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TOR1A (torsin family 1 member A)

Identity

Alias_namesDYT1
dystonia 1, torsion (autosomal dominant; torsin A)
torsin family 1, member A (torsin A)
Alias_symbol (synonym)DQ2
Other alias
HGNC (Hugo) TOR1A
LocusID (NCBI) 1861
Atlas_Id 56306
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 129812942 and ends at 129824162 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TOR1A (9q34.11) / PTGES3 (12q13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TOR1A   3098
LRG (Locus Reference Genomic)LRG_1029
Cards
Entrez_Gene (NCBI)TOR1A  1861  torsin family 1 member A
AliasesDQ2; DYT1
GeneCards (Weizmann)TOR1A
Ensembl hg19 (Hinxton)ENSG00000136827 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136827 [Gene_View]  chr9:129812942-129824162 [Contig_View]  TOR1A [Vega]
ICGC DataPortalENSG00000136827
TCGA cBioPortalTOR1A
AceView (NCBI)TOR1A
Genatlas (Paris)TOR1A
WikiGenes1861
SOURCE (Princeton)TOR1A
Genetics Home Reference (NIH)TOR1A
Genomic and cartography
GoldenPath hg38 (UCSC)TOR1A  -     chr9:129812942-129824162 -  9q34.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TOR1A  -     9q34.11   [Description]    (hg19-Feb_2009)
EnsemblTOR1A - 9q34.11 [CytoView hg19]  TOR1A - 9q34.11 [CytoView hg38]
Mapping of homologs : NCBITOR1A [Mapview hg19]  TOR1A [Mapview hg38]
OMIM128100   605204   
Gene and transcription
Genbank (Entrez)AF007871 AK056062 AK075343 AK130769 AK294677
RefSeq transcript (Entrez)NM_000113
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TOR1A
Cluster EST : UnigeneHs.534312 [ NCBI ]
CGAP (NCI)Hs.534312
Alternative Splicing GalleryENSG00000136827
Gene ExpressionTOR1A [ NCBI-GEO ]   TOR1A [ EBI - ARRAY_EXPRESS ]   TOR1A [ SEEK ]   TOR1A [ MEM ]
Gene Expression Viewer (FireBrowse)TOR1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1861
GTEX Portal (Tissue expression)TOR1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14656   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14656  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14656
Splice isoforms : SwissVarO14656
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   
PhosPhoSitePlusO14656
Domains : Interpro (EBI)P-loop_NTPase    Torsin    Torsin-1A    Torsin_1/2   
Domain families : Pfam (Sanger)Torsin (PF06309)   
Domain families : Pfam (NCBI)pfam06309   
Conserved Domain (NCBI)TOR1A
DMDM Disease mutations1861
Blocks (Seattle)TOR1A
PDB (SRS)5J1S    5J1T   
PDB (PDBSum)5J1S    5J1T   
PDB (IMB)5J1S    5J1T   
PDB (RSDB)5J1S    5J1T   
Structural Biology KnowledgeBase5J1S    5J1T   
SCOP (Structural Classification of Proteins)5J1S    5J1T   
CATH (Classification of proteins structures)5J1S    5J1T   
SuperfamilyO14656
Human Protein AtlasENSG00000136827
Peptide AtlasO14656
HPRD06897
IPIIPI00386422   IPI00902990   IPI00413293   
Protein Interaction databases
DIP (DOE-UCLA)O14656
IntAct (EBI)O14656
FunCoupENSG00000136827
BioGRIDTOR1A
STRING (EMBL)TOR1A
ZODIACTOR1A
Ontologies - Pathways
QuickGOO14656
Ontology : AmiGOprotein deneddylation  protein binding  ATP binding  nuclear envelope  endoplasmic reticulum  endoplasmic reticulum lumen  cytosol  cytoskeleton  response to oxidative stress  organelle organization  nuclear envelope organization  cell adhesion  synaptic vesicle  cytoskeletal protein binding  membrane  ATPase activity  kinesin binding  cell junction  secretory granule  growth cone  cytoplasmic vesicle membrane  neuron projection development  nuclear membrane  protein localization to nucleus  protein localization to nucleus  extrinsic component of endoplasmic reticulum membrane  intracellular membrane-bounded organelle  wound healing, spreading of