TOR1A
entrez
1861
canonical
uniprot
O14656
canonical
ensembl
ENSG00000136827
resolver
ensp
ENSP00000345719
resolver
genesymbol
TOR1A
resolver
genesymbol_syn
DQ2
resolver
genesymbol_syn
DYT1
resolver
genesymbol_syn
TA
resolver
genesymbol_syn
TORA
resolver
hgnc
HGNC:3098
resolver
uniprot
B2RB58
resolver
uniprot
B3KPA1
resolver
uniprot
Q53Y64
resolver
uniprot
Q96CA0
resolver
uniprot_entry
B3KPA1_HUMAN
resolver
uniprot_entry
TOR1A_HUMAN
resolver
uniprot_sec
B2RB58
resolver
uniprot_sec
Q53Y64
resolver
uniprot_sec
Q96CA0
resolver
amino_acid_sequence
MKLGRAVLGLLLLAPSVVQAVEPISLGLALAGVLTGYIYPRLYCLFAECCGQKRSLSREALQKDLDDNLFGQHLAKKIILNAVFGFINNPKPKKPLTLSLHGWTGTGKNFVSKIIAENIYEGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVSACARSIFIFDEMDKMHAGLIDAIKPFLDYYDLVDGVSYQKAMFIFLSNAGAERITDVALDFWRSGKQREDIKLKDIEHALSVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYKHLKMCIRVEMQSRGYEIDEDIVSRVAEEMTFFPKEERVFSDKGCKTVFTKLDYYYDD
uniprot
proteins
disease_involvement
DISEASE: Dystonia 1, torsion, autosomal dominant (DYT1) [MIM:128100]: A primary torsion dystonia, and the most common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 1 is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized dystonia, even within families. {ECO:0000269|PubMed:14970196, ECO:0000269|PubMed:15505207, ECO:0000269|PubMed:16361107, ECO:0000269|PubMed:17428918, ECO:0000269|PubMed:18167355, ECO:0000269|PubMed:18477710, ECO:0000269|PubMed:18827015, ECO:0000269|PubMed:19955557, ECO:0000269|PubMed:20169475, ECO:0000269|PubMed:21102408, ECO:0000269|PubMed:24930953, ECO:0000269|PubMed:27490483, ECO:0000269|PubMed:9288096}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Arthrogryposis multiplex congenita 5 (AMC5) [MIM:618947]: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC5 is an autosomal recessive form characterized by severe congenital contractures, developmental delay, strabismus and tremor. {ECO:0000269|PubMed:28516161, ECO:0000269|PubMed:29053766, ECO:0000269|PubMed:30244176}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.-
uniprot
proteins
function
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:0000269|PubMed:15505207, ECO:0000269|PubMed:16361107, ECO:0000269|PubMed:17428918, ECO:0000269|PubMed:18167355, ECO:0000269|PubMed:18827015, ECO:0000269|PubMed:19339278, ECO:0000269|PubMed:20169475, ECO:0000269|PubMed:23569223, ECO:0000269|PubMed:24930953}.
uniprot
proteins
mass_dalton
37809
uniprot
proteins
mutagenesis
MUTAGEN 18; /note="V->F: Inhibits sequence signal cleavage."; /evidence="ECO:0000269|PubMed:17037984"; MUTAGEN 20; /note="A->F: Inhibits sequence signal cleavage."; /evidence="ECO:0000269|PubMed:17037984"; MUTAGEN 33; /note="V->N: N-glycosylated."; /evidence="ECO:0000269|PubMed:17037984"; MUTAGEN 108; /note="K->A: Loss of ATP-binding. No effect on interaction with KLHL14. Increases interaction with TOR1AIP1 and TOR1AIP2. Abolishes interaction with SLC6A3."; /evidence="ECO:0000269|PubMed:15505207, ECO:0000269|PubMed:19339278, ECO:0000269|PubMed:19535332"; MUTAGEN 143; /note="N->Q: Reduces N-glycosylation."; /evidence="ECO:0000269|PubMed:10871631"; MUTAGEN 158; /note="N->Q: Reduces N-glycosylation."; /evidence="ECO:0000269|PubMed:10871631"; MUTAGEN 171; /note="E->Q: Loss of ATP hydrolysis. Loss of interaction with KLHL14. Localizes in the nuclear envelope. No effect on interaction with TOR1AIP1."; /evidence="ECO:0000269|PubMed:19339278, ECO:0000269|PubMed:19535332, ECO:0000269|PubMed:20015956, ECO:0000269|PubMed:23569223, ECO:0000269|PubMed:27490483
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:10871631, ECO:0000269|PubMed:15147511, ECO:0000269|PubMed:17037984}.
uniprot
proteins
protein_family
ClpA/ClpB family
uniprot
proteins
protein_family
Torsin subfamily
uniprot
proteins
pubmed
10640617
uniprot
proteins
pubmed
10871631
uniprot
proteins
pubmed
11523564
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14970196
uniprot
proteins
pubmed
15147511
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15505207
uniprot
proteins
pubmed
15767459
uniprot
proteins
pubmed
16361107
uniprot
proteins
pubmed
17037984
uniprot
proteins
pubmed
17428918
uniprot
proteins
pubmed
18167355
uniprot
proteins
pubmed
18477710
uniprot
proteins
pubmed
18827015
uniprot
proteins
pubmed
19339278
uniprot
proteins
pubmed
19535332
uniprot
proteins
pubmed
19955557
uniprot
proteins
pubmed
20015956
uniprot
proteins
pubmed
20169475
uniprot
proteins
pubmed
21102408
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23569223
uniprot
proteins
pubmed
24930953
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26940431
uniprot
proteins
pubmed
27490483
uniprot
proteins
pubmed
28516161
uniprot
proteins
pubmed
29053766
uniprot
proteins
pubmed
30244176
uniprot
proteins
pubmed
9288096
uniprot
proteins
sequence_length
332
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:29053766}. Nucleus membrane {ECO:0000269|PubMed:14970196, ECO:0000269|PubMed:29053766}; Peripheral membrane protein {ECO:0000305}. Cell projection, growth cone {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Cytoplasm, cytoskeleton. 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}.
uniprot
proteins