PNKP Gene (Protein Coding)

Polynucleotide Kinase 3'-Phosphatase

GC19M049861
GIFtS:
46
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] See more...

Aliases for PNKP Gene

Aliases for PNKP Gene

  • Polynucleotide Kinase 3'-Phosphatase 2 3 5
  • Bifunctional Polynucleotide Phosphatase/Kinase 3 4
  • DNA 5'-Kinase/3'-Phosphatase 3 4
  • PNK 2 3
  • Homo Sapiens Polynucleotide Kinase 3'-Phosphatase (PNKP) 3
  • Polynucleotide Kinase-3'-Phosphatase 4
  • CMT2B2 3
  • EIEE10 3
  • AOA4 3
  • MCSZ 3
  • PNKP 5

External Ids for PNKP Gene

Previous GeneCards Identifiers for PNKP Gene

  • GC19M051022
  • GC19M050732
  • GC19M055040
  • GC19M055056
  • GC19M050364
  • GC19M046740

Summaries for PNKP Gene

Entrez Gene Summary for PNKP Gene

  • 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]

GeneCards Summary for PNKP Gene

PNKP (Polynucleotide Kinase 3'-Phosphatase) is a Protein Coding gene. Diseases associated with PNKP include Ataxia-Oculomotor Apraxia 4 and Charcot-Marie-Tooth Disease, Axonal, Type 2B2. Among its related pathways are DNA Double-Strand Break Repair and DNA damage_NHEJ mechanisms of DSBs repair. Gene Ontology (GO) annotations related to this gene include double-stranded DNA binding and endonuclease activity.

UniProtKB/Swiss-Prot Summary for PNKP Gene

  • 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 Gene

Additional gene information for PNKP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PNKP Gene

Genomics for PNKP Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PNKP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNKP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PNKP

Top Transcription factor binding sites by QIAGEN in the PNKP gene promoter:
  • p53
  • Sp1
  • SREBP-1c

Genomic Locations for PNKP Gene

Latest Assembly
chr19:49,859,882-49,878,351
(GRCh38/hg38)
Size:
18,470 bases
Orientation:
Minus strand

Previous Assembly
chr19:50,364,461-50,370,833
(GRCh37/hg19 by Entrez Gene)
Size:
6,373 bases
Orientation:
Minus strand

chr19:50,364,461-50,371,166
(GRCh37/hg19 by Ensembl)
Size:
6,706 bases
Orientation:
Minus strand

Genomic View for PNKP Gene

Genes around PNKP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNKP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNKP Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PNKP Gene

Proteins for PNKP Gene

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  • Protein details for PNKP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T60-PNKP_HUMAN
    Recommended name:
    Bifunctional polynucleotide phosphatase/kinase
    Protein Accession:
    Q96T60
    Secondary Accessions:
    • Q9BUL2
    • Q9P1V2
    • Q9UKU8
    • Q9UNF8
    • Q9UNI0

    Protein attributes for PNKP Gene

    Size:
    521 amino acids
    Molecular mass:
    57076 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAD47379.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PNKP Gene

    Alternative splice isoforms for PNKP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNKP Gene

Protein Expression for PNKP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PNKP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PNKP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PNKP Gene

Domains & Families for PNKP Gene

Gene Families for PNKP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PNKP Gene

InterPro:
Blocks:
  • Polynucleotide kinase 3 phosphatase, central region

Suggested Antigen Peptide Sequences for PNKP Gene

GenScript: Design optimal peptide antigens:
  • Polynucleotide kinase-3'-phosphatase (PNKP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96T60

UniProtKB/Swiss-Prot:

PNKP_HUMAN :
  • 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.
  • In the N-terminal section; belongs to the DNA 3' phosphatase family.
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.
Family:
  • In the N-terminal section; belongs to the DNA 3' phosphatase family.
genes like me logo Genes that share domains with PNKP: view

