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Aliases for TOR1B Gene

Aliases for TOR1B Gene

  • Torsin Family 1, Member B (Torsin B) 2 3
  • DQ1 3 4 6
  • Torsin Family 1 Member B 3 4
  • Torsin ATPase-1B 3 4
  • EC 3.6.4.- 4
  • Torsin-1B 3

External Ids for TOR1B Gene

Previous GeneCards Identifiers for TOR1B Gene

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

Summaries for TOR1B Gene

GeneCards Summary for TOR1B Gene

TOR1B (Torsin Family 1, Member B (Torsin B)) is a Protein Coding gene. Diseases associated with TOR1B include focal dystonia and torsion dystonia. GO annotations related to this gene include unfolded protein binding and nucleoside-triphosphatase 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 Entrez Gene Summary , 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TOR1B Gene

Start:
129,803,149 bp from pter
End:
129,811,284 bp from pter
Size:
8,136 bases
Orientation:
Plus strand

Genomic View for TOR1B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TOR1B Gene

Domains 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 :
  • O14657
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
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IDA 20015956
genes like me logo Genes that share ontologies with TOR1B: view

Animal Model Products

CRISPR Products

miRNA for TOR1B Gene

miRTarBase miRNAs that target TOR1B

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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
cytoskeleton 2
cytosol 2
extracellular 2
nucleus 2
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TOR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IDA 15147511
GO:0005737 cytoplasm --
GO:0005783 endoplasmic reticulum IDA 15147511
GO:0005788 endoplasmic reticulum lumen IDA 20015956
GO:0016020 membrane --
genes like me logo Genes that share ontologies with TOR1B: view

Pathways 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:0006200 obsolete ATP catabolic process --
GO:0006986 response to unfolded protein TAS 10644435
GO:0007029 endoplasmic reticulum organization IDA 24275647
GO:0051085 chaperone mediated protein folding requiring cofactor IEA --
GO:0051260 protein homooligomerization IDA 20015956
genes like me logo Genes that share ontologies with TOR1B: view

No data available for Pathways by source for TOR1B Gene

Transcripts for TOR1B Gene

mRNA/cDNA for TOR1B Gene

Unigene Clusters for TOR1B Gene

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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TOR1B

Primer Products

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with TOR1B: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia TOR1B 35
  • 99.6 (n)
  • 99.7 (a)
TOR1B 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia TOR1B 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOR1B 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tor1b 35
  • 86.75 (n)
  • 92.63 (a)
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 AL954146.4 36
  • 41 (a)
ManyToMany
tor1 35
  • 64.09 (n)
  • 60.13 (a)
tor1 36
  • 55 (a)
ManyToMany
tor1l1 36
  • 46 (a)
ManyToMany
tor1l3 36
  • 44 (a)
ManyToMany
wufj81e01 35
fruit fly
(Drosophila melanogaster)
Insecta Torsin 36
  • 33 (a)
OneToMany
torp4a 37
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea ooc-5 36
  • 35 (a)
ManyToMany
tor-1 36
  • 36 (a)
ManyToMany
tor-2 35
  • 50.65 (n)
  • 42.4 (a)
tor-2 36
  • 29 (a)
ManyToMany
tor-2 37
  • 41 (a)
tor-1 37
  • 39 (a)
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

Selected 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 MAF
rs12634 -- 129,811,257(+) AGTGA(G/T)GCAAT utr-variant-3-prime
rs894422 -- 129,803,333(+) CCATC(A/C)CCGGC reference, missense
rs1043178 -- 129,807,274(+) CACCC(C/T)GGGAT 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

Relevant External Links for TOR1B Gene

HapMap Linkage Disequilibrium report
TOR1B

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

Disorders for TOR1B Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for TOR1B Gene including...

Search for TOR1B Gene in MalaCards »

Relevant External Links for TOR1B

Genetic Association Database (GAD)
TOR1B
Human Genome Epidemiology (HuGE) Navigator
TOR1B
genes like me logo Genes that share disorders with TOR1B: view

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

Publications for TOR1B Gene

  1. 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
  2. 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
  3. Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. (PMID: 17130424) Kamm C. … Gasser T. (Neurology 2006) 3 48
  4. TorsinB--perinuclear location and association with torsinA. (PMID: 15147511) Hewett J.W. … Ramesh V. (J. Neurochem. 2004) 3 4
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4

Products for TOR1B Gene

Sources for TOR1B Gene

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