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11284 PNKP

11284

PNKP

polynucleotide kinase 3'-phosphatase

protein-coding

Homo sapiens

基因描述

Type Description
Definition polynucleotide kinase 3'-phosphatase

研究结论

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

名称对应

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

全选

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