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Aliases for TOR1B Gene

Aliases for TOR1B Gene

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

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 Purulent Endophthalmitis. Among its related pathways are Clathrin-mediated endocytosis and Vesicle-mediated transport. GO annotations related to this gene include ATPase activity. An important paralog of this gene is TOR1A.

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.

Additional gene information for TOR1B Gene

No data available for CIViC 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

Enhancers for TOR1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H129476 2.1 FANTOM5 Ensembl ENCODE dbSUPER 30.3 -313.8 -313828 26 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A NFYC PPARGC1A MEF2D NUP188 GLE1 TOR1B PKN3 ENSG00000234055 LINC00963 SPOUT1 C9orf106 ENSG00000268707 IER5L
GH09H129776 2 FANTOM5 Ensembl ENCODE dbSUPER 20.5 -25.7 -25673 2 HDGF PKNOX1 ARNT FEZF1 ZNF2 ZNF766 ZNF143 FOS DEK REST TOR1B C9orf78 TOR1A PRRX2-AS1 PRRX2 ASB6 ENSG00000234789 USP20 C9orf50 NTMT1
GH09H129773 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.8 -29.4 -29354 1 ELF3 FOXA2 ARID4B BRCA1 RARA RFX5 ZNF366 ZSCAN5C SMARCC2 RCOR1 TOR1B USP20 PRRX2-AS1 ASB6 ENSG00000234789 C9orf78 FNBP1 PTGES GC09M129739
GH09H129882 1.8 FANTOM5 ENCODE dbSUPER 17.4 +87.0 87021 14 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 YBX1 ZNF2 YY1 USP20 C9orf78 FNBP1 TOR1A TOR1B FUBP3 EXOSC2 ABL1 ASB6 ENSG00000230684
GH09H129574 1.3 Ensembl ENCODE dbSUPER 19.8 -227.0 -226969 3 BCOR ZNF777 SUZ12 JUN ZSCAN4 ZNF175 MAX ZNF266 ZMYM3 CEBPG NUP188 TOR1B SPOUT1 SET DOLK NTMT1 C9orf50 PKN3 LOC105376292
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000242088 152 1401 PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207 SP3 SP5

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

Post-translational modifications for TOR1B Gene

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

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

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

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

Phenotypes From GWAS Catalog 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:0016787 hydrolase activity IEA --
GO:0016887 ATPase activity IDA 20015956
genes like me logo Genes that share ontologies with TOR1B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TOR1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
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 IDA,IEA 15147511
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 15147511
GO:0005788 endoplasmic reticulum lumen 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:0051085 chaperone mediated protein folding requiring cofactor IEA --
GO:0051260 protein homooligomerization IDA,IEA 20015956
GO:0071763 nuclear membrane organization IEA --
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

Unigene Clusters for TOR1B Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TOR1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TOR1B Gene



Protein tissue co-expression partners for TOR1B Gene

NURSA nuclear receptor signaling pathways regulating expression of TOR1B Gene:

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(4.5)
  • Kidney(4.2)
  • Liver(4.2)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with TOR1B: view

Primer Products

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 33 34
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia TOR1B 33 34
  • 89.63 (n)
cow
(Bos Taurus)
Mammalia TOR1B 33 34
  • 88.77 (n)
mouse
(Mus musculus)
Mammalia Tor1b 33 16 34
  • 86.75 (n)
rat
(Rattus norvegicus)
Mammalia Tor1b 33
  • 86.75 (n)
oppossum
(Monodelphis domestica)
Mammalia TOR1B 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOR1B 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOR1B 33 34
  • 72.22 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tor1a 33
  • 65.59 (n)
Str.1410 33
zebrafish
(Danio rerio)
Actinopterygii tor1 33 34
  • 64.09 (n)
tor1l1 34
  • 46 (a)
ManyToMany
tor1l3 34
  • 44 (a)
ManyToMany
AL954146.4 34
  • 41 (a)
ManyToMany
wufj81e01 33
fruit fly
(Drosophila melanogaster)
Insecta torp4a 35
  • 35 (a)
Torsin 34
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tor-2 35 33 34
  • 50.65 (n)
tor-1 35 34
  • 39 (a)
ooc-5 34
  • 35 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7178 34
  • 37 (a)
OneToMany
Species where no ortholog for TOR1B was found in the sources mined by GeneCards:
  • 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
rs1000263092 -- 129,803,601(+) GCGGT(G/T)CCTTC intron-variant
rs1000868352 -- 129,805,031(+) TACTC(G/T)GGAGG intron-variant
rs1001037507 -- 129,804,478(+) AGTCC(A/G)GGTAG intron-variant, nc-transcript-variant
rs1001151534 -- 129,805,245(+) AGGTC(A/G)GGAGT intron-variant
rs1001345243 -- 129,811,048(+) AACAA(C/G)GTGCA nc-transcript-variant, utr-variant-3-prime

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)

Relevant External Links for TOR1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOR1B

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

Disorders for TOR1B Gene

MalaCards: The human disease database

(4) MalaCards diseases for TOR1B Gene - From: DISEASES

Disorder Aliases PubMed IDs
acute endophthalmitis
purulent endophthalmitis
kleine-levin hibernation syndrome
  • kleine-levin syndrome
sleep disorder
  • non-organic sleep disorder
- 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 TOR1A (DYT1) gene family and its role in early onset torsion dystonia. (PMID: 10644435) Ozelius LJ … Breakefield XO (Genomics 1999) 2 3 22 60
  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 60
  3. Arresting a Torsin ATPase reshapes the endoplasmic reticulum. (PMID: 24275647) Rose AE … Schlieker C (The Journal of biological chemistry 2014) 3 4 60
  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 60
  5. Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA. (PMID: 20015956) Jungwirth M … Goodchild R (Human molecular genetics 2010) 3 4 60

Products for TOR1B Gene

Sources for TOR1B Gene

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