Aliases for TOR1A Gene
Aliases for TOR1A Gene
External Ids for TOR1A Gene
- HGNC: 3098
- Entrez Gene: 1861
- Ensembl: ENSG00000136827
- OMIM: 605204
- UniProtKB: O14656
Previous HGNC Symbols for TOR1A Gene
- DYT1
Previous GeneCards Identifiers for TOR1A Gene
- GC09M129655
- GC09M131615
- GC09M132575
- GC09M102174
Summaries for TOR1A Gene
-
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]
GeneCards Summary for TOR1A Gene
TOR1A (Torsin Family 1 Member A) is a Protein Coding gene. Diseases associated with TOR1A include Dystonia 1, Torsion, Autosomal Dominant and Early-Onset Generalized Dystonia. Among its related pathways are Cytoskeletal Signaling 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.
UniProtKB/Swiss-Prot for TOR1A Gene
-
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.
Additional gene information for TOR1A Gene
- Monarch Initiative
- Search for TOR1A at DataMed
- Search for TOR1A at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOR1A Gene
Genomics for TOR1A Gene
GeneHancer (GH) Regulatory Elements for TOR1A Gene
Promoters and enhancers for TOR1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TOR1A on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the TOR1A gene promoter:
-
- AP-2gamma
- Roaz
- CUTL1
- p53
- Lmo2
- ATF6
- Arnt
- AREB6
- Tal-1
- E47
Regulatory Element Products
Genomic Locations for TOR1A Gene
Genomic Locations for TOR1A Gene
- chr9:129,812,942-129,824,245
- (GRCh38/hg38)
- Size:
- 11,304 bases
- Orientation:
- Minus strand
- chr9:132,575,221-132,586,441
- (GRCh37/hg19)
- Size:
- 11,221 bases
- Orientation:
- Minus strand
Genomic View for TOR1A Gene
Genes around TOR1A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q34.11 by Entrez Gene
- 9q34.11 by HGNC
- 9q34.11 by Ensembl
TOR1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TOR1A Gene
Proteins for TOR1A Gene
-
Protein details for TOR1A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O14656-TOR1A_HUMAN
- Recommended name:
- Torsin-1A
- Protein Accession:
- O14656
- B2RB58
- Q53Y64
- Q96CA0
Protein attributes for TOR1A Gene
- Size:
- 332 amino acids
- Molecular mass:
- 37809 Da
- Quaternary structure:
-
- Homohexamer. Interacts with TOR1B; the interaction may be specific of neural tissues. Interacts (ATP-bound) with TOR1AIP1 and TOR1AIP2; the interactions induce ATPase activity. Interacts with KLHL14; preferentially when ATP-free. Interacts with KLC1 (via TPR repeats); the interaction associates TOR1A with the kinesin oligomeric complex. Interacts with COPS4; the interaction associates TOR1A with the CSN complex. Interacts with SNAPIN; the interaction is direct and associates SNAPIN with the CSN complex. Interacts with STON2. Interacts (ATP-bound) with SYNE3 (via KASH domain); the interaction is required for SYNE3 nuclear envelope localization. Interacts with VIM; the interaction associates TOR1A with the cytoskeleton. Interacts with PLEC. Interacts (ATP-bound) with SLC6A3; regulates SLC6A3 transport to the plasma membrane.
Protein Expression for TOR1A Gene
Post-translational modifications for TOR1A Gene
- N-glycosylated.
- Glycosylation at isoforms=158 and posLast=143143
- Modification sites at PhosphoSitePlus
Other Protein References for TOR1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TOR1A
- Novus Biologicals Antibodies for TOR1A
- Invitrogen Antibodies for TOR1A
- GeneTex TOR1A Antibody for TOR1A
-
Santa Cruz Biotechnology (SCBT) Antibodies for TOR1A
Protein Products
-
OriGene Purified Proteins for TOR1A
- Search Origene for MassSpec and Protein Over-expression Lysates for TOR1A
- Origene Custom Protein Services for TOR1A
- ProSpec Recombinant Proteins for TOR1A
- Search GeneTex for Proteins for TOR1A
Assay Products
No data available for DME Specific Peptides for TOR1A Gene
Domains & Families for TOR1A Gene
Gene Families for TOR1A Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted secreted proteins
Protein Domains for TOR1A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TOR1A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O14656- Family:
-
- Belongs to the ClpA/ClpB family. Torsin subfamily.
Function for TOR1A Gene
Molecular function for TOR1A Gene
- UniProtKB/Swiss-Prot 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + H(2)O = ADP + phosphate.
