Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PNKP Gene

protein-coding   GIFtS: 61
GCID: GC19M050364

polynucleotide kinase 3'-phosphatase

 Explore 13 diseases affiliated with
PNKP via our new
 Human Malady Compendium 
Biological research products
for PNKP
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Polynucleotide Kinase 3'-Phosphatase1 2     MCSZ2 5
PNK1 2 5     Bifunctional Polynucleotide Phosphatase/Kinase2
DNA 5'-Kinase/3'-Phosphatase2 3     Homo Sapiens Polynucleotide Kinase 3'-Phosphatase (PNKP)2
EIEE102 5     Polynucleotide Kinase-3'-Phosphatase3

External Ids:    HGNC: 91541   Entrez Gene: 112842   Ensembl: ENSG000000396507   OMIM: 6056105   UniProtKB: Q96T603   

Export aliases for PNKP gene to outside databases

Previous GC identifers: GC19M051022 GC19M050732 GC19M055040 GC19M055056 GC19M046740


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PNKP:
This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein
encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus
have been associated with microcephaly, seizures, and developmental delay.(provided by RefSeq, Sep 2010)

UniProtKB/Swiss-Prot: PNKP_HUMAN, Q96T60
Function: Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining
(NHEJ) and base excision repair (BER) pathways. Through its two catalytic activities, PNK ensures that DNA termini are
compatible with extension and ligation by either removing 3'-phosphates from, or by phosphorylating 5'-hydroxyl groups
on, the ribose sugar of the DNA backbone

Gene Wiki entry for PNKP


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PNKP gene promoter:
         p53   Sp1   SREBP-1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PNKP promoter sequence
   Search SABiosciences Chromatin IP Primers for PNKP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PNKP


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

Entrez Gene cytogenetic band: 19q13.3-q13.4   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3-q13.4

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M050364:  view genomic region     (about GC identifiers)

Start:
50,364,461 bp from pter      End:
50,370,818 bp from pter
Size:
6,358 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PNKP_HUMAN, Q96T60 (See protein sequence)
Recommended Name: Bifunctional polynucleotide phosphatase/kinase  
Size: 521 amino acids; 57076 Da
Subunit: Monomer (By similarity)
Subcellular location: Nucleus
Sequence caution: Sequence=AAD47379.1; Type=Frameshift; Positions=Several;
2 PDB 3D structures from and Proteopedia for PNKP:
2BRF (3D)        2W3O (3D)    
Secondary accessions: Q9P1V2 Q9UKU8 Q9UNF8 Q9UNI0

Explore the universe of human proteins at neXtProt for PNKP: NX_Q96T60

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96T60

  • PNKP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_009185.2  
    ENSEMBL proteins: 
     ENSP00000323511  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: PNKP
    OriGene Protein Over-expression Lysate: PNKP
    OriGene Custom Protein Services for PNKP 
    GenScript Custom Purified and Recombinant Proteins Services for PNKP
    Novus Biologicals PNKP Proteins
    Novus Biologicals PNKP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PNKP

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--


    PNKP for ontologies           About GeneDecksing



    PNKP Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for PNKP  (Pnk1)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PNKP 
    GenScript Custom Superior Antibodies Services for PNKP
    Novus Biologicals PNKP Antibodies
    Search for Antibodies for PNKP at Abcam  
    Uscn Antibodies for PNKP
    ThermoFisher Antibodies for PNKP

    Assay Products for PNKP: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PNKP
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PNKP


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PNKP for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR008984 SMAD_FHA_domain
     IPR023214 HAD-like_dom
     IPR006549 HAD-SF_hydro_IIIA
     IPR013954 PNK3P
     IPR000253 FHA_dom

    Graphical View of Domain Structure for InterPro Entry Q96T60

    ProtoNet protein and cluster: Q96T60

    1 Blocks protein family: IPB013954 Polynucleotide kinase 3 phosphatase

    UniProtKB/Swiss-Prot: PNKP_HUMAN, Q96T60
    Domain: The FHA domain binds threonine-phosphorylated peptides from XRCC1/4, and is responsible for the recruitment of
    PNKP to the sites of DNA repair. The affinity is ten times greater if peptides are also phosphorylated on the serine
    preceeding the phosphothreonine
    Similarity: In the N-terminal section; belongs to the DNA 3' phosphatase family
    Similarity: Contains 1 FHA domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PNKP_HUMAN, Q96T60
    Function: Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining
    (NHEJ) and base excision repair (BER) pathways. Through its two catalytic activities, PNK ensures that DNA termini are
    compatible with extension and ligation by either removing 3'-phosphates from, or by phosphorylating 5'-hydroxyl groups
    on, the ribose sugar of the DNA backbone
    Catalytic activity: A 3'-phosphopolynucleotide + H(2)O = a polynucleotide + phosphate
    Catalytic activity: ATP + 5'-dephospho-DNA = ADP + 5'-phospho-DNA

