Aliases for PNKP Gene
Aliases for PNKP Gene
External Ids for PNKP Gene
- HGNC: 9154
- Entrez Gene: 11284
- Ensembl: ENSG00000039650
- OMIM: 605610
- UniProtKB: Q96T60
Previous GeneCards Identifiers for PNKP Gene
- GC19M051022
- GC19M050732
- GC19M055040
- GC19M055056
- GC19M050364
- GC19M046740
Summaries 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 Microcephaly, Seizures, And Developmental Delay. Among its related pathways are DNA damage_NHEJ mechanisms of DSBs repair and Telomere C-strand (Lagging Strand) Synthesis. Gene Ontology (GO) annotations related to this gene include double-stranded DNA binding and endonuclease activity. An important paralog of this gene is APTX.
UniProtKB/Swiss-Prot 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.
Additional gene information for PNKP Gene
- Monarch Initiative
- Search for PNKP at DataMed
- Search for PNKP at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNKP Gene
Genomics for PNKP Gene
GeneHancer (GH) Regulatory Elements for PNKP Gene
Promoters and enhancers for PNKP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PNKP on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PNKP gene promoter:
Regulatory Element Products
Genomic Locations for PNKP Gene
Genomic Locations for PNKP Gene
- chr19:49,859,882-49,878,351
- (GRCh38/hg38)
- Size:
- 18,470 bases
- Orientation:
- Minus strand
- chr19:50,364,460-50,371,166
- (GRCh37/hg19)
Genomic View for PNKP Gene
Genes around PNKP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by Ensembl
- 19q13.33 by Entrez Gene
- 19q13.33 by HGNC
PNKP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PNKP Gene
Proteins for PNKP Gene
-
Protein details for PNKP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96T60-PNKP_HUMAN
- Recommended name:
- Bifunctional polynucleotide phosphatase/kinase
- Protein Accession:
- Q96T60
- 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; Positions=Several; Evidence={ECO:0000305};
Protein Expression for PNKP Gene
Post-translational modifications for PNKP Gene
No Post-translational modifications
Other Protein References for PNKP Gene
- ENSEMBL proteins:
-
- ENSP00000468896
- ENSP00000469826
- ENSP00000469848
- ENSP00000470346
- ENSP00000470887
- ENSP00000471097
- ENSP00000472300
- ENSP00000473137
- ENSP00000486037
- ENSP00000486500
- ENSP00000486707
- ENSP00000486898
- ENSP00000489771
- ENSP00000489983
- ENSP00000490539
- ENSP00000490737
- ENSP00000490791
- ENSP00000491347
- ENSP00000323511
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for PNKP (Pnk1)
-
Custom Antibody ServicesOriGene Antibodies for PNKP
- Novus Biologicals Antibodies for PNKP
-
Abcam antibodies for PNKP
- Invitrogen Antibodies for PNKP
- GeneTex PNKP antibody for PNKP
-
Santa Cruz Biotechnology (SCBT) Antibodies for PNKP
Protein Products
-
OriGene Purified Proteins for PNKP
- Search Origene for MassSpec and Protein Over-expression Lysates for PNKP
- Origene Custom Protein Services for PNKP
- Search GeneTex for Proteins for PNKP
-
Abcam proteins for PNKP
Assay Products
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
Suggested Antigen Peptide Sequences for PNKP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96T60UniProtKB/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.
Function for PNKP Gene
Molecular function for PNKP Gene
- GENATLAS Biochemistry:
- polynucleotide kinase-3 phosphatase,facilitating DNA repair of DNA strand breaks caused by oxidative damage
- UniProtKB/Swiss-Prot CatalyticActivity:
- A 3-phosphopolynucleotide + H(2)O = a polynucleotide + phosphate.
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + 5-dephospho-DNA = ADP + 5-phospho-DNA.
- 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.
