TOR3A Gene
protein-coding GIFtS: 47
GCID: GC01P179050
|
|
torsin family 3, member A(Previous name: ATP-dependant interferon responsive )
(Previous symbol: ADIR)
| |
Aliases
for TOR3A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Torsin Family 3, Member A1 2 | | FLJ223451 | | ADIR1 2 3 5 | | ATP-Dependant Interferon Response Protein 12 | | ADIR21 2 | | Torsin-3A1 | | ATP-Dependant Interferon Responsive1 2 | | Torsin Family 3 Member A3 | | ATP-Dependent Interferon-Responsive Protein2 3 | | |
Export aliases for TOR3A gene to outside databasesPrevious GC identifers: GC00U990670 GC01P174479 GC01U900786 GC01P176290 GC01P175782 GC01P177317 GC01P150279 |
Summaries
for TOR3A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for TOR3A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004487.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TOR3A gene promoter:
Nkx3-1 Nkx3-1 v4 Pax-5 Nkx3-1 v1 AREB6 Nkx3-1 v2 Chx10 Nkx3-1 v3 SEF-1 (1)
Other transcription factors
Search SABiosciences Chromatin IP Primers for TOR3A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TOR3A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q25.2 Ensembl cytogenetic band: 1q25.2 HGNC cytogenetic band: 1q25.2TOR3A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P179050: view genomic region
(about GC identifiers)
Start:
|
179,050,512 bp from pter |
End:
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179,067,158 bp from pter |
Size:
|
16,647 bases |
Orientation:
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plus strand |
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Proteins
for TOR3A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: TOR3A_HUMAN, Q9H497 (See
protein sequence)Recommended Name: Torsin-3A precursor Size: 397 amino acids; 46199 Da
Subcellular location: Cytoplasm. Endoplasmic reticulum
Secondary accessions: B4DSY0 B7ZB65 Q5M7Y7 Q8WVA7 Q8WWM2 Q9H495 Q9H6E7Alternative splicing: 3 isoforms: Q9H497-1 Q9H497-2 Q9H497-3 Explore the universe of human proteins at neXtProt for TOR3A: NX_Q9H497
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H497
TOR3A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_071766.2
ENSEMBL proteins: ENSP00000356599 ENSP00000356597 ENSP00000435744 ENSP00000335351 ENSP00000410195
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005788 | endoplasmic reticulum lumen |
IDA | -- |
TOR3A for ontologies About GeneDecksing
TOR3A Antibody Products:
Assay Products for TOR3A: |
Protein
Domains /
Families
for TOR3A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TOR3A for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9H497ProtoNet protein and cluster: Q9H497 1 Blocks protein family: IPB010448 Torsin
UniProtKB/Swiss-Prot: TOR3A_HUMAN, Q9H497Similarity: Belongs to the clpA/clpB family. Torsin subfamily |
Function
for TOR3A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOR3A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR3A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: TOR3A (NM_022371) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TOR3A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR3A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR3A |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
TOR3A for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for TOR3A:
|
Pathways & Interactions
for TOR3A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TOR3A
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for TOR3A (ENSP000003565994) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0051085 | chaperone mediated protein folding requiring cofactor |
IEA | -- |
TOR3A for ontologies About GeneDecksing
|
Drugs & Compounds
for TOR3A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for TOR3A
Search CenterWatch for drugs/clinical trials and news about TOR3A
|
Transcripts
for TOR3A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TOR3A gene: NM_022371.3 Unigene Cluster for TOR3A: Torsin family 3, member A Hs.584957 [show with all ESTs]Unigene Representative Sequence: NM_0223717 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000367627(uc001gmd.3 uc010pnd.2) ENST00000367625 ENST00000483887
ENST00000352445 ENST00000472001 ENST00000447595 ENST00000495145
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOR3A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR3A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: TOR3A (NM_022371) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TOR3A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR3A |
Additional cDNA sequence: AJ299403.1 AJ299441.1 AK025998.1 AK130132.1 AK299966.1 AK316530.1 BC001085.1 BC007571.1 BC011746.1 BC018292.1 BC088368.1 CR457354.1 12 DOTS entries: DT.310502 DT.95085651 DT.86850469 DT.100813087 DT.92440113 DT.121446640 DT.100033617 DT.100755319 DT.86847176 DT.100766445 DT.97846344 DT.121446592 24/233 AceView cDNA sequences (see all 233): BQ884301 BQ061399 BF510505 BM905644 BU738533 BU956373 AJ299403 CD365719 CR614363 CR600139 BQ278718 BU623969 AW582913 AA775388 BX355234 BG330135 BQ642330 BG698186 BM824453 BQ422117 BQ691862 BC011746 CD516184 BQ056266
GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for TOR3A (see all 10) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 |
|---|
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| SP1: | | | | | | | | | | | | | - | | - | | | | - | | - | | | | | | | | | | | | | | - | | - | | - | | - | | | | |
| SP2: | | | | | | | | | | | | | - | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | - | | | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | - | | - | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | - | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for TOR3A
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Expression
for TOR3A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TOR3A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTGTTGTAT
About this image
See TOR3A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TOR3A
SOURCE GeneReport for Unigene cluster: Hs.584957
UniProtKB/Swiss-Prot: TOR3A_HUMAN, Q9H497Tissue specificity: Ubiquitously expressed. Highest expression in stomach, salivary glands and lymph nodes. Isoform 2is expressed in placenta
SABiosciences Custom PCR Arrays for TOR3A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TOR3A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TOR3A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TOR3A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TOR3A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR3A |
Orthologs
for TOR3A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for TOR3A gene from 5/19 species (see all 19) About this table
ENSEMBL Gene Tree for TOR3A (if available)
TreeFam Gene Tree for TOR3A (if available) |
Paralogs
for TOR3A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TOR3A gene
- TOR1A2 TOR2A2 TOR4A2 TOR1B2
3 SIMAP similar genes for TOR3A using alignment to 4 protein entries: TOR3A_HUMAN (see all proteins):TOR1B TOR1A TOR2A
TOR3A for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for TOR3A
PGOHUM00000243269
|
Genomic Variants
for TOR3A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TOR3A (179050512 - 179067158 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TOR3A: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TOR3A |
|
Disorders
/ Diseases
for TOR3A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TOR3A for disorders About GeneDecksing
OMIM gene information: 607555
OMIM disorders: --
4  diseases for TOR3A: About MalaCardstorsion dystonia intellectual disability hepatitis b hepatitis
Human Genome Epidemiology (HuGE) Navigator: TOR3A (2 documents)
Export disorders for TOR3A gene to outside databases
|
Publications
for TOR3A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TOR3A gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with TOR3A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins. (PubMed id 11863361)1, 2, 9 Dron M....Tovey M.G. (2002)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. (PubMed id 10644435)1, 3 Ozelius L.J....Breakefield X.O. (1999)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Interaction of torsinA with its major binding partner s is impaired by the dystonia-associated DeltaGAG deletion. (PubMed id 19651773)1 Naismith T.V....Hanson P.I. (2009)
|
External Searches for TOR3A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TOR3A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TOR3A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TOR3A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for TOR3A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TOR3A gene:
Search GeneIP for patents involving TOR3A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TOR3A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for TOR3A | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TOR3A | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TOR3A | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for TOR3A | | OriGene 3'-UTR Clone for TOR3A | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR3A | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOR3A | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TOR3A | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TOR3A | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TOR3A | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TOR3A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TOR3A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TOR3A |
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 | | | TOR3A Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR3A |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR3A |
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