TOR1A report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_1900244Biological processpositive regulation of synaptic vesicle endocytosis
GO_0006998Biological processnuclear envelope organization
GO_0061077Biological processchaperone-mediated protein folding
GO_0000338Biological processprotein deneddylation
GO_0051584Biological processregulation of dopamine uptake involved in synaptic transmission
GO_0031175Biological processneuron projection development
GO_0048499Biological processsynaptic vesicle membrane organization
GO_2000008Biological processregulation of protein localization to cell surface
GO_0007155Biological processcell adhesion
GO_0006996Biological processorganelle organization
GO_0034504Biological processprotein localization to nucleus
GO_0045104Biological processintermediate filament cytoskeleton organization
GO_0071763Biological processnuclear membrane organization
GO_0044319Biological processwound healing, spreading of cells
GO_0051085Biological processchaperone cofactor-dependent protein refolding
GO_0006979Biological processresponse to oxidative stress
GO_0036503Biological processERAD pathway
GO_0048489Biological processsynaptic vesicle transport
GO_0005856Cellular componentcytoskeleton
GO_0016020Cellular componentmembrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0070062Cellular componentextracellular exosome
GO_0005635Cellular componentnuclear envelope
GO_0005788Cellular componentendoplasmic reticulum lumen
GO_0005783Cellular componentendoplasmic reticulum
GO_0005829Cellular componentcytosol
GO_0008021Cellular componentsynaptic vesicle
GO_0030426Cellular componentgrowth cone
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0030141Cellular componentsecretory granule
GO_0031965Cellular componentnuclear membrane
GO_0030659Cellular componentcytoplasmic vesicle membrane
GO_0051787Molecular functionmisfolded protein binding
GO_0042802Molecular functionidentical protein binding
GO_0051082Molecular functionunfolded protein binding
GO_0019894Molecular functionkinesin binding
GO_0140662Molecular functionATP-dependent protein folding chaperone
GO_0005524Molecular functionATP binding
GO_0008092Molecular functioncytoskeletal protein binding
GO_0005515Molecular functionprotein binding
GO_0016887Molecular functionATP hydrolysis activity

IV. Literature review

[source]
Gene nameTOR1A
Protein nameTorsin-1A (Dystonia 1 protein) (Torsin ATPase-1A) (EC 3.6.4.-) (Torsin family 1 member A)
Torsin-1A (Dystonia 1 protein)
SynonymsTA
TORA
hCG_30595
DYT1
DQ2
DescriptionFUNCTION: 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 with TOR1B in non-neural tissues. .

AccessionsENST00000351698.5 [O14656-1]
B4DGM9
ENST00000651202.1
A0A494BZT7
O14656