Type | Description |
---|---|
Definition | polynucleotide kinase 3'-phosphatase |
Date | Results | Publications |
---|---|---|
2021-01-16 16:01:00 | Mutational survivorship bias: The case of PNKP. | 33332469 |
2020-09-12 16:06:00 | Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair. | 32504494 |
2020-07-25 12:59:00 | Study provides evidence that wild-type ATXN3 plays an important role in error-free repair of DNA double-strand breaks in the transcribed genes. In contrast, mutant ATXN3 blocks the activity of a DNA end-processing enzyme, polynucleotide kinase 3'-phosphatase (PNKP), leading to progressive accumulation of double-strand breaks and abrogation of global transcription. | 32205441 |
2020-02-29 10:30:00 | The authors report that HTT forms a transcription-coupled DNA repair (TCR) complex with RNA polymerase II subunit A (POLR2A), ataxin-3, the DNA repair enzyme polynucleotide-kinase-3'-phosphatase (PNKP), and cyclic AMP-response element-binding (CREB) protein (CBP). This complex senses and facilitates DNA damage repair during transcriptional elongation, but its functional integrity is impaired by mutant HTT. | 30994454 |
2019-10-05 12:17:00 | Our results may hence improve the understanding of the mechanisms associated with DNA repair and fetaldevelopment in PNKP-associated disorders. | 29243230 |
Type | IDs |
---|---|
Synonymous | AOA4, EIEE10, MCSZ, PNK |
Gene |
UniProtKB-ID:
PNKP_HUMAN
UniprotKB:
Q96T60
UniParc:
UPI00000705EA,
UPI00001A3E31
EMBL:
AF125807,
AF126486,
AF120499,
BC002519,
AF354258,
BC033822,
AY133033,
AC018766
Ensembl:
ENSG00000039650
KO:
hsa:11284
|
Nucleutide sequences |
EMBL-CDS:
AAM82170.1,
AAK57340.1,
AAF44716.1,
AAH33822.1,
AAD50639.1,
AAD47379.1,
AAH02519.2,
AAD51135.1
Ensembl_TRS:
ENST00000322344,
ENST00000596014
|
Protein sequencees |
Ensembl_PRO:
ENSP00000323511,
ENSP00000472300
RefSeq:
NP_009185.2
|
Others |
UniRef100:
UniRef100_Q96T60
UniRef90:
UniRef90_Q96T60
UniRef50:
UniRef50_Q96T60
UniGene:
Hs.78016
CCDS:
CCDS12783.1
|
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