Function for PNKP Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for PNKP Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(DNA)-3'-(deoxyribonucleoside 3',5'-bisphosphate) + H2O = (DNA)-3'-(deoxyribonucleoside 5'-phosphate) + phosphate; Xref=Rhea:RHEA:14113, Rhea:RHEA-COMP:13863, Rhea:RHEA-COMP:13864, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:138147, ChEBI:CHEBI:138148; EC=3.1.3.32;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5'-dephospho-(DNA) + ATP = ADP + H(+) + phospho-5'-(DNA); Xref=Rhea:RHEA:15669, Rhea:RHEA-COMP:13180, Rhea:RHEA-COMP:13184, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:136412, ChEBI:CHEBI:136416, ChEBI:CHEBI:456216; EC=2.7.1.78;.
GENATLAS Biochemistry:
polynucleotide kinase-3 phosphatase,facilitating DNA repair of DNA strand breaks caused by oxidative damage

Phenotypes From GWAS Catalog for PNKP Gene

Gene Ontology (GO) - Molecular Function for PNKP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003684 damaged DNA binding NAS 10446193
GO:0003690 double-stranded DNA binding IBA,TAS 10446193
GO:0003824 catalytic activity IEA --
GO:0004519 endonuclease activity NAS 10446192
genes like me logo Genes that share ontologies with PNKP: view
genes like me logo Genes that share phenotypes with PNKP: view

Human Phenotype Ontology for PNKP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

miRNA for PNKP Gene

miRTarBase miRNAs that target PNKP

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNKP

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PNKP Gene

Localization for PNKP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNKP Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNKP gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PNKP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 10446193
GO:0005654 nucleoplasm IDA,TAS --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IEA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with PNKP: view

Pathways & Interactions for PNKP Gene

genes like me logo Genes that share pathways with PNKP: view

Pathways by source for PNKP Gene

1 GeneGo (Thomson Reuters) pathway for PNKP Gene
  • DNA damage_NHEJ mechanisms of DSBs repair
1 Qiagen pathway for PNKP Gene
  • DNA Repair Mechanisms
1 Cell Signaling Technology pathway for PNKP Gene

SIGNOR curated interactions for PNKP Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PNKP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000718 nucleotide-excision repair, DNA damage removal NAS 10446193
GO:0006261 DNA-dependent DNA replication NAS 10446192
GO:0006281 DNA repair IEA,IGI 10446192
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0006979 response to oxidative stress IDA 10446192
genes like me logo Genes that share ontologies with PNKP: view

Drugs & Compounds for PNKP Gene

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(4) Drugs for PNKP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(4) Additional Compounds for PNKP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
genes like me logo Genes that share compounds with PNKP: view

Transcripts for PNKP Gene

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mRNA/cDNA for PNKP Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
31 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNKP

Alternative Splicing Database (ASD) splice patterns (SP) for PNKP Gene

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: - -
SP6: - - - - - - -
SP7:
SP8: - - -
SP9: - -

ExUns: 17 ^ 18
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for PNKP Gene

GeneLoc Exon Structure for
PNKP

Expression for PNKP Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PNKP Gene

mRNA expression in normal human tissues for PNKP Gene
mRNA expression by BioGPS for PNKP GenemRNA expression by GTEx for PNKP Gene

Protein differential expression in normal tissues from HIPED for PNKP Gene

This gene is overexpressed in Heart (15.5), Lymph node (11.2), and Peripheral blood mononuclear cells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PNKP Gene



Protein tissue co-expression partners for PNKP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PNKP

SOURCE GeneReport for Unigene cluster for PNKP Gene:

Hs.78016

mRNA Expression by UniProt/SwissProt for PNKP Gene:

Q96T60-PNKP_HUMAN
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).

Evidence on tissue expression from TISSUES for PNKP Gene

  • Blood(4.4)
  • Liver(4.3)
  • Nervous system(3.1)
  • Skin(2.1)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PNKP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PNKP: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PNKP Gene

Orthologs for PNKP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PNKP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PNKP 29 30
  • 98.82 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PNKP 29 30
  • 86.53 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PNKP 29 30
  • 84.84 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pnkp 29
  • 80.45 (n)
Mouse
(Mus musculus)
 Mammalia Pnkp 29 16 30
  • 79.55 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PNKP 30
  • 76 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PNKP 30
  • 64 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PNKP 30
  • 53 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pnkp 29
  • 58.19 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.13565 29
Zebrafish
(Danio rerio)
 Actinopterygii pnkp 29 30
  • 59.62 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5541 29
Fruit Fly
(Drosophila melanogaster)
 Insecta CG9601 29 30 31
  • 48.86 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea F21D5.5 29 30 31
  • 47.57 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HNT3 30
  • 7 (a)
 OneToMany
Bread mold
(Neurospora crassa)
 Ascomycetes NCU08151 29
  • 50.15 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes pnk1 29
  • 44.8 (n)
Species where no ortholog for PNKP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PNKP Gene

