Human Gene TOR1B (ENST00000259339.7_4) from GENCODE V47lift37
  Description: torsin family 1 member B, transcript variant 6 (from RefSeq NR_134113.2)
Gencode Transcript: ENST00000259339.7_4
Gencode Gene: ENSG00000136816.16_7
Transcript (Including UTRs)
   Position: hg19 chr9:132,565,463-132,573,560 Size: 8,098 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr9:132,565,492-132,571,862 Size: 6,371 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:132,565,463-132,573,560)mRNA (may differ from genome)Protein (336 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TOR1B_HUMAN
DESCRIPTION: RecName: Full=Torsin-1B; AltName: Full=Torsin family 1 member B; Flags: Precursor;
FUNCTION: May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen (By similarity).
TISSUE SPECIFICITY: Widely expressed with low levels in brain. Not detected in fetal brain.
SIMILARITY: Belongs to the clpA/clpB family. Torsin subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TOR1B
Diseases sorted by gene-association score: acute endophthalmitis (2), purulent endophthalmitis (1), kleine-levin hibernation syndrome (1), sleep disorder (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.81 RPKM in Cells - Cultured fibroblasts
Total median expression: 368.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.9029-0.307 Picture PostScript Text
3' UTR -553.101698-0.326 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR010448 - Torsin
IPR017378 - Torsin_subgr

Pfam Domains:
PF00004 - ATPase family associated with various cellular activities (AAA)
PF06309 - Torsin

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53474 - alpha/beta-Hydrolases

ModBase Predicted Comparative 3D Structure on O14657
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0016887 ATPase activity

Biological Process:
GO:0006986 response to unfolded protein
GO:0007029 endoplasmic reticulum organization
GO:0051085 chaperone mediated protein folding requiring cofactor
GO:0051260 protein homooligomerization
GO:0071763 nuclear membrane organization

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0016020 membrane
GO:0031965 nuclear membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AF317129 - Homo sapiens FKSG18 (FKSG18) mRNA, complete cds.
LQ878903 - Sequence 18 from Patent WO2018154075.
JD140033 - Sequence 121057 from Patent EP1572962.
JD406463 - Sequence 387487 from Patent EP1572962.
BC015578 - Homo sapiens torsin family 1, member B (torsin B), mRNA (cDNA clone MGC:23242 IMAGE:4589479), complete cds.
KJ893644 - Synthetic construct Homo sapiens clone ccsbBroadEn_03038 TOR1B gene, encodes complete protein.
DQ893204 - Synthetic construct clone IMAGE:100005834; FLH195195.01X; RZPDo839E0884D torsin family 1, member B (torsin B) (TOR1B) gene, encodes complete protein.
DQ893205 - Synthetic construct clone IMAGE:100005835; FLH195197.01X; RZPDo839G0884D torsin family 1, member B (torsin B) (TOR1B) gene, encodes complete protein.
DQ893696 - Synthetic construct clone IMAGE:100006326; FLH195198.01X; RZPDo839H0884D torsin family 1, member B (torsin B) (TOR1B) gene, encodes complete protein.
DQ896532 - Synthetic construct Homo sapiens clone IMAGE:100010992; FLH195193.01L; RZPDo839C0884D torsin family 1, member B (torsin B) (TOR1B) gene, encodes complete protein.
DQ896533 - Synthetic construct Homo sapiens clone IMAGE:100010993; FLH195194.01L; RZPDo839D0884D torsin family 1, member B (torsin B) (TOR1B) gene, encodes complete protein.
DQ896867 - Synthetic construct Homo sapiens clone IMAGE:100011327; FLH195191.01L; RZPDo839A0884D torsin family 1, member B (torsin B) (TOR1B) gene, encodes complete protein.
AF007872 - Homo sapiens torsinB (DQ1) mRNA, partial cds.
JD219310 - Sequence 200334 from Patent EP1572962.
JD405333 - Sequence 386357 from Patent EP1572962.
JD190113 - Sequence 171137 from Patent EP1572962.
JD141180 - Sequence 122204 from Patent EP1572962.
JD432697 - Sequence 413721 from Patent EP1572962.
JD293867 - Sequence 274891 from Patent EP1572962.
BC006480 - Homo sapiens torsin family 1, member B (torsin B), mRNA (cDNA clone IMAGE:2905299), complete cds.
JD566810 - Sequence 547834 from Patent EP1572962.
JD366931 - Sequence 347955 from Patent EP1572962.
JD325100 - Sequence 306124 from Patent EP1572962.
JD150020 - Sequence 131044 from Patent EP1572962.
JD249047 - Sequence 230071 from Patent EP1572962.
JD376237 - Sequence 357261 from Patent EP1572962.
JD521201 - Sequence 502225 from Patent EP1572962.
JD131282 - Sequence 112306 from Patent EP1572962.
JD511346 - Sequence 492370 from Patent EP1572962.
JD095575 - Sequence 76599 from Patent EP1572962.
JD307909 - Sequence 288933 from Patent EP1572962.
JD490291 - Sequence 471315 from Patent EP1572962.
JD505406 - Sequence 486430 from Patent EP1572962.
JD348845 - Sequence 329869 from Patent EP1572962.
JD262902 - Sequence 243926 from Patent EP1572962.
JD056098 - Sequence 37122 from Patent EP1572962.
JD479876 - Sequence 460900 from Patent EP1572962.
JD208512 - Sequence 189536 from Patent EP1572962.
JD272101 - Sequence 253125 from Patent EP1572962.
JD225966 - Sequence 206990 from Patent EP1572962.
JD283980 - Sequence 265004 from Patent EP1572962.
JD304997 - Sequence 286021 from Patent EP1572962.
JD518966 - Sequence 499990 from Patent EP1572962.
JD469484 - Sequence 450508 from Patent EP1572962.
JD396615 - Sequence 377639 from Patent EP1572962.
JD327299 - Sequence 308323 from Patent EP1572962.
JD273751 - Sequence 254775 from Patent EP1572962.
JD302976 - Sequence 284000 from Patent EP1572962.
JD078673 - Sequence 59697 from Patent EP1572962.
JD275080 - Sequence 256104 from Patent EP1572962.
JD056398 - Sequence 37422 from Patent EP1572962.
JD401480 - Sequence 382504 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O14657 (Reactome details) participates in the following event(s):

R-HSA-8863721 NEDD8-STON binds TOR1 hexamer and COP9 complex
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: DQ1, ENST00000259339.1, ENST00000259339.2, ENST00000259339.3, ENST00000259339.4, ENST00000259339.5, ENST00000259339.6, FKSG18, NR_134113, O14657, TOR1B_HUMAN, uc317gge.1, uc317gge.2
UCSC ID: ENST00000259339.7_4
RefSeq Accession: NM_014506.3
Protein: O14657 (aka TOR1B_HUMAN or TO1B_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.