Protein: Torsin-1A (Dystonia 1 protein) (Torsin ATPase 1) (EC 3.6.4.-) (Q68G38)
Organism: Rattus norvegicus (Rat)
Function: 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 (By similarity).
Subcellular location: Endoplasmic reticulum lumen {ECO:0000250|UniProtKB:O14656}. Nucleus inner membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell projection, growth cone. Cytoplasmic vesicle membrane. Cytoplasmic vesicle, secretory vesicle. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Note=Peripherally associated with the inner face of the ER membrane, probably mediated by the interaction with TOR1AIP1. The association with nucleus envelope is mediated by the interaction with TOR1AIP2. Upon oxidative stress, redistributes to protusions from the cell surface.
Sequence: MKLGRATLALLLLVPCVVRAVEPISLGLALAGVLTGYISYPRLYCLFAECCGQKRSLSREALQKDLDNKLFGQHLAKRVILNAVSGFLSNPKPKKPLTLSLHGWTGTGKNFASKIIAENIYEGGLNSDYVHLFVATLHFPHASNITLYKDQLQMWIRGNVSACARSIFIFDEMDKMHAGLIDAIKPFLDYYDVVDEVSYQKAIFIFLSNAGAERITDVALDFWRSGKQREEIKLRDMEHALAVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMCIRVEMQSRGYEEDEDIINKVAEEMTFFPKEEKVFSDKGCKTVFTKLDYYLDD
InterPro domains: - IPR049337: Torsin-1A, C-terminal domain (domain) [273-330]
- IPR017378: Torsin 1/2 (family) [1-332]
- IPR027417: P-loop containing nucleoside triphosphate hydrolase (homologous_superfamily) [48-310]
- IPR010448: Torsin (family) [33-332]
Interaction partners: - Torsin-1A-interacting protein 2
- Torsin-1A-interacting protein 1
- Torsin.
- Protein-glutamine gamma-glutamyltransferase 2
- Epsilon-sarcoglycan
- COP9 signalosome complex subunit 4
- CDKN1A interacting zinc finger protein 1
- THAP domain-containing protein 1
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0003824 (catalytic activity), GO:0140657 (ATP-dependent activity), GO:0016887 (ATP hydrolysis activity), GO:0016787 (hydrolase activity), GO:0005515 (protein binding), GO:0042802 (identical protein binding), GO:0016817 (hydrolase activity, acting on acid anhydrides), GO:0016818 (hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides), GO:0016462 (pyrophosphatase activity), GO:0017111 (ribonucleoside triphosphate phosphatase activity)
Biological Process (BP): GO:0008150 (biological process), GO:0008152 (metabolic process), GO:0051179 (localization), GO:0050896 (response to stimulus), GO:0032502 (developmental process), GO:0009987 (cellular process), GO:0051641 (cellular localization), GO:0048856 (anatomical structure development), GO:0009653 (anatomical structure morphogenesis), GO:0048870 (cell motility), GO:0042221 (response to chemical), GO:0006807 (nitrogen compound metabolic process), GO:0051716 (cellular response to stimulus), GO:0071840 (cellular component organization or biogenesis), GO:0006950 (response to stress), GO:0071704 (organic substance metabolic process), GO:0009056 (catabolic process), GO:0044238 (primary metabolic process), GO:0033036 (macromolecule localization), GO:0048729 (tissue morphogenesis), GO:1901564 (organonitrogen compound metabolic process), GO:1901698 (response to nitrogen compound), GO:0009611 (response to wounding), GO:0009888 (tissue development), GO:0070887 (cellular response to chemical stimulus), GO:0033554 (cellular response to stress), GO:0019538 (protein metabolic process), GO:0035966 (response to topologically incorrect protein), GO:0070727 (cellular macromolecule localization), GO:0016043 (cellular component organization), GO:1901575 (organic substance catabolic process), GO:0043170 (macromolecule metabolic process), GO:0010033 (response to organic substance), GO:0016477 (cell migration), GO:0034976 (response to endoplasmic reticulum stress), GO:0009057 (macromolecule catabolic process), GO:0042060 (wound healing), GO:0035967 (cellular response to topologically incorrect protein), GO:0010243 (response to organonitrogen compound), GO:1901565 (organonitrogen compound catabolic process), GO:0006508 (proteolysis), GO:0051788 (response to misfolded protein), GO:0071310 (cellular response to organic substance), GO:0010256 (endomembrane system organization), GO:0030163 (protein catabolic process), GO:0061024 (membrane organization), GO:0044319 (wound healing, spreading of cells), GO:0002009 (morphogenesis of an epithelium), GO:0008104 (protein localization), GO:0060429 (epithelium development), GO:0006996 (organelle organization), GO:0033365 (protein localization to organelle), GO:0006997 (nucleus organization), GO:0002011 (morphogenesis of an epithelial sheet), GO:0090505 (epiboly involved in wound healing), GO:0071218 (cellular response to misfolded protein), GO:0006998 (nuclear envelope organization), GO:0036503 (ERAD pathway), GO:0010498 (proteasomal protein catabolic process), GO:0051603 (proteolysis involved in protein catabolic process), GO:0071763 (nuclear membrane organization), GO:0034504 (protein localization to nucleus), GO:0090504 (epiboly), GO:0071712 (ER-associated misfolded protein catabolic process), GO:0006515 (protein quality control for misfolded or incompletely synthesized proteins)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0005622 (intracellular anatomical structure), GO:0043226 (organelle), GO:0016020 (membrane), GO:0098793 (presynapse), GO:0030054 (cell junction), GO:0031975 (envelope), GO:0005737 (cytoplasm), GO:0012505 (endomembrane system), GO:0031090 (organelle membrane), GO:0031967 (organelle envelope), GO:0008021 (synaptic vesicle), GO:0031410 (cytoplasmic vesicle), GO:0043229 (intracellular organelle), GO:0045202 (synapse), GO:0030133 (transport vesicle), GO:0043227 (membrane-bounded organelle), GO:0030658 (transport vesicle membrane), GO:0099503 (secretory vesicle), GO:0043231 (intracellular membrane-bounded organelle), GO:0098588 (bounding membrane of organelle), GO:0012506 (vesicle membrane), GO:0070382 (exocytic vesicle), GO:0030672 (synaptic vesicle membrane), GO:0031982 (vesicle), GO:0030659 (cytoplasmic vesicle membrane), GO:0097708 (intracellular vesicle), GO:0099501 (exocytic vesicle membrane)