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Tbio
TOR1A
Torsin-1A

Protein Classes
Protein Summary
Description
Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000351698
  • ENSP00000345719
  • ENSG00000136827

Symbol
  • DQ2
  • DYT1
  • TA
  • TORA
  • DQ2
  • DYT1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
0.96
biological term
0.87
cellular component
0.87
biological process
0.85
kinase perturbation
0.71


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1929.24   (req: < 5)
Gene RIFs: 139   (req: <= 3)
Antibodies: 247   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1929.24   (req: >= 5)
Gene RIFs: 139   (req: > 3)
Antibodies: 247   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 25
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
serum alanine aminotransferase measurement
2
1
1
5.6
64.9
1
1
0
1.1
35
liver fat measurement
1
1
1
29
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
serum alanine aminotransferase measurement
1
5.6
64.9
0
1.1
35
liver fat measurement
1
29
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
torsin family 1 member A
VGNC:8944
742691
Mouse
MGI:1353568
30931
Rat
RGD:628863
266606
Dog
torsin family 1 member A
VGNC:47713
491296
Horse
torsin family 1 member A [Source:HGNC Symbol;Acc:HGNC:3098]
Species
Name
OMA
EggNOG
Inparanoid
Chimp
torsin family 1 member A
Mouse
Rat
Dog
torsin family 1 member A
Horse
torsin family 1 member A [Source:HGNC Symbol;Acc:HGNC:3098]
Protein Structure (2 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-O14656-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (6)
Cargo recognition for clathrin-mediated endocytosis (R-HSA-8856825)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cargo recognition for clathrin-mediated endocytosis
Reactome
Clathrin-mediated endocytosis
Reactome
Membrane Trafficking
Reactome
Vesicle-mediated transport
Name
Explore in Pharos
Explore in Source
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Membrane Trafficking
Vesicle-mediated transport
Gene Ontology Terms (40)
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Traceable Author Statement (TAS)
ProtInc
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (185)
1 – 10 of 185
TEX29
Tdark
Novelty:  2.30568043
p_int:  0.999237356
p_ni:  0.000762644
Score:  0.189
Data Source:  BioPlex,STRINGDB
SPPL2B
Tchem
Family:  Enzyme
Novelty:  0.0274774
p_int:  0.997642536
p_ni:  0.002357464
Data Source:  BioPlex
ATP2B2
Tbio
Family:  Transporter
Novelty:  0.007782
p_int:  0.99714497
p_ni:  0.00285503
Data Source:  BioPlex
CLEC3A
Tdark
Novelty:  0.21498836
p_int:  0.990096404
p_ni:  0.00973515
p_wrong:  0.000168446
Score:  0.365
Data Source:  BioPlex,STRINGDB
PIP
Tbio
Novelty:  0.00208509
p_int:  0.989728461
p_ni:  0.010271496
p_wrong:  4.4e-8
Data Source:  BioPlex
CLU
Tbio
Novelty:  0.00054776
p_int:  0.978233133
p_ni:  0.021557668
p_wrong:  0.000209199
Score:  0.313
Data Source:  BioPlex,STRINGDB
C1GALT1C1
Tbio
Family:  Enzyme
Novelty:  0.01318017
p_int:  0.943258637
p_ni:  0.056741357
p_wrong:  6e-9
Score:  0.23
Data Source:  BioPlex,STRINGDB
HLA-A
Tbio
Novelty:  0.00270731
p_int:  0.901821838
p_ni:  0.098178162
Score:  0.556
Data Source:  BioPlex,STRINGDB
APOD
Tbio
Novelty:  0.0031899
p_int:  0.780036497
p_ni:  0.21980418
p_wrong:  0.000159324
Score:  0.416
Data Source:  BioPlex,STRINGDB
HYOU1
Tbio
Novelty:  0.00833649
p_int:  0.766654181
p_ni:  0.233338549
p_wrong:  0.00000727
Score:  0.308
Data Source:  BioPlex,STRINGDB
Publication Statistics
PubMed Score  1929.24

PubMed score by year
PubTator Score  807.51

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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