The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic... See more...

Aliases for TOR1B Gene

Aliases for TOR1B Gene

  • Torsin Family 1 Member B 2 3 4 5
  • DQ1 2 3 4
  • Torsin ATPase-1B 3 4
  • Torsin-1B 3 4
  • Torsin B 2 3
  • Torsin Family 1, Member B (Torsin B) 2
  • EC 3.6.4.- 4
  • MGC4386 2
  • TOR1B 5

External Ids for TOR1B Gene

Previous GeneCards Identifiers for TOR1B Gene

  • GC09P123680
  • GC09P124211
  • GC09P126019
  • GC09P127941
  • GC09P129644
  • GC09P131605
  • GC09P132565
  • GC09P102164

Summaries for TOR1B Gene

Entrez Gene Summary for TOR1B Gene

  • The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic reticulum. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for TOR1B Gene

TOR1B (Torsin Family 1 Member B) is a Protein Coding gene. Diseases associated with TOR1B include Acute Endophthalmitis and Focal Dystonia. Among its related pathways are Clathrin-mediated endocytosis and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include ATPase activity. An important paralog of this gene is TOR1A.

UniProtKB/Swiss-Prot Summary for TOR1B Gene

  • May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. Plays a role in non-neural cells nuclear envelope and endoplasmic reticulum integrity. May have a redundant function with TOR1A in non-neural tissues.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOR1B Gene

Genomics for TOR1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TOR1B 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 TOR1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOR1B

Top Transcription factor binding sites by QIAGEN in the TOR1B gene promoter:
  • AP-1
  • AREB6
  • C/EBPbeta
  • HNF-3beta
  • HOXA3
  • HOXA9
  • HOXA9B
  • MRF-2
  • RFX1
  • SEF-1 (1)

Genomic Locations for TOR1B Gene

Latest Assembly
chr9:129,803,143-129,811,424
(GRCh38/hg38)
Size:
8,282 bases
Orientation:
Plus strand

Previous Assembly
chr9:132,565,463-132,573,560
(GRCh37/hg19 by Entrez Gene)
Size:
8,098 bases
Orientation:
Plus strand

chr9:132,565,432-132,573,560
(GRCh37/hg19 by Ensembl)
Size:
8,129 bases
Orientation:
Plus strand

Genomic View for TOR1B Gene

Genes around TOR1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOR1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOR1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOR1B Gene

Proteins for TOR1B Gene

  • Protein details for TOR1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14657-TOR1B_HUMAN
    Recommended name:
    Torsin-1B
    Protein Accession:
    O14657

    Protein attributes for TOR1B Gene

    Size:
    336 amino acids
    Molecular mass:
    37979 Da
    Quaternary structure:
    • Homohexamer. Interacts with TOR1A; the interaction may be specific of neural tissues. Interacts with TOR1AIP1; TOR1AIP1 is required for TOR1B location on the nuclear membrane. Interacts (ATP-bound) with TOR1AIP2; important for endoplasmic reticulum integrity.

neXtProt entry for TOR1B Gene

Post-translational modifications for TOR1B Gene

  • N-glycosylated.
  • Glycosylation at Ser38, Thr41, Asn64, and Asn165
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TOR1B_HUMAN (1824)

Other Protein References for TOR1B Gene

No data available for DME Specific Peptides for TOR1B Gene

Domains & Families for TOR1B Gene

Gene Families for TOR1B Gene

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

Protein Domains for TOR1B Gene

InterPro:
Blocks:
  • Torsin

Suggested Antigen Peptide Sequences for TOR1B Gene

GenScript: Design optimal peptide antigens:
  • Torsin family 1, member B (Torsin B) (Q96LG7_HUMAN)
  • TOR1B protein (Q9BR69_HUMAN)
  • Torsin family 1 member B (TOR1B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14657

UniProtKB/Swiss-Prot:

TOR1B_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 TOR1B: view

Function for TOR1B Gene

Molecular function for TOR1B Gene

UniProtKB/Swiss-Prot Function:
May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. Plays a role in non-neural cells nuclear envelope and endoplasmic reticulum integrity. May have a redundant function with TOR1A 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, ECO:0000269|PubMed:24275647};.
GENATLAS Biochemistry:
torsin 1B ATP binding protein,homolog to TOR1A,and tightly linked to it in opposite orientation

Enzyme Numbers (IUBMB) for TOR1B Gene

Phenotypes From GWAS Catalog for TOR1B Gene

Gene Ontology (GO) - Molecular Function for TOR1B 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:0016787 hydrolase activity IEA --
GO:0016887 ATPase activity IBA,IDA 20015956
genes like me logo Genes that share ontologies with TOR1B: view

Phenotypes for TOR1B Gene

genes like me logo Genes that share phenotypes with TOR1B: view

miRNA for TOR1B Gene

miRTarBase miRNAs that target TOR1B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR1B

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TOR1B Gene

Localization for TOR1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOR1B Gene

Endoplasmic reticulum lumen. Nucleus membrane.