- GENATLAS Biochemistry:
- torsin 1A ATP binding protein,homolog to TOR1B,expressed in adult brain substantia nigra,hippocampus,frontal cortex,homolog to heat shock proteins and C1p proteases
Enzyme Numbers (IUBMB) for TOR1A Gene
Phenotypes From GWAS Catalog for TOR1A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15147511 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0008092 | cytoskeletal protein binding | IPI | 16361107 |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0016887 | ATPase activity | IDA | 23569223 |
Phenotypes for TOR1A Gene
- MGI mutant phenotypes for TOR1A:
- inferred from 8 alleles
- GenomeRNAi human phenotypes for TOR1A:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TOR1A
-
CRISPR Products
-
OriGene CRISPR knockouts for TOR1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOR1A
- genomics-online: gRNA clones - Search results for available TOR1A gene related products
- Applied Biological Materials CRISPR for TOR1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TOR1A
- GenScript: Design CRISPR guide RNA sequences for TOR1A
miRNA for TOR1A Gene
- miRTarBase miRNAs that target TOR1A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TOR1A
- Browse OriGene Inhibitory RNA Products For TOR1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR1A
- genomics-online: shRNA clones - Search results for available TOR1A gene related products
Clone Products
- GenScript: Custom all cDNA clones Services for TOR1A
- Sino Biological Human cDNA Clone for TOR1A
- VectorBuilder custom plasmid, inducible vectors for TOR1A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TOR1A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TOR1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOR1A
- genomics-online: cdna clones - Search results for available TOR1A gene related products
- orf clones - Search results for available TOR1A gene related products
- Applied Biological Materials Clones for TOR1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TOR1A
No data available for Transcription Factor Targets and HOMER Transcription for TOR1A Gene
Localization for TOR1A Gene
Subcellular locations from UniProtKB/Swiss-Prot for TOR1A Gene
- 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, 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}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| plasma membrane | 1 |
| golgi apparatus | 1 |
- Nuclear membrane (3)
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005635 | nuclear envelope | ISS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IDA | 12671990 |
| GO:0005788 | endoplasmic reticulum lumen | IDA | 17037984 |
Pathways & Interactions for TOR1A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Clathrin-mediated endocytosis | ||
| 2 | Vesicle-mediated transport | ||
| 3 | Cytoskeletal Signaling | ||
| 4 | Neuroscience | ||
| 5 | Alpha-synuclein signaling | ||
Pathways by source for TOR1A Gene
1 BioSystems pathway for TOR1A Gene
4 Reactome pathways for TOR1A Gene
2 Cell Signaling Technology pathways for TOR1A Gene
Interacting Proteins for TOR1A Gene
Selected Interacting proteins:
O14656-TOR1A_HUMAN
ENSP00000345719
for TOR1A Gene via
IID
UniProtKB
STRING
MINT
GPS-Prot Interaction Network for TOR1A
| 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 | ISS | -- |
| GO:0007155 | cell adhesion | IMP | 16361107 |
No data available for SIGNOR curated interactions for TOR1A Gene
Transcripts for TOR1A Gene
mRNA/cDNA for TOR1A Gene
- (1) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (279) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000351698 2076 bps (uc004byl.4)
- ENST00000473084 1668 bps (uc064wma.1)
- ENST00000473604 1055 bps (uc064wlz.1)
- ENST00000474192 947 bps (uc064wly.1)
Unigene Clusters for TOR1A Gene
- Torsin family 1, member A (torsin A):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for TOR1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOR1A
- genomics-online: gRNA clones - Search results for available TOR1A gene related products
- Applied Biological Materials CRISPR for TOR1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TOR1A
- GenScript: Design CRISPR guide RNA sequences for TOR1A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TOR1A
- Browse OriGene Inhibitory RNA Products For TOR1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR1A
- genomics-online: shRNA clones - Search results for available TOR1A gene related products
Clone Products
- GenScript: Custom all cDNA clones Services for TOR1A
- Sino Biological Human cDNA Clone for TOR1A
- VectorBuilder custom plasmid, inducible vectors for TOR1A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TOR1A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TOR1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOR1A
- genomics-online: cdna clones - Search results for available TOR1A gene related products
- orf clones - Search results for available TOR1A gene related products
- Applied Biological Materials Clones for TOR1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||
| SP6: |
Expression for TOR1A Gene
This gene is overexpressed in Peripheral blood mononuclear cells (13.3) and Bone (12.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TOR1A Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TOR1A Gene:
TOR1ASOURCE GeneReport for Unigene cluster for TOR1A Gene:
Hs.534312mRNA Expression by UniProt/SwissProt for TOR1A Gene:
O14656-TOR1A_HUMAN
Tissue specificity:
Widely expressed. Highest levels in kidney and liver. In the brain, high levels found in the dopaminergic neurons of the substantia nigra pars compacta, as well as in the neocortex, hippocampus and cerebellum. Also highly expressed in the spinal cord.
