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73754 Thap1

73754

Thap1

THAP domain containing, apoptosis associated protein 1

protein-coding

Mus musculus

基因描述

Type Description
Definition THAP domain containing, apoptosis associated protein 1

研究结论

Date Results Publications
2018-06-23 11:09:00 Dysfunction in similar pathways occurring with mutations in THAP1 as well as diverse dystonia genes highlight a point of convergence in the pathophysiology of several forms of inherited dystonia. 29364887
2018-05-05 10:47:00 Wild-type THAP1 regulates embryonic stem cell (ESC) potential, survival, and proliferation. Loss of THAP1 or replacement with a disease-causing mutation results in an enhanced rate of cell death, prolongs Nanog, Prdm14, and/or Rex1 expression upon differentiation, and results in failure to upregulate ectodermal genes. 28579396
2017-09-30 12:56:00 These studies establish a role for THAP1 transcriptional regulation at the inception of myelination and implicate abnormal timing of myelination in the pathogenesis of childhood-onset dystonia. 28697333

名称对应

Type IDs
Synonymous 4833431A01Rik, AW490810
Gene
UniProtKB-ID: THAP1_MOUSE
UniprotKB: Q8CHW1
UniParc: UPI00000240FA
EMBL: BC038639
Ensembl: ENSMUSG00000037214
KO: mmu:73754
Nucleutide sequences
EMBL-CDS: AAH38639.1
Ensembl_TRS: ENSMUST00000036807
Protein sequencees
Ensembl_PRO: ENSMUSP00000042464
RefSeq: NP_950243.1
Others
UniRef100: UniRef100_Q8CHW1
UniRef90: UniRef90_Q8CHW1
UniRef50: UniRef50_Q9NVV9
UniGene: Mm.383241
CCDS: CCDS22208.1

全选

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研究热度

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