ENSEMBL:
Gene Tree for PNKP (if available)
TreeFam:
Gene Tree for PNKP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PNKP: view image
Alliance of Genome Resources:
Additional Orthologs for PNKP

Paralogs for PNKP Gene

(1) SIMAP similar genes for PNKP Gene using alignment to 7 proteins:

  • PNKP_HUMAN
  • M0QX49_HUMAN
  • M0QYH2_HUMAN
  • M0QYI1_HUMAN
  • M0R000_HUMAN
  • M0R097_HUMAN
  • M0R3C8_HUMAN
genes like me logo Genes that share paralogs with PNKP: view

No data available for Paralogs for PNKP Gene

Variants for PNKP Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PNKP Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1000951 Uncertain Significance: Early infantile epileptic encephalopathy 12 49,863,711(-) A/G
NM_007254.4(PNKP):c.794T>C (p.Met265Thr) 		MISSENSE
1002852 Uncertain Significance: Early infantile epileptic encephalopathy 12 49,861,669(-) C/T
NM_007254.4(PNKP):c.1325G>A (p.Gly442Asp) 		MISSENSE
1003543 Uncertain Significance: Early infantile epileptic encephalopathy 12 49,861,624(-) G/A
NM_007254.4(PNKP):c.1370C>T (p.Ala457Val) 		MISSENSE
1003658 Uncertain Significance: Early infantile epileptic encephalopathy 12 49,861,320(-) G/C
NM_007254.4(PNKP):c.1494C>G (p.Ile498Met) 		MISSENSE
1003736 Uncertain Significance: Early infantile epileptic encephalopathy 12 49,865,129(-) T/G
NM_007254.4(PNKP):c.496A>C (p.Lys166Gln) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PNKP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PNKP Gene

Variant ID Type Subtype PubMed ID
dgv53n68 CNV loss 17160897
dgv54n68 CNV loss 17160897
esv2677406 CNV deletion 23128226
esv3644628 CNV gain 21293372
esv3644629 CNV loss 21293372
nsv1140251 OTHER inversion 24896259
nsv524068 CNV loss 19592680
nsv526372 CNV loss 19592680
nsv953600 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for PNKP Gene

Residual Variation Intolerance Score: 65.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.73; 57.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNKP Gene

Human Gene Mutation Database (HGMD)
PNKP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNKP
Leiden Open Variation Database (LOVD)
PNKP

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNKP Gene

Disorders for PNKP Gene

MalaCards: The human disease database

(28) MalaCards diseases for PNKP Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search PNKP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PNKP_HUMAN
  • Microcephaly, seizures, and developmental delay (MCSZ) [MIM:613402]: A disease characterized by infantile-onset seizures, microcephaly, 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. {ECO:0000269 PubMed:20118933, ECO:0000269 PubMed:27232581}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Ataxia-oculomotor apraxia 4 (AOA4) [MIM:616267]: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. {ECO:0000269 PubMed:25728773}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PNKP

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PNKP: view

No data available for Genatlas for PNKP Gene

Publications for PNKP Gene

  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. (PMID: 10446192) Jilani A … Lasko DD (The Journal of biological chemistry 1999) 2 3 4 22
  2. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. (PMID: 25728773) Bras J … Guerreiro R (American journal of human genetics 2015) 3 4 72
  3. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. (PMID: 20118933) Shen J … Walsh CA (Nature genetics 2010) 3 4 72
  4. Specific recognition of a multiply phosphorylated motif in the DNA repair scaffold XRCC1 by the FHA domain of human PNK. (PMID: 19155274) Ali AA … Oliver AW (Nucleic acids research 2009) 3 4 22
  5. Polynucleotide kinase 3' phosphatase variant, dietary variables and risk of adenoma recurrence in the Polyp Prevention Trial. (PMID: 18414202) Murphy G … Lanza E (European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2008) 3 22 40

ExternalLinks

View latest publications for PNKP gene in Mastermind

Products for PNKP Gene

  • Addgene plasmids for PNKP

Sources for PNKP Gene