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 TOR1B gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 5
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nuclear speckles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TOR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA,IDA 15147511
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA 15147511
GO:0005788 endoplasmic reticulum lumen IBA,IDA 20015956
genes like me logo Genes that share ontologies with TOR1B: view

Pathways & Interactions for TOR1B Gene

genes like me logo Genes that share pathways with TOR1B: view

Gene Ontology (GO) - Biological Process for TOR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006986 response to unfolded protein TAS 10644435
GO:0007029 endoplasmic reticulum organization IEA,IDA 24275647
GO:0034504 protein localization to nucleus IBA 21873635
GO:0051085 chaperone cofactor-dependent protein refolding IEA --
GO:0071763 nuclear membrane organization IEA,IBA 21873635
genes like me logo Genes that share ontologies with TOR1B: view

No data available for SIGNOR curated interactions for TOR1B Gene

Drugs & Compounds for TOR1B Gene

No Compound Related Data Available

Transcripts for TOR1B Gene

mRNA/cDNA for TOR1B Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR1B

Alternative Splicing Database (ASD) splice patterns (SP) for TOR1B Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b
SP1: - - -
SP2: - - -
SP3: -
SP4: - -
SP5: - - - - - - - -
SP6: - - - - - -
SP7: -
SP8:

Relevant External Links for TOR1B Gene

GeneLoc Exon Structure for
TOR1B

Expression for TOR1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TOR1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TOR1B Gene

This gene is overexpressed in Islet of Langerhans (6.9) and Gallbladder (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TOR1B Gene



Protein tissue co-expression partners for TOR1B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOR1B

SOURCE GeneReport for Unigene cluster for TOR1B Gene:

Hs.252682

mRNA Expression by UniProt/SwissProt for TOR1B Gene:

O14657-TOR1B_HUMAN
Tissue specificity: Widely expressed with low levels in brain.

Evidence on tissue expression from TISSUES for TOR1B Gene

  • Nervous system(4.6)
  • Kidney(4.4)
  • Liver(4.3)
  • Blood(2.2)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with TOR1B: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOR1B Gene

Orthologs for TOR1B Gene

This gene was present in the common ancestor of animals.

Orthologs for TOR1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TOR1B 29 30
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TOR1B 29 30
  • 89.63 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TOR1B 29 30
  • 88.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tor1b 29 16 30
  • 86.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tor1b 29
  • 86.75 (n)
Oppossum
(Monodelphis domestica)
Mammalia TOR1B 30
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TOR1B 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TOR1B 29 30
  • 72.22 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tor1a 29
  • 65.59 (n)
Str.1410 29
Zebrafish
(Danio rerio)
Actinopterygii tor1 29 30
  • 64.09 (n)
ManyToMany
tor1l1 30
  • 46 (a)
ManyToMany
tor1l3 30
  • 44 (a)
ManyToMany
AL954146.4 30
  • 41 (a)
ManyToMany
wufj81e01 29
Fruit Fly
(Drosophila melanogaster)
Insecta torp4a 31
  • 35 (a)
Torsin 30
  • 33 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tor-2 29 30 31
  • 50.65 (n)
ManyToMany
tor-1 30 31
  • 36 (a)
ManyToMany
ooc-5 30
  • 35 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7178 30
  • 37 (a)
OneToMany
Species where no ortholog for TOR1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 Vase (Ciona intestinalis)
  • 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 TOR1B Gene

ENSEMBL:
Gene Tree for TOR1B (if available)
TreeFam:
Gene Tree for TOR1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TOR1B: view image
Alliance of Genome Resources:
Additional Orthologs for TOR1B

Paralogs for TOR1B Gene

Paralogs for TOR1B Gene

(3) SIMAP similar genes for TOR1B Gene using alignment to 3 proteins:

  • TOR1B_HUMAN
  • H0Y7C8_HUMAN
  • Q9BR69_HUMAN

Pseudogenes.org Pseudogenes for TOR1B Gene

genes like me logo Genes that share paralogs with TOR1B: view

Variants for TOR1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOR1B Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs16936946 Benign: not provided 129,807,253(+) C/T
NM_014506.3(TOR1B):c.531C>T (p.Asp177=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON
rs10988518 -- p.Ala54Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TOR1B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TOR1B Gene

Variant ID Type Subtype PubMed ID
dgv1511e214 CNV gain 21293372
esv3621839 CNV loss 21293372
nsv1046477 CNV gain 25217958
nsv6729 CNV insertion 18451855

Variation tolerance for TOR1B Gene

Residual Variation Intolerance Score: 35.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TOR1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOR1B
Leiden Open Variation Database (LOVD)
TOR1B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOR1B Gene

Disorders for TOR1B Gene

MalaCards: The human disease database

(17) MalaCards diseases for TOR1B Gene - From: COP and GCD

Disorder Aliases PubMed IDs
acute endophthalmitis
focal dystonia
  • dystonia, focal, task-specific
lobomycosis
  • cutaneous blastomycosis
radial nerve lesion
  • lesion of radial nerve
dystonia 12
  • dyt12
- elite association - COSMIC cancer census association via MalaCards
Search TOR1B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TOR1B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TOR1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TOR1B Gene

Publications for TOR1B Gene

  1. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. (PMID: 10644435) Ozelius LJ … Breakefield XO (Genomics 1999) 2 3 22
  2. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. (PMID: 9288096) Ozelius LJ … Breakefield XO (Nature genetics 1997) 2 3 4
  3. Arresting a Torsin ATPase reshapes the endoplasmic reticulum. (PMID: 24275647) Rose AE … Schlieker C (The Journal of biological chemistry 2014) 3 4
  4. Regulation of Torsin ATPases by LAP1 and LULL1. (PMID: 23569223) Zhao C … Schlieker C (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4
  5. Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia. (PMID: 20669276) Sharma N … Ozelius LJ (Movement disorders : official journal of the Movement Disorder Society 2010) 3 40

Products for TOR1B Gene

Sources for TOR1B Gene