Phenotypes From GWAS Catalog for PNKP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003684 | damaged DNA binding | NAS | 10446193 |
| GO:0003690 | double-stranded DNA binding | TAS | 10446193 |
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004519 | endonuclease activity | NAS | 10446192 |
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for PNKP Gene
- MGI mutant phenotypes for PNKP:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for PNKP:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability after Maraba virus infection
- Decreased IL-8 secretion
- Synthetic lethal with vaccinia virus (VACV) infection
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased viability
- Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor
- Decreased telomerase activity
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PNKP
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PNKP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PNKP gene
- Search ViGene Biosciences for PNKP
CRISPR Products
-
OriGene CRISPR knockouts for PNKP
- genomics-online: gRNA clones - Search results for 121 available PNKP gene related products
- Overview of 121 available PNKP gene related products
- Applied Biological Materials CRISPR for PNKP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PNKP
- GenScript: Design CRISPR guide RNA sequences for PNKP
miRNA for PNKP Gene
- miRTarBase miRNAs that target PNKP
miRNA Products
- Search ViGene Biosciences for PNKP
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PNKP
- Browse OriGene Inhibitory RNA Products For PNKP
- genomics-online: shRNA clones - Search results for 121 available PNKP gene related products
- Overview of 121 available PNKP gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PNKP gene
Clone Products
- Sino Biological Human cDNA Clone for PNKP
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PNKP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PNKP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PNKP
- Applied Biological Materials Clones for PNKP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PNKP
-
ViGene Biosciences adenoviral particle packaged cDNA for PNKP gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PNKP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PNKP gene
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 2 |
| cytosol | 2 |
| peroxisome | 1 |
- Nucleoli (3)
- Nucleus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 10446193 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0016020 | membrane | IDA,HDA | 19946888 |
Pathways & Interactions for PNKP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Telomere C-strand (Lagging Strand) Synthesis | ||
| 2 | DNA Damage | ||
| 3 | Chks in Checkpoint Regulation | ||
| 4 | DNA Double-Strand Break Repair |
.53
|
|
| 5 | DNA damage_NHEJ mechanisms of DSBs repair | ||
Pathways by source for PNKP Gene
1 Cell Signaling Technology pathway for PNKP Gene
1 GeneGo (Thomson Reuters) pathway for PNKP Gene
1 Qiagen pathway for PNKP Gene
Interacting Proteins for PNKP Gene
Selected Interacting proteins:
ENSP00000323511
Q96T60-PNKP_HUMAN
for PNKP Gene via
STRING
MINT
UniProtKB
IID
| 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 | IGI | 10446192 |
| GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
| GO:0006979 | response to oxidative stress | IDA | 10446192 |
Drugs & Compounds for PNKP Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
||
| Phosphate |
|
14265-44-2 |
|
Transcripts for PNKP Gene
mRNA/cDNA for PNKP Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (205) Selected AceView cDNA sequences:
- (31) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PNKP Gene
CRISPR Products
-
OriGene CRISPR knockouts for PNKP
- genomics-online: gRNA clones - Search results for 121 available PNKP gene related products
- Overview of 121 available PNKP gene related products
- Applied Biological Materials CRISPR for PNKP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PNKP
- GenScript: Design CRISPR guide RNA sequences for PNKP
miRNA Products
- Search ViGene Biosciences for PNKP
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PNKP
- Browse OriGene Inhibitory RNA Products For PNKP
- genomics-online: shRNA clones - Search results for 121 available PNKP gene related products
- Overview of 121 available PNKP gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PNKP gene
Clone Products
- Sino Biological Human cDNA Clone for PNKP
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PNKP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PNKP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PNKP
- Applied Biological Materials Clones for PNKP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression 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, PaxDb, MaxQB, and MOPED for PNKP Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PNKP Gene:
PNKPSOURCE GeneReport for Unigene cluster for PNKP Gene:
Hs.78016mRNA 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
- Liver(4.2)
- Blood(4.1)
- Nervous system(2.7)
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
Primer Products
-
OriGene qPCR primer pairs and template standards for PNKP
-
OriGene qPCR primer pairs for PNKP
- genomics-online: primer clones - Search results for 121 available PNKP gene related products
- Overview of 121 available PNKP gene related products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PNKP 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | PNKP 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | PNKP 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pnkp 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pnkp 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PNKP 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PNKP 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PNKP 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pnkp 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.13565 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pnkp 33 34 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5541 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG9601 35 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | F21D5.5 35 33 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HNT3 34 |
|
OneToMany | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU08151 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pnk1 33 |
|
- Species where no ortholog for PNKP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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)
Paralogs for PNKP Gene
(1) SIMAP similar genes for PNKP Gene using alignment to 7 proteins:
Variants for PNKP Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1050332 | benign, uncertain-significance, not specified, Early infantile epileptic encephalopathy 10 | 49,861,233(-) | G/A | 3_prime_UTR_variant | |
| rs1055654261 | likely-benign, Early infantile epileptic encephalopathy 12 | 49,861,704(-) | G/A/T | intron_variant | |
| rs1060502500 | uncertain-significance, Early infantile epileptic encephalopathy 12 | 49,861,835(-) | G/A | coding_sequence_variant, missense_variant | |
| rs1060504641 | likely-benign, Early infantile epileptic encephalopathy 12 | 49,861,834(-) | G/A/C/T | coding_sequence_variant, synonymous_variant | |
| rs1060504642 | likely-benign, Early infantile epileptic encephalopathy 12 | 49,861,517(-) | G/A/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv9739 | CNV | gain+loss | 18304495 |
| nsv953600 | CNV | deletion | 24416366 |
| nsv526372 | CNV | loss | 19592680 |
| nsv524068 | CNV | loss | 19592680 |
| nsv1140251 | OTHER | inversion | 24896259 |
| esv3644629 | CNV | loss | 21293372 |
| esv3644628 | CNV | gain | 21293372 |
| esv2677406 | CNV | deletion | 23128226 |
| dgv54n68 | CNV | loss | 17160897 |
| dgv53n68 | CNV | loss | 17160897 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNKP Gene
Disorders for PNKP Gene
(6) MalaCards diseases for PNKP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ataxia-oculomotor apraxia 4 |
|
|
| microcephaly, seizures, and developmental delay |
|
|
| epileptic encephalopathy, early infantile, 15 |
|
|
| apraxia |
|
|
| microcephaly |
|
|
Search PNKP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PNKP_HUMAN- 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 mutations affecting the gene represented in this entry.
