Gene Symbol | TOR1A |
Entrez ID | 1861 |
Uniprot ID | O14656 |
Description | torsin family 1, member A (torsin A) |
Chromosomal Location | chr9: 129,812,944-129,824,134 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000338 |
protein deneddylation |
The removal of a ubiquitin-like protein of the NEDD8 type from a protein. |
IMP |
BP |
GO:0006979 |
response to oxidative stress |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
IEA |
BP |
GO:0006996 |
organelle organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. |
ISS |
BP |
GO:0006998 |
nuclear envelope organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear envelope. |
ISS |
BP |
GO:0007155 |
cell adhesion |
The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
IMP |
BP |
GO:0031175 |
neuron projection development |
The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
IMP |
BP |
GO:0034504 |
protein localization to nucleus |
A process in which a protein is transported to, or maintained in, a location within the nucleus. |
IMP|ISS |
BP |
GO:0044319 |
wound healing, spreading of cells |
The migration of a cell along or through a wound gap that contributes to the reestablishment of a continuous surface. |
ISS |
BP |
GO:0045104 |
intermediate filament cytoskeleton organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising intermediate filaments and their associated proteins. |
IMP |
BP |
GO:0048489 |
synaptic vesicle transport |
The directed movement of synaptic vesicles. |
IMP |
BP |
GO:0051085 |
chaperone mediated protein folding requiring cofactor |
The process of assisting in the correct posttranslational noncovalent assembly of proteins, which is dependent on additional protein cofactors. This process occurs over one or several cycles of nucleotide hydrolysis-dependent binding and release. |
IEA |
BP |
GO:0051260 |
protein homooligomerization |
The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
IDA |
BP |
GO:0051584 |
regulation of dopamine uptake involved in synaptic transmission |
Any process that modulates the frequency, rate or extent of the directed movement of the catecholamine neurotransmitter dopamine into a cell. |
IDA |
BP |
GO:0061077 |
chaperone-mediated protein folding |
The process of inhibiting aggregation and assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure that is dependent on interaction with a chaperone. |
IDA |
BP |
GO:0071712 |
ER-associated misfolded protein catabolic process |
The chemical reactions and pathways resulting in the breakdown of misfolded proteins transported from the endoplasmic reticulum and targeted to cytoplasmic proteasomes for degradation. |
ISS |
BP |
GO:0071763 |
nuclear membrane organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear inner or outer membrane. |
ISS |
BP |
GO:0072321 |
chaperone-mediated protein transport |
The directed movement of proteins into, out of or within a cell, or between cells, mediated by chaperone molecules that bind to the transported proteins. |
IDA |
BP |
GO:1900244 |
positive regulation of synaptic vesicle endocytosis |
Any process that activates or increases the frequency, rate or extent of synaptic vesicle endocytosis. |
IMP |
BP |
GO:2000008 |
regulation of protein localization to cell surface |
Any process that modulates the frequency, rate or extent of protein localization to the cell surface. |
IMP |
CC |
GO:0005635 |
nuclear envelope |
The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
ISS |
CC |
GO:0005783 |
endoplasmic reticulum |
The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
IDA |
CC |
GO:0005788 |
endoplasmic reticulum lumen |
The volume enclosed by the membranes of the endoplasmic reticulum. |
IDA |
CC |
GO:0005856 |
cytoskeleton |
Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
IEA |
CC |
GO:0008021 |
synaptic vesicle |
A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
IDA |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0030054 |
cell junction |
A cellular component that forms a specialized region of connection between two or more cells or between a cell and the extracellular matrix. At a cell junction, anchoring proteins extend through the plasma membrane to link cytoskeletal proteins in one cell to cytoskeletal proteins in neighboring cells or to proteins in the extracellular matrix. |
IEA |
CC |
GO:0030141 |
secretory granule |
A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. |
ISS |
CC |
GO:0030426 |
growth cone |
The migrating motile tip of a growing nerve cell axon or dendrite. |
ISS |
CC |
GO:0030659 |
cytoplasmic vesicle membrane |
The lipid bilayer surrounding a cytoplasmic vesicle. |
ISS |
CC |
GO:0031965 |
nuclear membrane |
Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
IEA |
CC |
GO:0042406 |
extrinsic component of endoplasmic reticulum membrane |
The component of the endoplasmic reticulum membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
IDA |
CC |
GO:0070062 |
extracellular exosome |
A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
IDA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0005524 |
ATP binding |
Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
IEA |
MF |
GO:0008092 |
cytoskeletal protein binding |
Interacting selectively and non-covalently with any protein component of any cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). |
IPI |
MF |
GO:0016887 |
ATPase activity |
Catalysis of the reaction: ATP + H2O = ADP + phosphate + 2 H+. May or may not be coupled to another reaction. |
IDA |
MF |
GO:0019894 |
kinesin binding |
Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation. |
IPI |
MF |
GO:0051082 |
unfolded protein binding |
Interacting selectively and non-covalently with an unfolded protein. |
IEA |
MF |
GO:0051787 |
misfolded protein binding |
Interacting selectively and non-covalently with a misfolded protein. |
IEA |
Domain ID | Description |
---|---|
IPR010448 |
Torsin |
IPR017378 |
Torsin 1/2 |
IPR027417 |
P-loop containing nucleoside triphosphate hydrolase |
IPR030549 |
Torsin-1A |
UMLS CUI | UMLS Term |
---|---|
C0013421 |
Dystonia |
C0393593 |
Dystonia Disorders |
Tissue | Cell Type |
---|---|
bone marrow |
hematopoietic cells |
epididymis |
glandular cells |
fallopian tube |
glandular cells |
gallbladder |
glandular cells |
heart muscle |
myocytes |
lung |
macrophages |
nasopharynx |
respiratory epithelial cells |
parathyroid gland |
glandular cells |
placenta |
decidual cells |
placenta |
trophoblastic cells |
soft tissue |
adipocytes |
spleen |
cells in red pulp |
testis |
Leydig cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
FAM20B |
9917 |
O75063 |
0.63 |
SNAPIN |
23557 |
O95295 |
0.63 |
TOR2A |
27433 |
Q5JU69 |
0.63 |
ASPHD2 |
57168 |
Q6ICH7 |
0.63 |
TOR3A |
64222 |
Q9H497 |
0.63 |
STON2 |
85439 |
Q8WXE9 |
0.63 |
KRTAP10-7 |
386675 |
P60409 |
0.63 |
KLHL14 |
57565 |
Q9P2G3 |
0.65 |
CANX |
821 |
P27824 |
0.74 |
LMNA |
4000 |
P02545 |
0.75 |
SNCA |
6622 |
P37840 |
0.75 |
DHCR7 |
1717 |
Q9UBM7 |
0.76 |
DYNC1H1 |
1778 |
Q14204 |
0.76 |
CNIH4 |
29097 |
Q9P003 |
0.76 |
TOR1A |
1861 |
O14656 |
0.78 |
TCTN1 |
79600 |
Q2MV58 |
0.49 |
ELAVL1 |
1994 |
Q15717 |
0.63 |
HSD11B1 |
3290 |
P28845 |
0.63 |
CUL7 |
9820 |
Q14999 |
0.63 |
FBXO2 |
26232 |
Q9UK22 |
0.63 |
TEX29 |
121793 |
Q8N6K0 |
0.63 |
LRRC7 |
57554 |
Q96NW7 |
0.67 |
COPS4 |
51138 |
Q9BT78 |
0.70 |
H2AFX |
3014 |
P16104 |
0.72 |
TOR1B |
27348 |
O14657 |
0.73 |
TOR1AIP1 |
26092 |
Q5JTV8 |
0.79 |
TOR1AIP2 |
163590 |
Q8NFQ8 |
0.86 |