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PNKP (polynucleotide kinase 3'-phosphatase)

Identity

Alias_symbol (synonym)PNK
Other aliasAOA4
EIEE10
MCSZ
HGNC (Hugo) PNKP
LocusID (NCBI) 11284
Atlas_Id 41764
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49861203 and ends at 49867565 bp from pter ( according to hg38-Dec_2013)

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)PNKP   9154
Cards
Entrez_Gene (NCBI)PNKP  11284  polynucleotide kinase 3'-phosphatase
AliasesAOA4; EIEE10; MCSZ; PNK
GeneCards (Weizmann)PNKP
Ensembl hg19 (Hinxton)ENSG00000039650 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000039650 [Gene_View]  chr19:49861203-49867565 [Contig_View]  PNKP [Vega]
ICGC DataPortalENSG00000039650
TCGA cBioPortalPNKP
AceView (NCBI)PNKP
Genatlas (Paris)PNKP
WikiGenes11284
SOURCE (Princeton)PNKP
Genetics Home Reference (NIH)PNKP
Genomic and cartography
GoldenPath hg38 (UCSC)PNKP  -     chr19:49861203-49867565 -  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PNKP  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblPNKP - 19q13.33 [CytoView hg19]  PNKP - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIPNKP [Mapview hg19]  PNKP [Mapview hg38]
OMIM605610   613402   616267   
Gene and transcription
Genbank (Entrez)AA640353 AF120499 AF125807 AF126486 BC002519
RefSeq transcript (Entrez)NM_007254
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PNKP
Cluster EST : UnigeneHs.78016 [ NCBI ]
CGAP (NCI)Hs.78016
Alternative Splicing GalleryENSG00000039650
Gene ExpressionPNKP [ NCBI-GEO ]   PNKP [ EBI - ARRAY_EXPRESS ]   PNKP [ SEEK ]   PNKP [ MEM ]
Gene Expression Viewer (FireBrowse)PNKP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11284
GTEX Portal (Tissue expression)PNKP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96T60   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96T60  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96T60
Splice isoforms : SwissVarQ96T60
Catalytic activity : Enzyme3.1.3.32 [ Enzyme-Expasy ]   3.1.3.323.1.3.32 [ IntEnz-EBI ]   3.1.3.32 [ BRENDA ]   3.1.3.32 [ KEGG ]   
PhosPhoSitePlusQ96T60
Domains : Interpro (EBI)FHA_dom    HAD-like_dom    HAD-SF_hydro_IIIA    P-loop_NTPase    PNK3P    PNK_3Pase_met    Polynucleotide_phosphatase    SMAD_FHA_domain   
Domain families : Pfam (Sanger)PNK3P (PF08645)   
Domain families : Pfam (NCBI)pfam08645   
Conserved Domain (NCBI)PNKP
DMDM Disease mutations11284
Blocks (Seattle)PNKP
PDB (SRS)2BRF    2W3O   
PDB (PDBSum)2BRF    2W3O   
PDB (IMB)2BRF    2W3O   
PDB (RSDB)2BRF    2W3O   
Structural Biology KnowledgeBase2BRF    2W3O   
SCOP (Structural Classification of Proteins)2BRF    2W3O   
CATH (Classification of proteins structures)2BRF    2W3O   
SuperfamilyQ96T60
Human Protein AtlasENSG00000039650
Peptide AtlasQ96T60
HPRD09284
IPIIPI00290684   
Protein Interaction databases
DIP (DOE-UCLA)Q96T60
IntAct (EBI)Q96T60
FunCoupENSG00000039650
BioGRIDPNKP
STRING (EMBL)PNKP
ZODIACPNKP
Ontologies - Pathways
QuickGOQ96T60
Ontology : AmiGOnucleotide-excision repair, DNA damage removal  damaged DNA binding  double-stranded DNA binding  endonuclease activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleolus  mitochondrion  DNA-dependent DNA replication  DNA repair  response to oxidative stress  response to radiation  response to radiation  membrane  dephosphorylation  purine nucleotide binding  nucleotide kinase activity  positive regulation of telomere maintenance via telomerase  DNA damage response, detection of DNA damage  DNA damage response, detection of DNA damage  polynucleotide 3'-phosphatase activity  polynucleotide 3'-phosphatase activity  ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity  nucleotide phosphorylation  positive regulation of telomerase activity  nucleic acid phosphodiester bond hydrolysis  DNA 3' dephosphorylation involved in DNA repair  polynucleotide 3' dephosphorylation  positive regulation of telomere capping  
Ontology : EGO-EBInucleotide-excision repair, DNA damage removal  damaged DNA binding  double-stranded DNA binding  endonuclease activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleolus  mitochondrion  DNA-dependent DNA replication  DNA repair  response to oxidative stress  response to radiation  response to radiation  membrane  dephosphorylation  purine nucleotide binding  nucleotide kinase activity  positive regulation of telomere maintenance via telomerase  DNA damage response, detection of DNA damage  DNA damage response, detection of DNA damage  polynucleotide 3'-phosphatase activity  polynucleotide 3'-phosphatase activity  ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity  nucleotide phosphorylation  positive regulation of telomerase activity  nucleic acid phosphodiester bond hydrolysis  DNA 3' dephosphorylation involved in DNA repair  polynucleotide 3' dephosphorylation  positive regulation of telomere capping  
NDEx NetworkPNKP
Atlas of Cancer Signalling NetworkPNKP
Wikipedia pathwaysPNKP
Orthology - Evolution
OrthoDB11284
GeneTree (enSembl)ENSG00000039650
Phylogenetic Trees/Animal Genes : TreeFamPNKP
HOVERGENQ96T60
HOGENOMQ96T60
Homologs : HomoloGenePNKP
Homology/Alignments : Family Browser (UCSC)PNKP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPNKP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNKP
dbVarPNKP
ClinVarPNKP
1000_GenomesPNKP 
Exome Variant ServerPNKP
ExAC (Exome Aggregation Consortium)PNKP (select the gene name)
Genetic variants : HAPMAP11284
Genomic Variants (DGV)PNKP [DGVbeta]
DECIPHERPNKP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPNKP 
Mutations
ICGC Data PortalPNKP 
TCGA Data PortalPNKP 
Broad Tumor PortalPNKP
OASIS PortalPNKP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNKP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPNKP
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 PNKP
DgiDB (Drug Gene Interaction Database)PNKP
DoCM (Curated mutations)PNKP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNKP (select a term)
intoGenPNKP
Cancer3DPNKP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605610    613402    616267   
Orphanet889    23767   
MedgenPNKP
Genetic Testing Registry PNKP
NextProtQ96T60 [Medical]
TSGene11284
GENETestsPNKP
Target ValidationPNKP
Huge Navigator PNKP [HugePedia]
snp3D : Map Gene to Disease11284
BioCentury BCIQPNKP
ClinGenPNKP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11284
Chemical/Pharm GKB GenePA33477
Clinical trialPNKP
Miscellaneous
canSAR (ICR)PNKP (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNKP
EVEXPNKP
GoPubMedPNKP
iHOPPNKP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:11:03 CEST 2017

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