aggregation Consortium)XPNPEP3 (select the gene name)
Genetic variants : HAPMAP63929
Genomic Variants (DGV)XPNPEP3 [DGVbeta]
DECIPHERXPNPEP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisXPNPEP3 
Mutations
ICGC Data PortalXPNPEP3 
TCGA Data PortalXPNPEP3 
Broad Tumor PortalXPNPEP3
OASIS PortalXPNPEP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICXPNPEP3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDXPNPEP3
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch XPNPEP3
DgiDB (Drug Gene Interaction Database)XPNPEP3
DoCM (Curated mutations)XPNPEP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)XPNPEP3 (select a term)
intoGenXPNPEP3
Cancer3DXPNPEP3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613159    613553   
Orphanet12425   
MedgenXPNPEP3
Genetic Testing Registry XPNPEP3
NextProtQ9NQH7 [Medical]
TSGene63929
GENETestsXPNPEP3
Huge Navigator XPNPEP3 [HugePedia]
snp3D : Map Gene to Disease63929
BioCentury BCIQXPNPEP3
ClinGenXPNPEP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD63929
Chemical/Pharm GKB GenePA147357130
Clinical trialXPNPEP3
Miscellaneous
canSAR (ICR)XPNPEP3 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineXPNPEP3
EVEXXPNPEP3
GoPubMedXPNPEP3
iHOPXPNPEP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:01:48 CEST 2017

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