TOR1A Gene Summary [Human]
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TOR1A |
| Official Name | torsin family 1 member A [Source:HGNC Symbol;Acc:HGNC:3098] |
| Ensembl ID | ENSG00000136827 |
| Bio databases IDs | |
| Aliases | torsin family 1 member A, torsin A, torsin-1A, torsinA |
| Synonyms | AMC5, DQ2, DYT1, Torsin A, torsin family 1 member A, torsin family 1, member A, torsin family 1, member A (torsin A) |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TOR1A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Torsin
- cytoskeletal protein binding
- ATP-binding domain
- enzyme
- sensor domain
- protein binding
- identical protein binding
- ATPase
- kinesin binding
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- neonatal late-onset sepsis
- early onset torsion dystonia
- prostatic carcinoma
- prostate cancer
- Parkinson disease
- hereditary disorder
- arthrogryposis multiplex congenita 5
- torsion dystonia 1
- dystonia
role in cell
- expression in
- formation
- organization
- adhesion
- blebbing
- morphology
- transport
- abnormal morphology
- formation in
- stabilization in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum fraction
- vesicle membrane fractions
- intracellular membrane-bounded organelle
- perinuclear region
- membrane surface
- cellular membrane
- Nucleus
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- nuclear envelope
- synaptic vesicles
- growth cone
- neurites
- synaptosomes
- secretory granules
- perikaryon
- endosomes and endoplasmic reticulum fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TOR1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- wound healing, spreading of cells
- neuron projection development
- chaperone-mediated protein folding
- intermediate filament cytoskeleton organization
- protein deneddylation
- positive regulation of synaptic vesicle endocytosis
- chaperone mediated protein folding requiring cofactor
- cell adhesion
- organelle organization
- response to oxidative stress
- nuclear envelope organization
- regulation of protein localization at cell surface
- synaptic vesicle transport
- synaptic vesicle membrane organization
- regulation of dopamine uptake involved in synaptic transmission
- nuclear membrane organization
- protein localization to nucleus
Cellular Component
Where in the cell the gene product is active
- synaptic vesicle
- secretory granule
- endoplasmic reticulum
- nuclear envelope
- growth cone
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- nuclear membrane
- cytoplasmic vesicle membrane
- extracellular vesicular exosome
- cytoskeleton
- intracellular membrane-bounded organelle
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- identical protein binding
- protein binding
- kinesin binding
- unfolded protein binding
- cytoskeletal protein binding
- misfolded protein binding