cells  intermediate filament cytoskeleton organization  synaptic vesicle transport  unfolded protein binding  chaperone mediated protein folding requiring cofactor  protein homooligomerization  regulation of dopamine uptake involved in synaptic transmission  misfolded protein binding  chaperone-mediated protein folding  extracellular exosome  ER-associated misfolded protein catabolic process  nuclear membrane organization  chaperone-mediated protein transport  positive regulation of synaptic vesicle endocytosis  regulation of protein localization to cell surface  
Ontology : EGO-EBIprotein deneddylation  protein binding  ATP binding  nuclear envelope  endoplasmic reticulum  endoplasmic reticulum lumen  cytosol  cytoskeleton  response to oxidative stress  organelle organization  nuclear envelope organization  cell adhesion  synaptic vesicle  cytoskeletal protein binding  membrane  ATPase activity  kinesin binding  cell junction  secretory granule  growth cone  cytoplasmic vesicle membrane  neuron projection development  nuclear membrane  protein localization to nucleus  protein localization to nucleus  extrinsic component of endoplasmic reticulum membrane  intracellular membrane-bounded organelle  wound healing, spreading of cells  intermediate filament cytoskeleton organization  synaptic vesicle transport  unfolded protein binding  chaperone mediated protein folding requiring cofactor  protein homooligomerization  regulation of dopamine uptake involved in synaptic transmission  misfolded protein binding  chaperone-mediated protein folding  extracellular exosome  ER-associated misfolded protein catabolic process  nuclear membrane organization  chaperone-mediated protein transport  positive regulation of synaptic vesicle endocytosis  regulation of protein localization to cell surface  
NDEx NetworkTOR1A
Atlas of Cancer Signalling NetworkTOR1A
Wikipedia pathwaysTOR1A
Orthology - Evolution
OrthoDB1861
GeneTree (enSembl)ENSG00000136827
Phylogenetic Trees/Animal Genes : TreeFamTOR1A
HOVERGENO14656
HOGENOMO14656
Homologs : HomoloGeneTOR1A
Homology/Alignments : Family Browser (UCSC)TOR1A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTOR1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TOR1A
dbVarTOR1A
ClinVarTOR1A
1000_GenomesTOR1A 
Exome Variant ServerTOR1A
ExAC (Exome Aggregation Consortium)TOR1A (select the gene name)
Genetic variants : HAPMAP1861
Genomic Variants (DGV)TOR1A [DGVbeta]
DECIPHERTOR1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTOR1A 
Mutations
ICGC Data PortalTOR1A 
TCGA Data PortalTOR1A 
Broad Tumor PortalTOR1A
OASIS PortalTOR1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTOR1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTOR1A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TOR1A
DgiDB (Drug Gene Interaction Database)TOR1A
DoCM (Curated mutations)TOR1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TOR1A (select a term)
intoGenTOR1A
Cancer3DTOR1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM128100    605204   
Orphanet3643    10437   
MedgenTOR1A
Genetic Testing Registry TOR1A
NextProtO14656 [Medical]
TSGene1861
GENETestsTOR1A
Target ValidationTOR1A
Huge Navigator TOR1A [HugePedia]
snp3D : Map Gene to Disease1861
BioCentury BCIQTOR1A
ClinGenTOR1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1861
Chemical/Pharm GKB GenePA27556
Clinical trialTOR1A
Miscellaneous
canSAR (ICR)TOR1A (select the gene name)
Probes
Litterature
PubMed178 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTOR1A
EVEXTOR1A
GoPubMedTOR1A
iHOPTOR1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:35:52 CEST 2017

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