| Type | Description |
|---|---|
| Definition | THAP domain containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-23 13:01:00 | Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia. | 32112337 |
| 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 |
| 2018-03-10 10:37:00 | The region of amino acids 139-185 is involved in formation of THAP1 homodimers. | 28299530 |
| 2018-01-13 14:26:00 | We functionally characterized for the first time three dystonia-causing missense variants (p.N136K, p.N136S and p.Y137C) within the HBM in the C-terminal region of THAP1. Dystonia-causing mutations affecting the residues N136 and Y137 in THAP1 significantly reduced HCFC1 recruitment to all four tested promoter regions. | 28486698 |
| 2017-11-04 11:04:00 | that the THAP1 is likely to have a causative role in the pathogenesis of Indian primary pure dystonia patients | 27913194 |
| Type | IDs |
|---|---|
| Synonymous | DYT6 |
| Gene |
UniProtKB-ID:
THAP1_HUMAN
UniprotKB:
Q9NVV9
UniParc:
UPI0000231C95,
UPI000007035E
EMBL:
AK001339,
CH471080,
AK223231,
BC021721,
CR457256,
AC087533,
AL832077
Ensembl:
ENSG00000131931
KO:
hsa:55145
|
| Nucleutide sequences |
EMBL-CDS:
EAW63205.1,
EAW63206.1,
AAH21721.1,
BAD96951.1,
CAG33537.1,
BAA91635.1
Ensembl_TRS:
ENST00000345117,
ENST00000254250
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000344966,
ENSP00000254250
RefSeq:
NP_945354.1,
NP_060575.1
|
| Others |
UniRef100:
UniRef100_Q9NVV9
UniRef90:
UniRef90_Q9NVV9
UniRef50:
UniRef50_Q9NVV9
UniGene:
Hs.7432
CCDS:
CCDS6137.1,
CCDS6136.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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