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Aliases for TOR1B Gene

Aliases for TOR1B Gene

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

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 Torsion Dystonia and Acute Endophthalmitis. GO annotations related to this gene include ATPase activity. An important paralog of this gene is TOR2A.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOR1B Gene

Genomics for TOR1B Gene

Regulatory Elements for TOR1B Gene

Enhancers for TOR1B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TOR1B on UCSC Golden Path with GeneCards custom track

Promoters for TOR1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TOR1B on UCSC Golden Path with GeneCards custom track

Genomic Location for TOR1B Gene

Chromosome:
9
Start:
129,803,148 bp from pter
End:
129,811,284 bp from pter
Size:
8,137 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

Proteomics data for TOR1B Gene at MOPED

Post-translational modifications for TOR1B Gene

Other Protein References for TOR1B Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for TOR1B

No data available for DME Specific Peptides for TOR1B Gene

Domains & Families for TOR1B Gene

Protein Domains for TOR1B Gene

Suggested Antigen Peptide Sequences for TOR1B Gene

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

No data available for Gene Families for TOR1B Gene

Function for TOR1B Gene

Molecular function for TOR1B Gene

GENATLAS Biochemistry:
torsin 1B ATP binding protein,homolog to TOR1A,and tightly linked to it in opposite orientation
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
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.

Enzyme Numbers (IUBMB) for TOR1B Gene

Gene Ontology (GO) - Molecular Function for TOR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15147511
genes like me logo Genes that share ontologies with TOR1B: view

Animal Model Products

No data available for Phenotypes , 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
Jensen Localization Image for TOR1B Gene COMPARTMENTS Subcellular localization image for TOR1B gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
nucleus 5
cytosol 2
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TOR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with TOR1B: view

Pathways & Interactions for TOR1B Gene

SuperPathways for TOR1B Gene

No Data Available

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:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with TOR1B: view

No data available for Pathways by source and SIGNOR curated interactions for TOR1B Gene

Drugs & Compounds for TOR1B Gene

No Compound Related Data Available

Transcripts for TOR1B Gene

Unigene Clusters for TOR1B Gene

Torsin family 1, member B (torsin B):
Representative Sequences:

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
ECgene alternative splicing isoforms for
TOR1B

Expression for TOR1B Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for TOR1B Gene



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.
genes like me logo Genes that share expression patterns with TOR1B: view

Protein tissue co-expression partners for TOR1B Gene

Primer Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia TOR1B 35
  • 88.77 (n)
  • 94.07 (a)
TOR1B 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TOR1B 35
  • 89.63 (n)
  • 92.06 (a)
TOR1B 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tor1b 35
  • 86.75 (n)
  • 91.35 (a)
Tor1b 16
Tor1b 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TOR1B 35
  • 99.6 (n)
  • 99.7 (a)
TOR1B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tor1b 35
  • 86.75 (n)
  • 92.63 (a)
oppossum
(Monodelphis domestica)
Mammalia TOR1B 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOR1B 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOR1B 35
  • 72.22 (n)
  • 73.4 (a)
TOR1B 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1410 35
tor1a 35
  • 65.59 (n)
  • 64.95 (a)
zebrafish
(Danio rerio)
Actinopterygii tor1 35
  • 64.09 (n)
  • 60.13 (a)
wufj81e01 35
AL954146.4 36
  • 41 (a)
ManyToMany
tor1 36
  • 55 (a)
ManyToMany
tor1l1 36
  • 46 (a)
ManyToMany
tor1l3 36
  • 44 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta torp4a 37
  • 35 (a)
Torsin 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tor-1 37
  • 39 (a)
tor-2 37
  • 41 (a)
tor-2 35
  • 50.65 (n)
  • 42.4 (a)
ooc-5 36
  • 35 (a)
ManyToMany
tor-1 36
  • 36 (a)
ManyToMany
tor-2 36
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7178 36
  • 37 (a)
OneToMany
Species with no ortholog for TOR1B:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TOR1B Gene

Paralogs for TOR1B Gene

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

Pseudogenes.org Pseudogenes for TOR1B Gene

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

Variants for TOR1B Gene

Sequence variations from dbSNP and Humsavar for TOR1B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10988518 - 129,803,372(+) GCTTC(A/G)CCGAG nc-transcript-variant, reference, missense
rs894422 -- 129,803,333(+) CCATC(A/C)CCGGC nc-transcript-variant, reference, missense
rs1043178 -- 129,807,274(+) CACCC(A/C/T)GGGAT nc-transcript-variant, reference, synonymous-codon
rs1043181 -- 129,810,442(+) ACAGC(C/G)CTGGC utr-variant-3-prime
rs1043182 -- 129,810,694(+) GGAAG(A/G)ATGAC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv893925 CNV Gain 21882294
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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TOR1B Gene

Disorders for TOR1B Gene

MalaCards: The human disease database

(5) MalaCards diseases for TOR1B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
torsion dystonia
  • dystonia musculorum deformans
acute endophthalmitis
kleine-levin syndrome
  • kleine levin syndrome
purulent endophthalmitis
recurrent hypersomnia
  • primary recurrent hypersomnia
- elite association - COSMIC cancer census association via MalaCards
Search TOR1B in MalaCards View complete list of genes associated with diseases

Relevant External Links for TOR1B

Genetic Association Database (GAD)
TOR1B
Human Genome Epidemiology (HuGE) Navigator
TOR1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOR1B
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 early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. (PMID: 9288096) Ozelius L.J. … Breakefield X.O. (Nat. Genet. 1997) 2 3 4 67
  2. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. (PMID: 10644435) Ozelius L.J. … Breakefield X.O. (Genomics 1999) 2 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Arresting a Torsin ATPase reshapes the endoplasmic reticulum. (PMID: 24275647) Rose A.E. … Schlieker C. (J. Biol. Chem. 2014) 3

Products for TOR1B Gene

Sources for TOR1B Gene

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