TOR1B Gene
protein-coding GIFtS: 52
GCID: GC09P132565
|
|
torsin family 1, member B (torsin B)
| |
Aliases for TOR1B 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 1, Member B (Torsin B)1 2 | | DQ11 2 3 5 | | Torsin Family 1 Member B2 3 | | MGC43861 | | Torsin-1B1 |
Export aliases for TOR1B gene to outside databasesPrevious GC identifers: GC09P123680 GC09P124211 GC09P126019 GC09P127941 GC09P129644 GC09P131605 GC09P102164 |
Summaries for TOR1B gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: TOR1B_HUMAN, O14657Function: May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins (Bysimilarity)
|
Genomic Views for TOR1B 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_000009.11 NC_018920.1 NT_008470.19
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TOR1B gene promoter: HOXA9B HOXA9 C/EBPbeta RFX1 HOXA3 AP-1 HNF-3beta AREB6 SEF-1 (1) MRF-2 Other transcription factors
Search SABiosciences Chromatin IP Primers for TOR1B
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TOR1B |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q34 Ensembl cytogenetic band: 9q34.11 HGNC cytogenetic band: 9q34TOR1B Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09P132565: view genomic region
(about GC identifiers)
Start:
|
132,565,432 bp from pter |
End:
|
132,573,560 bp from pter |
Size:
|
8,129 bases |
Orientation:
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plus strand |
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Proteins for TOR1B 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: TOR1B_HUMAN, O14657 (See
protein sequence)Recommended Name: Torsin-1B precursor Size: 336 amino acids; 37979 Da
Subcellular location: Endoplasmic reticulum lumen (By similarity)Explore the universe of human proteins at neXtProt for TOR1B: NX_O14657
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O14657 TOR1B Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_055321.1 ENSEMBL proteins: ENSP00000259339 ENSP00000411912 Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
TOR1B for ontologies About GeneDecksing
TOR1B Antibody Products: Assay Products for TOR1B: |
Protein
Domains / Families for TOR1B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TOR1B for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O14657ProtoNet protein and cluster: O14657 1 Blocks protein family: IPB010448 Torsin
UniProtKB/Swiss-Prot: TOR1B_HUMAN, O14657Similarity: Belongs to the clpA/clpB family. Torsin subfamily |
Function for TOR1B 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
| Function Summary: UniProtKB/Swiss-Prot: TOR1B_HUMAN, O14657Function: May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins (Bysimilarity) Genatlas biochemistry entry for TOR1B:torsin 1B ATP binding protein,homolog to TOR1A,and tightly linked to it in opposite orientation
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 TOR1B (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1B (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: TOR1B (NM_014506) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TOR1B | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1B  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1B |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
TOR1B for ontologies About GeneDecksing
|
Pathways & Interactions for TOR1B 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 TOR1B
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
 5 Interacting proteins for TOR1B (O146573 ENSP000002593394) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006986 | response to unfolded protein |
TAS | 10644435 | | GO:0051085 | chaperone mediated protein folding requiring cofactor |
IEA | -- | | GO:0051260 | protein homooligomerization |
IDA | -- | | GO:0071763 | nuclear membrane organization |
IEA | -- |
TOR1B for ontologies About GeneDecksing
|
Drugs & Compounds for TOR1B 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 TOR1B Search CenterWatch for drugs/clinical trials and news about TOR1B 
|
Transcripts for TOR1B 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 TOR1B gene: NM_014506.1 Unigene Cluster for TOR1B: Torsin family 1, member B (torsin B) Hs.252682 [show with all ESTs]Unigene Representative Sequence: NM_0145064 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000259339(uc004byk.1) ENST00000486372 ENST00000427860 ENST00000488169
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1B (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1B (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: TOR1B (NM_014506) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TOR1B | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1B  |
Additional cDNA sequence: AF007872.1 AF317129.1 BC006480.1 BC015578.2 11 DOTS entries: DT.316343 DT.316344 DT.92454479 DT.121191278 DT.102823660 DT.95235004 DT.121191224 DT.92454475 DT.95082154 DT.95082153 DT.95113799 24/177 AceView cDNA sequences (see all 177): CB529771 AI336026 AW160403 AW768777 CB528968 AI493923 AI815528 BM995201 AA627547 N46242 BC015578 BU543176 AA834420 AW877039 BP366330 AL044942 BE893335 BQ940975 AA973647 AA610045 BQ669219 BC006480 F12854 BF856906 GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for TOR1B (see all 8) About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | |
