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1861 TOR1A

1861

TOR1A

torsin family 1 member A

protein-coding

Homo sapiens

基因描述

Type Description
Definition torsin family 1 member A

研究结论

Date Results Publications
2021-03-20 13:34:00 Torsin ATPases influence chromatin interaction of the Torsin regulator LAP1. 33320087
2021-03-20 13:26:00 Torsin ATPase deficiency leads to defects in nuclear pore biogenesis and sequestration of MLF2. 32342107
2021-02-20 13:29:00 Impaired differentiation of human induced neural stem cells by TOR1A overexpression. 32239467
2020-08-29 12:45:00 The matter of significance - Has the p.(Glu121Lys) variant of TOR1A gene a pathogenic role in dystonia or Parkinson disease? 31892495
2020-08-01 10:35:00 found that over-expression of mutant torsinA in Medium Spiny Neurons in the corpus striatum produces complex cell-autonomous and non-cell autonomous alterations in nigrostriatal dopaminergic and intrastriatal cholinergic function. 31669362

名称对应

Type IDs
Synonymous DQ2, DYT1
Gene
UniProtKB-ID: TOR1A_HUMAN, B3KPA1_HUMAN
UniprotKB: O14656, B3KPA1
UniParc: UPI00001A82D3, UPI00001370F5, UPI000006FCA4
EMBL: BC000674, AK056062, AF007871, AL158207, BC014484, AK314505, BT006931
Ensembl: ENSG00000136827
KO: hsa:1861
Nucleutide sequences
EMBL-CDS: BAG37105.1, AAH14484.1, AAH00674.1, AAP35577.1, AAC51732.1, BAG51613.1
Ensembl_TRS: ENST00000351698
Protein sequencees
Ensembl_PRO: ENSP00000345719
RefSeq: NP_000104.1
Others
UniRef100: UniRef100_B3KPA1, UniRef100_O14656
UniRef90: UniRef90_Q68G38, UniRef90_O14656
UniRef50: UniRef50_O14656, UniRef50_Q9ER39
UniGene: Hs.534312
CCDS: CCDS6930.1

全选

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研究热度

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