- 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 mutations affecting the gene represented in this entry.
Additional Disease Information for PNKP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PNKP Gene
Publications for PNKP Gene
- 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 58
- 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 58
- 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 44 58
- Molecular characterization of a human DNA kinase. (PMID: 10446193) Karimi-Busheri F … Weinfeld M (The Journal of biological chemistry 1999) 2 3 4 58
- Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. (PMID: 27232581) Nair P … Bastaki F (American journal of medical genetics. Part A 2016) 3 4 58
Products for PNKP Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
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- Custom Antibody ServicesOriGene Antibodies for PNKP
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PNKP
- Search Origene for MassSpec and Protein Over-expression Lysates for PNKP
- Origene Custom Protein Services for PNKP
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PNKP
- Browse OriGene Inhibitory RNA Products For PNKP
- OriGene qPCR primer pairs and template standards for PNKP
- OriGene qPCR primer pairs for PNKP
- OriGene CRISPR knockouts for PNKP
- OriGene ORF clones in human for PNKP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PNKP
- GenScript: Next-day shipping of latest version cDNA ORF clones for PNKP in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PNKP
- GenScript Custom Assay Services for PNKP
- GenScript Custom overexpressing Cell Line Services for PNKP
- GenScript: Design CRISPR guide RNA sequences for PNKP
- Design optimal peptide antigens
- 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
- GenScript Custom Peptide Services for PNKP
- Cell Signaling Technology (CST) Antibodies for PNKP (Pnk1)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for PNKP
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
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- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for PNKP
- Novus Biologicals lysates and proteins for PNKP
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for PNKP
- Abcam proteins for PNKP
- Find your target
- Browse Primary Antibodies
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- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
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- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for PNKP
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for PNKP
- VectorBuilder custom plasmid, inducible vectors for PNKP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PNKP
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PNKP
- antibodies-online: Search results for 56 available PNKP Antibodies ranked by validation data
- Compare Top PNKP Antibodies
- antibodies-online: Search results for 2 available PNKP Elisa Kits ranked by validation data
- Compare Top PNKP Elisa Kits
- antibodies-online: Search results for 9 available PNKP Proteins ranked by validation data
- Compare Top PNKP Proteins
- GeneTex PNKP antibody for PNKP
- Search GeneTex for Proteins for PNKP
- ViGene Biosciences adenoviral particle packaged cDNA for PNKP gene
- ViGene Biosciences lentiviral particle packaged cDNA for PNKP gene
- ViGene Biosciences ready-to-package AAV shRNAs for PNKP gene
- Search ViGene Biosciences for PNKP
- Santa Cruz Biotechnology (SCBT) Antibodies for PNKP
- Search Santa Cruz Biotechnology (SCBT) for PNKP siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PNKP
- Horizon Cell Lines for PNKP
- genomics-online: cdna clones - Search results for 121 available PNKP gene related products
- Overview of 121 available PNKP gene related products
- orf clones - Search results for 121 available PNKP gene related products
- Overview of 121 available PNKP gene related products
- genomics-online: gRNA clones - Search results for 121 available PNKP gene related products
- Overview of 121 available PNKP gene related products
- genomics-online: primer clones - Search results for 121 available PNKP gene related products
- Overview of 121 available PNKP gene related products
- genomics-online: shRNA clones - Search results for 121 available PNKP gene related products
- Overview of 121 available PNKP gene related products
Sources for PNKP Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138)