| UniProt ID | TOR1A_HUMAN | |
|---|---|---|
| UniProt AC | O14656 | |
| Protein Name | Torsin-1A | |
| Gene Name | TOR1A | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 332 | |
| Subcellular Localization |
Endoplasmic reticulum lumen. Nucleus membrane Peripheral membrane protein. Cell projection, growth cone. Cytoplasmic vesicle membrane. Cytoplasmic vesicle, secretory vesicle. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Cytoplasm, cytoskelet |
|
| Protein Description | 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.. | |
| Protein Sequence | MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYCLFAECCGQKRSLSREALQKDLDDNLFGQHLAKKIILNAVFGFINNPKPKKPLTLSLHGWTGTGKNFVSKIIAENIYEGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVSACARSIFIFDEMDKMHAGLIDAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVALDFWRSGKQREDIKLKDIEHALSVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMCIRVEMQSRGYEIDEDIVSRVAEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 53 | Ubiquitination | FAECCGQKRSLSREA HHHHHCCCCCCCHHH | 29.28 | - | |
| 63 | Ubiquitination | LSREALQKDLDDNLF CCHHHHHHHCCCCHH | 62.19 | - | |
| 76 | Ubiquitination | LFGQHLAKKIILNAV HHHHHHHHHHHHHHH | 51.36 | - | |
| 143 | N-linked_Glycosylation | LHFPHASNITLYKDQ EECCCHHCEEEEECH | 31.86 | 10871631 | |
| 143 | N-linked_Glycosylation | LHFPHASNITLYKDQ EECCCHHCEEEEECH | 31.86 | 10871631 | |
| 158 | N-linked_Glycosylation | LQLWIRGNVSACARS HHHHHHCCHHHHHHE | 18.09 | 10871631 | |
| 158 | N-linked_Glycosylation | LQLWIRGNVSACARS HHHHHHCCHHHHHHE | 18.09 | 10871631 | |
| 215 | Phosphorylation | NAGAERITDVALDFW CCCCHHHHHHHHHHH | 30.55 | 22199227 | |
| 224 | Phosphorylation | VALDFWRSGKQREDI HHHHHHHCCCCHHCC | 40.72 | 22199227 | |
| 309 | Ubiquitination | EEMTFFPKEERVFSD HHHCCCCHHHHCCCC | 68.03 | 21906983 | |
| 325 | Ubiquitination | GCKTVFTKLDYYYDD CCCEEEEECCCCCCC | 28.09 | 2190698 | |
| 341 (in isoform 1) | Ubiquitination | - | 21906983 | ||
| 357 (in isoform 1) | Ubiquitination | - | 21906983 |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of TOR1A_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of TOR1A_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of TOR1A_HUMAN !! | ||||||
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