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
201189332010Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.95
213537812011Tidying up loose ends: the role of polynucleotide kinase/phosphatase in DNA strand break repair.74
120320952002Involvement of human polynucleotide kinase in double-strand break repair by non-homologous end joining.69
191552742009Specific recognition of a multiply phosphorylated motif in the DNA repair scaffold XRCC1 by the FHA domain of human PNK.38
221306632012Role of human DNA glycosylase Nei-like 2 (NEIL2) and single strand break repair protein polynucleotide kinase 3'-phosphatase in maintenance of mitochondrial genome.36
257287732015Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.34
163643632006Involvement of polynucleotide kinase in a poly(ADP-ribose) polymerase-1-dependent DNA double-strand breaks rejoining pathway.31
208522552010Dual modes of interaction between XRCC4 and polynucleotide kinase/phosphatase: implications for nonhomologous end joining.31
232242142013Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.27
176388722007Human polynucleotide kinase participates in repair of DNA double-strand breaks by nonhomologous end joining but not homologous recombination.24

Citation

Dessen P

PNKP (polynucleotide kinase 3-phosphatase)

Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

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