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
|
|
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 |
|
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]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
MGI:1353568
|
InterPro |
IPR010448
Torsin
IPR017378
Torsin, subgroup
IPR027417
P-loop containing nucleoside triphosphate hydrolase
|
PFAM |
PF06309
|
PRINTS |
|
PIRSF |
PIRSF038079
|
SMART |
|
TIGRFAMs |
|
Modification |
|
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
|
|
|