PNKP (polynucleotide kinase 3-phosphatase)

2004-04-01  

Identity

HGNC
PNKP
LOCATION
19q13.33
LOCUSID
11284
ALIAS
AOA4,CMT2B2,EIEE10,MCSZ,PNK

Other Information

Locus ID:

NCBI: 11284
MIM: 605610
HGNC: 9154
Ensembl: ENSG00000039650

Variants:

dbSNP: 11284
ClinVar: 11284
TCGA: ENSG00000039650
COSMIC: PNKP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000039650ENST00000322344Q96T60
ENSG00000039650ENST00000593946M0QX49
ENSG00000039650ENST00000596014Q96T60
ENSG00000039650ENST00000596726M0R000
ENSG00000039650ENST00000597965M0R097
ENSG00000039650ENST00000598020M0QX49
ENSG00000039650ENST00000599543M0QYI1
ENSG00000039650ENST00000600573M0QYH2
ENSG00000039650ENST00000600910M0R3C8
ENSG00000039650ENST00000625216A0A0D9SFU1
ENSG00000039650ENST00000627232A0A0D9SEV0
ENSG00000039650ENST00000627317A0A0D9SFD6
ENSG00000039650ENST00000631020A0A0D9SFL2
ENSG00000039650ENST00000636214A0A1B0GU66
ENSG00000039650ENST00000636840A0A1B0GW17
ENSG00000039650ENST00000636994A0A1B0GW61
ENSG00000039650ENST00000637897A0A1B0GVJ3
ENSG00000039650ENST00000640501A0A1W2PP58

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
DNA RepairREACTOMER-HSA-73894
Base Excision RepairREACTOMER-HSA-73884
Resolution of Abasic Sites (AP sites)REACTOMER-HSA-73933
APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement PathwayREACTOMER-HSA-5649702

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382244552024Site-specific acetylation of polynucleotide kinase 3'-phosphatase regulates its distinct role in DNA repair pathways.1
382244552024Site-specific acetylation of polynucleotide kinase 3'-phosphatase regulates its distinct role in DNA repair pathways.1
370610052023Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans.3
370610052023Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans.3
354123442022Zika Virus Induces Mitotic Catastrophe in Human Neural Progenitors by Triggering Unscheduled Mitotic Entry in the Presence of DNA Damage While Functionally Depleting Nuclear PNKP.7
354123442022Zika Virus Induces Mitotic Catastrophe in Human Neural Progenitors by Triggering Unscheduled Mitotic Entry in the Presence of DNA Damage While Functionally Depleting Nuclear PNKP.7
332205512021The FHA domain of PNKP is essential for its recruitment to DNA damage sites and maintenance of genome stability.8
334686572021PIAS1 modulates striatal transcription, DNA damage repair, and SUMOylation with relevance to Huntington's disease.20
342479722021Characteristics of epilepsy secondary to mutations in the PNKP gene.0
332205512021The FHA domain of PNKP is essential for its recruitment to DNA damage sites and maintenance of genome stability.8
334686572021PIAS1 modulates striatal transcription, DNA damage repair, and SUMOylation with relevance to Huntington's disease.20
342479722021Characteristics of epilepsy secondary to mutations in the PNKP gene.0
322054412020Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis.18
325044942020Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.14
329807442020The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.2

Citation

Dessen P

PNKP (polynucleotide kinase 3-phosphatase)

Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

Online version: http://atlasgeneticsoncology.org/gene/41764