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The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
TOR1A (Torsin Family 1 Member A) is a Protein Coding gene. Diseases associated with TOR1A include Dystonia 1, Torsion, Autosomal Dominant and Dystonia. Among its related pathways are Neuroscience and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include ATPase activity and cytoskeletal protein binding. An important paralog of this gene is TOR1B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 15147511 |
GO:0005524 | ATP binding | IEA | -- |
GO:0008092 | cytoskeletal protein binding | IEA,IPI | 16361107 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005635 | nuclear envelope | IEA,ISS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IDA | 12671990 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Clathrin-mediated endocytosis | ||
2 | Vesicle-mediated transport | ||
3 | Cytoskeletal Signaling | ||
4 | Neuroscience | ||
5 | Alpha-synuclein signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000338 | protein deneddylation | IMP | 21102408 |
GO:0006979 | response to oxidative stress | IEA | -- |
GO:0006996 | organelle organization | IEA,ISS | -- |
GO:0006998 | nuclear envelope organization | IEA,ISS | -- |
GO:0007155 | cell adhesion | IEA,IMP | 16361107 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TOR1A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TOR1A 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TOR1A 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TOR1A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tor1a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tor1a 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TOR1A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TOR1A 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tor1b 30 |
|
||
Str.13379 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.15883 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tor1 31 |
|
ManyToMany | |
tor1l1 31 |
|
ManyToMany | |||
tor1l3 31 |
|
ManyToMany | |||
AL954146.4 31 |
|
ManyToMany | |||
Dr.16695 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009547 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Torsin 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | tor-1 31 |
|
ManyToMany | |
ooc-5 31 |
|
ManyToMany | |||
tor-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7178 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.9286 30 |
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640392 | Uncertain Significance: Dystonia | 129,822,652(-) | T/G | MISSENSE_VARIANT | |
653047 | Uncertain Significance: Dystonia | 129,814,105(-) | C/T | MISSENSE_VARIANT | |
695357 | Benign: not provided | 129,814,152(-) | T/C | SYNONYMOUS_VARIANT | |
695773 | Conflicting Interpretations: Dystonia 1; not provided | 129,814,148(-) | T/C | MISSENSE_VARIANT | |
695881 | Benign/Likely Benign: Dystonia; Dystonia 1 | 129,818,804(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1511e214 | CNV | gain | 21293372 |
esv3621839 | CNV | loss | 21293372 |
nsv1046477 | CNV | gain | 25217958 |
nsv1076208 | CNV | deletion | 25765185 |
nsv1144295 | CNV | deletion | 24896259 |
nsv6729 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dystonia 1, torsion, autosomal dominant |
|
|
dystonia |
|
|
early-onset generalized limb-onset dystonia |
|
|
focal dystonia |
|
|
dystonia 11, myoclonic |
|