| SP1: | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP4: | |   | |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | - |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   |
ECgene alternative splicing isoforms for TOR1B
|
Expression for TOR1B 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
| TOR1B expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GAAATGCCTT
About this image See TOR1B Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TOR1B
SOURCE GeneReport for Unigene cluster: Hs.252682 UniProtKB/Swiss-Prot: TOR1B_HUMAN, O14657Tissue specificity: Widely expressed with low levels in brain. Not detected in fetal brain SABiosciences Custom PCR Arrays for TOR1B
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TOR1B Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TOR1B | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TOR1B | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TOR1B | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1B |
Orthologs for TOR1B 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 TOR1B gene from 5/19 species (see all 19) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
TOR1B1 |
torsin family 1, member B (torsin B) |
71.88(n) 72.09(a) |
  |
417191 XM_415473.3 XP_415473.2 |
tropical clawed frog (Xenopus tropicalis) |
Amphibia |
Str.14102 |
Transcribed sequence with weak similarity to protein more |
74.08(n) |
  |
BX716960.1 |
zebrafish (Danio rerio) |
Actinopterygii |
wufj81e012 |
Danio rerio, similar to torsion, clone IMAGE5916314, more |
76.11(n) |
  |
BC050957.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
torp4a3 |
protein folding chaperone |
35(a) |
  |
4C11 -- |
worm (Caenorhabditis elegans) |
Secernentea |
tor-21 , 3 |
Protein TOR-21 |
41(a) (best of 2)3 50.65(n)1 42.4(a)1 |
  |
IV(13982853-13984335)3 1896061 NM_070282.11 NP_502683.11 |
ENSEMBL Gene Tree for TOR1B (if available) TreeFam Gene Tree for TOR1B (if available)  |
Paralogs for TOR1B gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for TOR1B gene
- TOR1A2 TOR2A2 TOR4A2 TOR3A2
3 SIMAP similar genes for TOR1B using alignment to 3 protein entries: TOR1B_HUMAN (see all proteins):TOR1A TOR3A TOR2A
TOR1B for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for TOR1B PGOHUM00000240098
|
Genomic Variants for TOR1B 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 9 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for TOR1B (132565432 - 132573560 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for TOR1B: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TOR1B |
|
Disorders
/ Diseases for TOR1B 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
|
TOR1B for disorders About GeneDecksing
OMIM gene information: 608050
OMIM disorders: --
4 diseases for TOR1B: About MalaCardstorsion dystonia focal dystonia hepatocellular carcinoma carcinoma Human Genome Epidemiology (HuGE) Navigator: TOR1B (2 documents) Export disorders for TOR1B gene to outside databases
|
Publications for TOR1B 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 TOR1B gene, integrated from 9 sources (see all 12): (articles sorted by number of sources associating them with TOR1B) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. (PubMed id 9288096)1, 2, 3 Ozelius L.J.... Breakefield X.O. (1997)
- The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. (PubMed id 10644435)1, 3, 9 Ozelius L.J....Breakefield X.O. (1999)
- 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)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Proteomic dissection of cell type-specific H2AX-inter acting protein complex associated with hepatocellular carcinoma. (PubMed id 20000738)1 Yang X....Chen X. (2010)
- Genetic evidence for an association of the TOR1A locu s with segmental/focal dystonia. (PubMed id 20669276)1 Sharma N....Ozelius L.J. (2010)
- TorsinB expression in the developing human brain. (PubMed id 16938275)1 Bahn E....Rostasy K.M. (2006)
- Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. (PubMed id 17130424)1 Kamm C....Gasser T. (2006)
- TorsinB--perinuclear location and association with torsinA. (PubMed id 15147511)1 Hewett J.W....Ramesh V. (2004)
|
External Searches for TOR1B gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing TOR1B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TOR1B gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TOR1B 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 TOR1B | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TOR1B gene: Search GeneIP for patents involving TOR1B
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for TOR1B 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
|
 | |
 | |
 |
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| | | Search Tocris compounds for TOR1B |
| |  |  |  |  | | | | |
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 |
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 | | TOR1B Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1B |
|  |  |  | | | ThermoFisher Antibodies for TOR1B |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1B |
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