Type | Description |
---|---|
Definition | torsin family 1 member A |
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 |
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
|
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Refseq |
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