Mus musculus Protein: Tor1a
Summary
InnateDB Protein IDBP-157168.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Tor1a
Protein Name torsin family 1, member A (torsin A)
Synonyms DQ2; Dyt1; torsinA;
Species Mus musculus
Ensembl Protein ENSMUSP00000028200
InnateDB Gene IDBG-157164 (Tor1a)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:16364897, ECO:0000269PubMed:17200151, ECO:0000269PubMed:17428918, ECO:0000269PubMed:18827015, ECO:0000269PubMed:20457914}.
Subcellular Localization Endoplasmic reticulum lumen. Nucleus membrane; Peripheral membrane protein. Cell projection, growth cone. Cytoplasmic vesicle membrane {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250}. Note=Upon oxidative stress, redistributes to protusions from the cell surface (By similarity). Peripherally associated with the inner face of the ER membrane, probably mediated by the interaction with TOR1AIP1. The association with nucleus membrane is mediated by the interaction with TOR1AIP2. {ECO:0000250}.
Disease Associations
Tissue Specificity Widely expressed (at protein level). {ECO:0000269PubMed:16364897, ECO:0000269PubMed:20015956}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 18 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008092 cytoskeletal protein binding
GO:0016887 ATPase activity
GO:0019894 kinesin binding
GO:0051787 misfolded protein binding
Biological Process
GO:0000338 protein deneddylation
GO:0006200 ATP catabolic process
GO:0006979 response to oxidative stress
GO:0006996 organelle organization
GO:0006998 nuclear envelope organization
GO:0007155 cell adhesion
GO:0031175 neuron projection development
GO:0034504 protein localization to nucleus
GO:0044319 wound healing, spreading of cells
GO:0045104 intermediate filament cytoskeleton organization
GO:0048489 synaptic vesicle transport
GO:0051085 chaperone mediated protein folding requiring cofactor
GO:0051260 protein homooligomerization
GO:0051584 regulation of dopamine uptake involved in synaptic transmission
GO:0061077 chaperone-mediated protein folding
GO:0071712 ER-associated misfolded protein catabolic process
GO:0071763 nuclear membrane organization
GO:0072321 chaperone-mediated protein transport
GO:1900244 positive regulation of synaptic vesicle endocytosis
GO:2000008 regulation of protein localization to cell surface
Cellular Component
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005856 cytoskeleton
GO:0008021 synaptic vesicle
GO:0016020 membrane
GO:0030054 cell junction
GO:0030133 transport vesicle
GO:0030141 secretory granule
GO:0030426 growth cone
GO:0030659 cytoplasmic vesicle membrane
GO:0031965 nuclear membrane
GO:0042406 extrinsic component of endoplasmic reticulum membrane
GO:0043005 neuron projection
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID MGI:1353568
InterPro IPR010448 Torsin
IPR017378 Torsin, subgroup
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF06309
PRINTS
PIRSF PIRSF038079
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9ER39
PhosphoSite PhosphoSite-Q9ER39
TrEMBL Q3TV62
UniProt Splice Variant
Entrez Gene 30931
UniGene
RefSeq NP_659133
MGI ID
MGI Symbol Tor1a
OMIM
CCDS CCDS15891
HPRD
IMGT
EMBL AJ298841 AK160361 BC017683 CH466542
GenPept AAH17683 BAE35758 CAC12785 EDL08497