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PNP (purine nucleoside phosphorylase)

Identity

Alias_namesNP
nucleoside phosphorylase
Alias_symbol (synonym)PUNP
HGNC (Hugo) PNP
LocusID (NCBI) 4860
Atlas_Id 46893
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 20937538 and ends at 20946165 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
APOA2 (1q23.3) / PNP (14q11.2)KMT5B (11q13.2) / PNP (14q11.2)PNP (14q11.2) / RAB7A (3q21.3)

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)PNP   7892
LRG (Locus Reference Genomic)LRG_91
Cards
Entrez_Gene (NCBI)PNP  4860  purine nucleoside phosphorylase
AliasesNP; PRO1837; PUNP
GeneCards (Weizmann)PNP
Ensembl hg19 (Hinxton)ENSG00000198805 [Gene_View]  chr14:20937538-20946165 [Contig_View]  PNP [Vega]
Ensembl hg38 (Hinxton)ENSG00000198805 [Gene_View]  chr14:20937538-20946165 [Contig_View]  PNP [Vega]
ICGC DataPortalENSG00000198805
TCGA cBioPortalPNP
AceView (NCBI)PNP
Genatlas (Paris)PNP
WikiGenes4860
SOURCE (Princeton)PNP
Genetics Home Reference (NIH)PNP
Genomic and cartography
GoldenPath hg19 (UCSC)PNP  -     chr14:20937538-20946165 +  14q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PNP  -     14q11.2   [Description]    (hg38-Dec_2013)
EnsemblPNP - 14q11.2 [CytoView hg19]  PNP - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBIPNP [Mapview hg19]  PNP [Mapview hg38]
OMIM164050   613179   
Gene and transcription
Genbank (Entrez)AK098544 AK126154 AK307340 AK307364 AK313490
RefSeq transcript (Entrez)NM_000270
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_009631 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)PNP
Cluster EST : UnigeneHs.75514 [ NCBI ]
CGAP (NCI)Hs.75514
Alternative Splicing GalleryENSG00000198805
Gene ExpressionPNP [ NCBI-GEO ]   PNP [ EBI - ARRAY_EXPRESS ]   PNP [ SEEK ]   PNP [ MEM ]
Gene Expression Viewer (FireBrowse)PNP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4860
GTEX Portal (Tissue expression)PNP
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00491   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00491  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00491
Splice isoforms : SwissVarP00491
Catalytic activity : Enzyme2.4.2.1 [ Enzyme-Expasy ]   2.4.2.12.4.2.1 [ IntEnz-EBI ]   2.4.2.1 [ BRENDA ]   2.4.2.1 [ KEGG ]   
PhosPhoSitePlusP00491
Domaine pattern : Prosite (Expaxy)PNP_MTAP_2 (PS01240)   
Domains : Interpro (EBI)Nucleoside_phosphorylase_d    PNP/MTAP    Pur_Nuc_Pase_Ino/Guo-sp    Purine_phosphorylase    Purine_phosphorylase-2_CS   
Domain families : Pfam (Sanger)PNP_UDP_1 (PF01048)   
Domain families : Pfam (NCBI)pfam01048   
Conserved Domain (NCBI)PNP
DMDM Disease mutations4860
Blocks (Seattle)PNP
PDB (SRS)1M73    1PF7    1PWY    1RCT    1RFG    1RR6    1RSZ    1RT9    1ULA    1ULB    1V2H    1V3Q    1V41    1V45    1YRY    2A0W    2A0X    2A0Y    2OC4    2OC9    2ON6    2Q7O    3BGS    3D1V    3GB9    3GGS    3INY    3K8O    3K8Q    3PHB    4EAR    4EB8    4ECE    4GKA   
PDB (PDBSum)1M73    1PF7    1PWY    1RCT    1RFG    1RR6    1RSZ    1RT9    1ULA    1ULB    1V2H    1V3Q    1V41    1V45    1YRY    2A0W    2A0X    2A0Y    2OC4    2OC9    2ON6    2Q7O    3BGS    3D1V    3GB9    3GGS    3INY    3K8O    3K8Q    3PHB    4EAR    4EB8    4ECE    4GKA   
PDB (IMB)1M73    1PF7    1PWY    1RCT    1RFG    1RR6    1RSZ    1RT9    1ULA    1ULB    1V2H    1V3Q    1V41    1V45    1YRY    2A0W    2A0X    2A0Y    2OC4    2OC9    2ON6    2Q7O    3BGS    3D1V    3GB9    3GGS    3INY    3K8O    3K8Q    3PHB    4EAR    4EB8    4ECE    4GKA   
PDB (RSDB)1M73    1PF7    1PWY    1RCT    1RFG    1RR6    1RSZ    1RT9    1ULA    1ULB    1V2H    1V3Q    1V41    1V45    1YRY    2A0W    2A0X    2A0Y    2OC4    2OC9    2ON6    2Q7O    3BGS    3D1V    3GB9    3GGS    3INY    3K8O    3K8Q    3PHB    4EAR    4EB8    4ECE    4GKA   
Structural Biology KnowledgeBase1M73    1PF7    1PWY    1RCT    1RFG    1RR6    1RSZ    1RT9    1ULA    1ULB    1V2H    1V3Q    1V41    1V45    1YRY    2A0W    2A0X    2A0Y    2OC4    2OC9    2ON6    2Q7O    3BGS    3D1V    3GB9    3GGS    3INY    3K8O    3K8Q    3PHB    4EAR    4EB8    4ECE    4GKA   