         Genatlas biochemistry entry for PNKP:
    polynucleotide kinase-3 phosphatase,facilitating DNA repair of DNA strand breaks caused by oxidative damage

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: PNKP
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PNKP
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PNKP
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PNKP (see all 7)
    OriGene shRNA RFP: PNKP
    OriGene siRNA: PNKP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PNKP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PNKP

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNKP (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNKP (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: PNKP (NM_007254)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PNKP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNKP 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PNKP
    Search LifeMap BioReagents cell lines for PNKP

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNKP

    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684damaged DNA binding NAS10446193
    GO:0003690double-stranded DNA binding TAS10446193
    GO:0004519endonuclease activity NAS10446192
    GO:0005524ATP binding NAS10446192
    GO:0017076purine nucleotide binding NAS10446193


    PNKP for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for PNKP:
     Decreased telomerase activity  PARP inhibitor sensitization 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Non-homologous end-joining
    DNA damage NHEJ mechanisms of DSBs repair0.36
    DNA damage_NHEJ mechanisms of DSBs repair0.36
    2DNA Damage
    DNA Damage1.00
    3Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control1.00
    4Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for PNKP
        DNA damage NHEJ mechanisms of DSBs repair

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PNKP
        DNA Repair Mechanisms

    2 Cell Signaling Technology (CST) Pathways for PNKP
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for PNKP
        DNA damage NHEJ mechanisms of DSBs repair



    PNKP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PNKP

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

    5/36 Interacting proteins for PNKP (Q96T602, 3 ENSP000003235114) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XRCC4Q134262, 3, ENSP000003420114MINT-51171 MINT-8200112 MINT-51174 MINT-8200097 MINT-51172 MINT-8200126 MINT-51173 MINT-51175 I2D: score=4 STRING: ENSP00000342011
    TRIM37O949722, 3, ENSP000002622944MINT-67355 I2D: score=5 STRING: ENSP00000262294
    SMAD5Q997172, 3MINT-61828 I2D: score=3 
    XRCC1P188872, 3, ENSP000002628874MINT-8200077 I2D: score=5 STRING: ENSP00000262887
    TP53BP1Q128882, 3, ENSP000003714754MINT-8199157 I2D: score=1 STRING: ENSP00000371475
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000718nucleotide-excision repair, DNA damage removal NAS10446193
    GO:0006261DNA-dependent DNA replication NAS10446192
    GO:0006281DNA repair IGI10446192
    GO:0006979response to oxidative stress IDA10446192
    GO:0009314response to radiation TAS10446192


    PNKP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PNKP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PNKP

    4 HMDB Compounds for PNKP    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    5 Novoseek chemical compound relationships for PNKP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polynucleotide 93.6 23 10446192 (2), 11586300 (1), 16982218 (1), 13679147 (1) (see all 20)
    phosphonate 79.1 7 16648365 (2), 16982218 (1), 17116430 (1), 10446192 (1) (see all 6)
    atp 27.5 3 1621950 (1), 18007613 (1), 10446192 (1)
    adenylate 14.4 1 11842120 (1)
    oxygen 0 1 11586300 (1)

    Search CenterWatch for drugs/clinical trials and news about PNKP 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PNKP gene: 
    NM_007254.3  

    Unigene Cluster for PNKP:

    Polynucleotide kinase 3'-phosphatase
    Hs.78016  [show with all ESTs]
    Unigene Representative Sequence: BC013034
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000322344(uc002pqg.3 uc002pqi.3 uc021uxx.1 uc002pqj.3)


    miRNA
    Products:
         
    OriGene 3'-UTR Clone: PNKP
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PNKP
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PNKP
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PNKP (see all 7)
    OriGene shRNA RFP: PNKP
    OriGene siRNA: PNKP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PNKP
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNKP (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNKP (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: PNKP (NM_007254)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PNKP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNKP 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PNKP
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PNKP
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PNKP
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PNKP

    Additional cDNA sequence: 

