Identity
HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
AMC5,DQ2,DYT1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1861
MIM: 605204
HGNC: 3098
Ensembl: ENSG00000136827
Variants:
dbSNP: 1861
ClinVar: 1861
TCGA: ENSG00000136827
COSMIC: TOR1A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000136827 | ENST00000351698 | O14656 |
| ENSG00000136827 | ENST00000651202 | A0A494BZT7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA449841 | haloperidol | Chemical | MultilinkAnnotation | associated | 27023437 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38438257 | 2024 | RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons. | 1 |
| 38438257 | 2024 | RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons. | 1 |
| 36863527 | 2023 | Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements. | 1 |
| 37165749 | 2023 | Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review. | 1 |
| 36863527 | 2023 | Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements. | 1 |
| 37165749 | 2023 | Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review. | 1 |
| 32662044 | 2021 | Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India. | 1 |
| 33753289 | 2021 | The evolution of dystonia-like movements in TOR1A rats after transient nerve injury is accompanied by dopaminergic dysregulation and abnormal oscillatory activity of a central motor network. | 7 |
| 34949287 | 2021 | TOR1A mutation-related isolated childhood-onset generalised dystonia in South Africa. | 0 |
| 32662044 | 2021 | Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India. | 1 |
| 33753289 | 2021 | The evolution of dystonia-like movements in TOR1A rats after transient nerve injury is accompanied by dopaminergic dysregulation and abnormal oscillatory activity of a central motor network. | 7 |
| 34949287 | 2021 | TOR1A mutation-related isolated childhood-onset generalised dystonia in South Africa. | 0 |
| 31892495 | 2020 | The matter of significance - Has the p.(Glu121Lys) variant of TOR1A gene a pathogenic role in dystonia or Parkinson disease? | 2 |
| 32239467 | 2020 | Impaired differentiation of human induced neural stem cells by TOR1A overexpression. | 2 |
| 32243914 | 2020 | Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia. | 0 |
Citation
Dessen P
TOR1A (torsin family 1 member A)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56306/tor1a-(torsin-family-1-member-a)
