TOR1A Gene (Protein Coding)

Torsin Family 1 Member A

GC09M129812
GIFtS:
44
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] See more...

Aliases for TOR1A Gene

Aliases for TOR1A Gene

  • Torsin Family 1 Member A 2 3 4 5
  • DQ2 2 3 4
  • Dystonia 1, Torsion (Autosomal Dominant; Torsin A) 2 3
  • Dystonia 1 Protein 3 4
  • Torsin ATPase-1A 3 4
  • Torsin-1A 3 4
  • Torsin A 2 3
  • DYT1 3 4
  • Torsin Family 1, Member A (Torsin A) 2
  • Torsin ATPase 1 3
  • EC 3.6.4.- 4
  • TOR1A 5
  • TORA 4
  • TA 4

External Ids for TOR1A Gene

Previous HGNC Symbols for TOR1A Gene

  • DYT1

Previous GeneCards Identifiers for TOR1A Gene

  • GC09M129655
  • GC09M131615
  • GC09M132575
  • GC09M102174

Summaries for TOR1A Gene

Entrez Gene Summary 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 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.

UniProtKB/Swiss-Prot Summary 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.

Gene Wiki entry for TOR1A Gene

Additional gene information for TOR1A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOR1A Gene

Genomics for TOR1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TOR1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TOR1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOR1A

Top Transcription factor binding sites by QIAGEN in the TOR1A gene promoter:
  • AP-2gamma
  • AREB6
  • Arnt
  • ATF6
  • CUTL1
  • E47
  • Lmo2
  • p53
  • Roaz
  • Tal-1

Genomic Locations for TOR1A Gene

Genomic Locations for TOR1A Gene
chr9:129,812,942-129,824,244
(GRCh38/hg38)
Size:
11,303 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:
TOR1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOR1A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TOR1A Gene

Proteins for TOR1A Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for TOR1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14656-TOR1A_HUMAN
    Recommended name:
    Torsin-1A
    Protein Accession:
    O14656
    Secondary Accessions:
    • 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.

    Three dimensional structures from OCA and Proteopedia for TOR1A Gene

    Alternative splice isoforms for TOR1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOR1A Gene

Protein Expression for TOR1A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TOR1A Gene

  • N-glycosylated.
  • Glycosylation at Asn143 and Asn158
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TOR1A_HUMAN (1821)

Other Protein References for TOR1A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for TOR1A

No data available for DME Specific Peptides for TOR1A Gene

Domains & Families for TOR1A Gene

Gene Families for TOR1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TOR1A Gene

InterPro:
Blocks:
  • Torsin
ProtoNet:

Suggested Antigen Peptide Sequences for TOR1A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56343, highly similar to Torsin A (B4DGM9_HUMAN)
  • Torsin family 1 member A (TOR1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14656

UniProtKB/Swiss-Prot:

TOR1A_HUMAN :
  • Belongs to the ClpA/ClpB family. Torsin subfamily.
Family:
  • Belongs to the ClpA/ClpB family. Torsin subfamily.
genes like me logo Genes that share domains with TOR1A: view

Function for TOR1A Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

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:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:23569223};.
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

Gene Ontology (GO) - Molecular Function for TOR1A Gene

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 --
genes like me logo Genes that share ontologies with TOR1A: view
genes like me logo Genes that share phenotypes with TOR1A: view

Human Phenotype Ontology for TOR1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TOR1A Gene

MGI Knock Outs for TOR1A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TOR1A gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
endoplasmic reticulum 5
cytosol 4
plasma membrane 2
mitochondrion 2
endosome 2
golgi apparatus 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TOR1A Gene

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
genes like me logo Genes that share ontologies with TOR1A: view

Pathways & Interactions for TOR1A Gene

genes like me logo Genes that share pathways with TOR1A: view

Pathways by source for TOR1A Gene

1 BioSystems pathway for TOR1A Gene
2 Cell Signaling Technology pathways for TOR1A Gene

SIGNOR curated interactions for TOR1A Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TOR1A Gene

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
genes like me logo Genes that share ontologies with TOR1A: view

Drugs & Compounds for TOR1A Gene

Products:

  1. Drug

(2) Drugs for TOR1A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for TOR1A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TOR1A: view

Transcripts for TOR1A Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TOR1A Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR1A