    AF120499.1 AF125807.1 AF126486.1 BC002519.2 BC009339.2 BC013034.2 BC033822.1 

    17 DOTS entries:

    DT.211706  DT.121429426  DT.100789769  DT.40275406  DT.100789766  DT.121429538  DT.100789779  DT.121429380 
    DT.100769341  DT.100789767  DT.100789780  DT.40202941  DT.95219672  DT.95219688  DT.75102180  DT.95219695 
    DT.121429373 

    24/205 AceView cDNA sequences (see all 205):

    CA433726 BX279591 BP870972 CB529741 CR590331 CR605495 CR612354 BU620478 
    BC002519 CR600664 CR621711 BM052781 BM053079 CR624604 BI765355 BU619715 
    BC033822 BQ008966 BI821496 BC013034 AL042657 BC009339 BM021163 BF314736 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PNKP (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^
    SP1:                          -           -     -           -                                                                                                   
    SP2:                                      -     -           -                                                                                   -     -         
    SP3:                                                        -                                                                                                   
    SP4:                                                        -                                                                                                   
    SP5:                                      -                 -                                                                                                   

    ExUns: 17 ^ 18
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for PNKP

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PNKP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATGGCTACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PNKP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PNKP

    SOURCE GeneReport for Unigene cluster: Hs.78016

    UniProtKB/Swiss-Prot: PNKP_HUMAN, Q96T60
    Tissue specificity: Expressed in many tissues with highest expression in spleen and testis, and lowest expression in
    small intestine (PubMed:10446192). Expressed in higher amount in pancreas, heart and kidney and at lower levels in
    brain, lung and liver (PubMed:10446193)

        SABiosciences Expression via Pathway-Focused PCR Arrays including PNKP: 
              DNA Damage Signaling Pathway in human mouse rat
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PNKP
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PNKP
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PNKP
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PNKP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNKP

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PNKP gene from 8/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pnkp1 , 5 polynucleotide kinase 3'- phosphatase1, 5 79.55(n)1
    81.35(a)1
      7 (28.94 cM)5
    590471  NM_021549.21  NP_067524.21 
     448571395 
    lizard
    (Anolis carolinensis)
    Reptilia PNKP6
    --
    59(a)
    1 ↔ 1
    6(79806890-79817990)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.135652 Xenopus laevis transcribed sequence with weak similarity more 71.77(n)    BJ070151.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1530841 zgc:153084 58.33(n)
    55.44(a)
      569462  NM_001077578.1  NP_001071046.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG96011 , 3 CG96011 40(a)3
    48.87(n)1
    42.45(a)1
      84F133
    409941  NM_141535.31  NP_649792.31 
    worm
    (Caenorhabditis elegans)
    Secernentea F21D5.51 , 3 polynucleotide kinase 3' phosphatase3
    Protein F21D5.51
    45(a)3
    47.22(n)1
    45.97(a)1
      IV(8735986-8739560)3
    1776811  NM_069102.21  NP_501503.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G148906
    bifunctional polynucleotide phosphatase/kinase
    12(a)
    1 ↔ 1
    3(5008742-5013265)
    rice
    (Oryza sativa)
    Liliopsida --
    phosphoesterase, putative, expressed
    16(a)
    1 ↔ 1
    1(30752175-30760175)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PNKP gene
    APTX2  

    PNKP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/249 NCBI SNPs in PNKP are shown (see all 249    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs713533401,2
    C,--46740462(+) CCCCCA/C/GCGAAT 1 -- ds50011NA 2
    rs563515221,2
    --46740576(+) GCTCGC/TGGGCT 1 -- ds50010--------
    rs37392091,2
    C,F,H,--46740764(-) TCCCCA/GCGGGG 1 -- ds50013Minor allele frequency- G:0.01NS 362
    rs37392081,2
    C--46740810(-) TGTTT-/GTTT  
            
    CTCCT
    1 -- ut311Minor allele frequency- GTTT:0.01NS 128
    rs1126356881,2
    C,--46741299(+) CTGTGG/AGGGAA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs37392051,2
    C,F,--46741489(-) CTCTCG/-TGTCC 1 -- int12Minor allele frequency- -:0.03NS CSA 170
    rs1114704321,2
    --46741552(+) GGGAGG/ACAATG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs37392021,2
    C--46741774(-) AGTGTC/TCTGTT 1 -- int11Minor allele frequency- T:0.01NS 180
    rs12906471,2
    C,F,--46742505(+) TCCCCA/C/TCTCCG 1 -- int1 trp312NS MN NA WA CSA EA 731
    rs1127225301,2
    C,--46742587(+) GGAGGG/ACACCC 1 -- int11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for PNKP (50364461 - 50370818 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for PNKP
         2 CNVs: 5114 32261
    Human Gene Mutation Database (HGMD): PNKP