Evidence on tissue expression from TISSUES for TOR1A Gene
- Nervous system(4.9)
- Skin(4.5)
- Kidney(4.3)
- Intestine(3.3)
- Blood(2.9)
- Thyroid gland(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TOR1A Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- eye
- eyelid
- face
- head
- larynx
- neck
- vocal cord
Thorax:
- lung
- rib
- rib cage
Pelvis:
- pelvis
Limb:
- digit
- finger
- hand
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs and template standards for TOR1A
-
OriGene qPCR primer pairs for TOR1A
- genomics-online: primer clones - Search results for available TOR1A gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TOR1A Gene
Orthologs for TOR1A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TOR1A 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TOR1A 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | TOR1A 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TOR1A 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Tor1a 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tor1a 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TOR1A 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TOR1A 34 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tor1b 33 |
|
||
| Str.13379 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.15883 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tor1 34 |
|
ManyToMany | |
| tor1l1 34 |
|
ManyToMany | |||
| tor1l3 34 |
|
ManyToMany | |||
| AL954146.4 34 |
|
ManyToMany | |||
| Dr.16695 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009547 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Torsin 34 33 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | tor-1 34 |
|
ManyToMany | |
| ooc-5 34 |
|
ManyToMany | |||
| tor-2 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7178 34 |
|
OneToMany | |
| Cin.9286 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.9286 33 |
|
- Species where no ortholog for TOR1A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for TOR1A Gene
- ENSEMBL:
- Gene Tree for TOR1A (if available)
- TreeFam:
- Gene Tree for TOR1A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TOR1A: view image
Paralogs for TOR1A Gene
Variants for TOR1A Gene
| SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1013037712 | uncertain-significance, Dystonia 1 | 129,812,962(-) | T/C/G | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1038633759 | uncertain-significance, Dystonia 1 | 129,813,349(-) | G/A | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1045441 | likely-benign, Dystonia 1 | 129,813,518(-) | A/T | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1046008277 | uncertain-significance, Dystonia 1 | 129,813,807(-) | C/T | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs114150156 | likely-benign, Dystonia 1 | 129,824,137(-) | A/C | 5_prime_UTR_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv6729 | CNV | insertion | 18451855 |
| nsv1144295 | CNV | deletion | 24896259 |
| nsv1076208 | CNV | deletion | 25765185 |
| nsv1046477 | CNV | gain | 25217958 |
| esv3621839 | CNV | loss | 21293372 |
| dgv1511e214 | CNV | gain | 21293372 |
Residual Variation Intolerance Score:
53.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.56;
72.17% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TOR1A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOR1A Gene
Disorders for TOR1A Gene
(40) MalaCards diseases for TOR1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dystonia 1, torsion, autosomal dominant |
|
|
| early-onset generalized dystonia |
|
|
| dystonia |
|
|
| early-onset generalized limb-onset dystonia |
|
|
| focal dystonia |
|
Search TOR1A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TOR1A_HUMAN- 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:27490483, ECO:0000269 PubMed:9288096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TOR1A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TOR1A Gene
Publications for TOR1A Gene
- DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations. (PMID: 19038309) Yang JF … Chan P (Neuroscience letters 2009) 3 22 44 58
- The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. (PMID: 19202559) Defazio G … Berardelli A (Movement disorders : official journal of the Movement Disorder Society 2009) 3 22 44 58
- High-throughput mutational analysis of TOR1A in primary dystonia. (PMID: 19284587) Xiao J … LeDoux MS (BMC medical genetics 2009) 3 22 44 58
- Genotype-phenotype interactions in primary dystonias revealed by differential changes in brain structure. (PMID: 19344776) Draganski B … Frackowiak RS (NeuroImage 2009) 3 22 44 58
- Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). (PMID: 18477710) Zirn B … Müller U (Journal of neurology, neurosurgery, and psychiatry 2008) 3 4 22 58
Products for TOR1A Gene
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- antibodies-online: Search results for 65 available TOR1A Antibodies ranked by validation data
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- Quality Products:
- GeneTex TOR1A Antibody for TOR1A
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