Protein Description

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

No pathways found.

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

No databases found.

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