SCOP (Structural Classification of Proteins)1M73    1PF7    1PWY    1RCT    1RFG    1RR6    1RSZ    1RT9    1ULA    1ULB    1V2H    1V3Q    1V41    1V45    1YRY    2A0W    2A0X    2A0Y    2OC4    2OC9    2ON6    2Q7O    3BGS    3D1V    3GB9    3GGS    3INY    3K8O    3K8Q    3PHB    4EAR    4EB8    4ECE    4GKA   
CATH (Classification of proteins structures)1M73    1PF7    1PWY    1RCT    1RFG    1RR6    1RSZ    1RT9    1ULA    1ULB    1V2H    1V3Q    1V41    1V45    1YRY    2A0W    2A0X    2A0Y    2OC4    2OC9    2ON6    2Q7O    3BGS    3D1V    3GB9    3GGS    3INY    3K8O    3K8Q    3PHB    4EAR    4EB8    4ECE    4GKA   
SuperfamilyP00491
Human Protein AtlasENSG00000198805
Peptide AtlasP00491
HPRD01247
IPIIPI00017672   IPI01024886   IPI01024768   IPI01025075   IPI01025985   
Protein Interaction databases
DIP (DOE-UCLA)P00491
IntAct (EBI)P00491
FunCoupENSG00000198805
BioGRIDPNP
STRING (EMBL)PNP
ZODIACPNP
Ontologies - Pathways
QuickGOP00491
Ontology : AmiGOnucleoside binding  purine nucleobase binding  purine-nucleoside phosphorylase activity  purine-nucleoside phosphorylase activity  intracellular  nucleus  cytoplasm  cytosol  cytoskeleton  nucleobase-containing compound metabolic process  inosine catabolic process  purine nucleotide catabolic process  nicotinamide riboside catabolic process  immune response  drug binding  NAD biosynthesis via nicotinamide riboside salvage pathway  urate biosynthetic process  positive regulation of T cell proliferation  phosphate ion binding  response to drug  response to drug  purine-containing compound salvage  purine-containing compound salvage  positive regulation of alpha-beta T cell differentiation  extracellular exosome  interleukin-2 secretion  
Ontology : EGO-EBInucleoside binding  purine nucleobase binding  purine-nucleoside phosphorylase activity  purine-nucleoside phosphorylase activity  intracellular  nucleus  cytoplasm  cytosol  cytoskeleton  nucleobase-containing compound metabolic process  inosine catabolic process  purine nucleotide catabolic process  nicotinamide riboside catabolic process  immune response  drug binding  NAD biosynthesis via nicotinamide riboside salvage pathway  urate biosynthetic process  positive regulation of T cell proliferation  phosphate ion binding  response to drug  response to drug  purine-containing compound salvage  purine-containing compound salvage  positive regulation of alpha-beta T cell differentiation  extracellular exosome  interleukin-2 secretion  
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    Nicotinate and nicotinamide metabolism   
NDEx NetworkPNP
Atlas of Cancer Signalling NetworkPNP
Wikipedia pathwaysPNP
Orthology - Evolution
OrthoDB4860
GeneTree (enSembl)ENSG00000198805
Phylogenetic Trees/Animal Genes : TreeFamPNP
HOVERGENP00491
HOGENOMP00491
Homologs : HomoloGenePNP
Homology/Alignments : Family Browser (UCSC)PNP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPNP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNP
dbVarPNP
ClinVarPNP
1000_GenomesPNP 
Exome Variant ServerPNP
ExAC (Exome Aggregation Consortium)PNP (select the gene name)
Genetic variants : HAPMAP4860
Genomic Variants (DGV)PNP [DGVbeta]
DECIPHER (Syndromes)14:20937538-20946165  ENSG00000198805
CONAN: Copy Number AnalysisPNP 
Mutations
ICGC Data PortalPNP 
TCGA Data PortalPNP 
Broad Tumor PortalPNP
OASIS PortalPNP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPNP
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch PNP
DgiDB (Drug Gene Interaction Database)PNP
DoCM (Curated mutations)PNP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNP (select a term)
intoGenPNP
Cancer3DPNP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164050    613179   
Orphanet671   
MedgenPNP
Genetic Testing Registry PNP
NextProtP00491 [Medical]
TSGene4860
GENETestsPNP
Huge Navigator PNP [HugePedia]
snp3D : Map Gene to Disease4860
BioCentury BCIQPNP
ClinGenPNP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4860
Chemical/Pharm GKB GenePA31694
Clinical trialPNP
Miscellaneous
canSAR (ICR)PNP (select the gene name)
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNP
EVEXPNP
GoPubMedPNP
iHOPPNP
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 : Fri Nov 18 19:47:56 CET 2016

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