Alternative Splicing Database (ASD) splice patterns (SP) for TOR1A Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
SP1: - -
SP2: - -
SP3: -
SP4: - -
SP5:
SP6:

Relevant External Links for TOR1A Gene

GeneLoc Exon Structure for
TOR1A

Expression for TOR1A Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TOR1A Gene

mRNA expression in normal human tissues for TOR1A Gene
mRNA expression by GTEx for TOR1A GenemRNA expression by BioGPS for TOR1A Gene

Protein differential expression in normal tissues from HIPED 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



Protein tissue co-expression partners for TOR1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOR1A

SOURCE GeneReport for Unigene cluster for TOR1A Gene:

Hs.534312

mRNA 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(4.7)
  • Kidney(4.5)
  • Intestine(3.5)
  • Blood(3.2)
  • Muscle(3.1)
  • Thyroid gland(2.9)
  • Lymph node(2.6)
  • Spleen(2.6)
  • Pancreas(2.5)
  • Liver(2.5)
  • Bone marrow(2.4)
  • Heart(2.4)
  • Stomach(2.4)
  • Adrenal gland(2.3)
  • Lung(2.1)

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
genes like me logo Genes that share expression patterns with TOR1A: view

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.

Orthologs for TOR1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TOR1A 30 31
  • 99.6 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TOR1A 30 31
  • 91.03 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TOR1A 31
  • 91 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TOR1A 30 31
  • 90.28 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tor1a 30 17 31
  • 86.14 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tor1a 30
  • 86.04 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia TOR1A 31
  • 84 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TOR1A 30 31
  • 75.56 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tor1b 30
  • 66.87 (n)
Str.13379 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.15883 30
Zebrafish
(Danio rerio)
 Actinopterygii tor1 31
  • 56 (a)
 ManyToMany
tor1l1 31
  • 47 (a)
 ManyToMany
tor1l3 31
  • 45 (a)
 ManyToMany
AL954146.4 31
  • 43 (a)
 ManyToMany
Dr.16695 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009547 30
  • 50.85 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Torsin 30 31
  • 49.26 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea tor-1 31
  • 37 (a)
 ManyToMany
ooc-5 31
  • 34 (a)
 ManyToMany
tor-2 31
  • 31 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.7178 31
  • 39 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.9286 30
Species where no ortholog for TOR1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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

Paralogs for TOR1A Gene

(3) SIMAP similar genes for TOR1A Gene using alignment to 2 proteins:

  • TOR1A_HUMAN
  • B4DGM9_HUMAN
genes like me logo Genes that share paralogs with TOR1A: view

Variants for TOR1A Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOR1A Gene

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

Additional dbSNP identifiers (rs#s) for TOR1A Gene

Structural Variations from Database of Genomic Variants (DGV) for TOR1A Gene

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

Variation tolerance for TOR1A Gene

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

Human Gene Mutation Database (HGMD)
TOR1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOR1A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOR1A Gene

Disorders for TOR1A Gene

MalaCards: The human disease database

(62) MalaCards diseases for TOR1A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dystonia 1, torsion, autosomal dominant
  • dyt1
dystonia
  • dystonic disease
early-onset generalized limb-onset dystonia
  • dystonia 1, torsion, autosomal dominant
focal dystonia
  • dystonia, focal, task-specific
dystonia 11, myoclonic
  • dyt11
- elite association - COSMIC cancer census association via MalaCards
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
Open Targets Platform
genes like me logo Genes that share disorders with TOR1A: view

No data available for Genatlas for TOR1A Gene

Publications for TOR1A Gene

  1. 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 23 41
  2. Genotype-phenotype interactions in primary dystonias revealed by differential changes in brain structure. (PMID: 19344776) Draganski B … Frackowiak RS (NeuroImage 2009) 3 23 41
  3. High-throughput mutational analysis of TOR1A in primary dystonia. (PMID: 19284587) Xiao J … LeDoux MS (BMC medical genetics 2009) 3 23 41
  4. 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 23 41
  5. 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 23

ExternalLinks

View latest publications for TOR1A gene in Mastermind

Products for TOR1A Gene

  • Addgene plasmids for TOR1A
  • Signalway Proteins for TOR1A

Sources for TOR1A Gene