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PNKP
    DNA2.0 Custom Variant and Variant Library Synthesis for PNKP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PNKP for disorders           About GeneDecksing

    OMIM gene information: 605610   
    OMIM disorders: 613402  
    UniProtKB/Swiss-Prot: PNKP_HUMAN, Q96T60
  • Defects in PNKP are the cause of epileptic encephalopathy, early infantile, type 10 (EIEE10) [MIM:613402]. A
  • disease characterized by microcephaly, infantile-onset seizures, severe intellectual disability and delayed motor
    milestones with absent speech or only achieving a few words. Most patients also have behavioral problems with
    hyperactivity. Microcephaly is progressive and without neuronal migration or structural abnormalities, consistent with
    primary microcephaly

    13 diseases for PNKP:    About MalaCards
    microcephaly, seizures, and developmental delay    microcephaly    ataxia-ocular apraxia    seizures
    graft versus host disease    apraxia    intellectual disability    ataxia telangiectasia
    west syndrome    multiple sclerosis    ataxia    adenoma
    malaria

    3 diseases from the University of Copenhagen DISEASES database for PNKP:
    Ohtahara syndrome     Apraxia     DOID:4019
    Human Genome Epidemiology (HuGE) Navigator: PNKP (5 documents)

    Export disorders for PNKP 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)
    About This Section

    PubMed articles for PNKP gene, integrated from 9 sources (see all 75):
    (articles sorted by number of sources associating them with PNKP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage. (PubMed id 10446192)1, 2, 3, 9 Jilani A....Lasko D.D. (1999)
    2. Molecular characterization of a human DNA kinase. (PubMed id 10446193)1, 2, 3 Karimi-Busheri F....Weinfeld M. (1999)
    3. Specific recognition of a multiply phosphorylated motif in the DNA repair scaffold XRCC1 by the FHA domain of human PNK. (PubMed id 19155274)1, 2, 9 Ali A.A....Oliver A.W. (2009)
    4. Mutations in PNKP cause microcephaly, seizures and de fects in DNA repair. (PubMed id 20118933)1, 2 Shen J....Walsh C.A. (2010)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    7. 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. (2004)
    8. AP endonuclease-independent DNA base excision repair in human cells. (PubMed id 15260972)1, 9 Wiederhold L....Hazra T.K. (2004)
    9. Polynucleotide kinase 3' phosphatase variant, dietary variables and risk of adenoma recurrence in the Polyp Prevention Trial. (PubMed id 18414202)1, 9 Murphy G....Lanza E. (2008)
    10. Xrcc4 physically links DNA end processing by polynucleotide kinase to DNA ligation by DNA ligase IV. (PubMed id 15385968)1, 9 Koch C.A....Durocher D. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 11284 HGNC: 9154 AceView: PNKP Ensembl:ENSG00000039650 euGenes: HUgn11284
    ECgene: PNKP H-InvDB: PNKP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PNKP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PNKP Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pnkp/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PNKP gene:
    Search GeneIP for patents involving PNKP

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for PNKP  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PNKP   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PNKP  
     OriGene Protein Over-expression Lysate for PNKP   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for PNKP   OriGene 3'-UTR Clone for PNKP  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNKP   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNKP  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for PNKP   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PNKP   OriGene Custom Protein Services for PNKP  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PNKP
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PNKP
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PNKP
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PNKP
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PNKP
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PNKP
     GenScript Custom Purified and Recombinant Proteins Services for PNKP GenScript cDNA clones with any tag delivered in your preferred vector for PNKP
     GenScript Custom Assay Services for PNKP GenScript Custom Superior Antibodies Services for PNKP
     GenScript Custom overexpressing Cell Line Services for PNKP CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for PNKP  (Pnk1)

     Regulatory tfbs in PNKP promoter
     Search Chromatin IP Primers for PNKP
     RT2 qPCR Primer Assay in human, mouse, rat PNKP
     GNC Network for PNKP
     SABiosciences PCR Arrays including human, mouse, rat PNKP
     Search Tocris compounds for PNKP
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PNKP antibodies
     PNKP proteins
     PNKP lysates
     Search for Antibodies for PNKP at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for PNKP
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     PNKP Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for PNKP
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNKP
     Browse SwitchGear 3'UTR luciferase reporter plasmids for PNKP
     SwitchGear Promoter luciferase reporter plasmids for PNKP
     ThermoFisher Antibodies for PNKP
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNKP
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PNKP gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4