Details for: TOR1B

Gene ID: 27348

Symbol: TOR1B

Ensembl ID: ENSG00000136816

Description: torsin family 1 member B

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 99.5209
    Cell Significance Index: -15.4800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 61.4840
    Cell Significance Index: -15.6000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 35.5204
    Cell Significance Index: -16.7700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 35.0517
    Cell Significance Index: -14.2400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 24.9768
    Cell Significance Index: -16.7600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 14.9988
    Cell Significance Index: -14.3200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 12.8796
    Cell Significance Index: -15.8800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.5135
    Cell Significance Index: -14.7700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.0851
    Cell Significance Index: -16.1200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.1776
    Cell Significance Index: -9.7600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2527
    Cell Significance Index: 203.7400
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.1199
    Cell Significance Index: 18.4600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7964
    Cell Significance Index: 86.6200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.7252
    Cell Significance Index: 15.8800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6771
    Cell Significance Index: 611.4100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.6412
    Cell Significance Index: 74.7300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5012
    Cell Significance Index: 22.7200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4570
    Cell Significance Index: 91.6700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4263
    Cell Significance Index: 29.4800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3766
    Cell Significance Index: 8.1600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3659
    Cell Significance Index: 131.2600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3485
    Cell Significance Index: 10.0400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2749
    Cell Significance Index: 14.2800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2560
    Cell Significance Index: 50.8100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2444
    Cell Significance Index: 15.0200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2332
    Cell Significance Index: 5.8300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.2189
    Cell Significance Index: 3.2800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1946
    Cell Significance Index: 35.0800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1848
    Cell Significance Index: 4.9400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1805
    Cell Significance Index: 34.3500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1616
    Cell Significance Index: 15.9900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1500
    Cell Significance Index: 103.7500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1331
    Cell Significance Index: 16.3600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0949
    Cell Significance Index: 51.8100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0703
    Cell Significance Index: 3.2800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0603
    Cell Significance Index: 26.6500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0593
    Cell Significance Index: 3.3300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0540
    Cell Significance Index: 1.5100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0535
    Cell Significance Index: 7.3500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0513
    Cell Significance Index: 1.2300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0455
    Cell Significance Index: 2.3700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0257
    Cell Significance Index: 0.4400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0247
    Cell Significance Index: 0.5300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0246
    Cell Significance Index: 1.5900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0184
    Cell Significance Index: 0.5000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0034
    Cell Significance Index: 0.4300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0003
    Cell Significance Index: 0.5900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0008
    Cell Significance Index: -0.1400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0058
    Cell Significance Index: -3.6700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0064
    Cell Significance Index: -9.8800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0065
    Cell Significance Index: -11.9000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0112
    Cell Significance Index: -15.2800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0135
    Cell Significance Index: -0.2500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0136
    Cell Significance Index: -0.6000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0155
    Cell Significance Index: -11.3300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0166
    Cell Significance Index: -12.5500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0186
    Cell Significance Index: -2.1900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0193
    Cell Significance Index: -14.3200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0230
    Cell Significance Index: -10.4500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0275
    Cell Significance Index: -2.8100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0284
    Cell Significance Index: -17.7100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0288
    Cell Significance Index: -16.2300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0295
    Cell Significance Index: -1.0400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0349
    Cell Significance Index: -5.0700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0444
    Cell Significance Index: -3.4100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0445
    Cell Significance Index: -12.8100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0460
    Cell Significance Index: -1.3500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0525
    Cell Significance Index: -3.5300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0533
    Cell Significance Index: -6.8900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0602
    Cell Significance Index: -2.2800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0604
    Cell Significance Index: -2.8400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0636
    Cell Significance Index: -4.5000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0782
    Cell Significance Index: -8.9600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0839
    Cell Significance Index: -1.7400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0853
    Cell Significance Index: -17.9600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0935
    Cell Significance Index: -5.8900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1040
    Cell Significance Index: -1.7400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1202
    Cell Significance Index: -1.6400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1225
    Cell Significance Index: -9.1300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1276
    Cell Significance Index: -2.6700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1504
    Cell Significance Index: -15.6600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1674
    Cell Significance Index: -5.3600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1758
    Cell Significance Index: -4.7100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1948
    Cell Significance Index: -15.4300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2029
    Cell Significance Index: -12.4400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2054
    Cell Significance Index: -4.3600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2324
    Cell Significance Index: -12.2000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2383
    Cell Significance Index: -4.6500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2484
    Cell Significance Index: -6.6500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2540
    Cell Significance Index: -6.6800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2725
    Cell Significance Index: -8.6800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2754
    Cell Significance Index: -7.0800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2761
    Cell Significance Index: -9.0400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2802
    Cell Significance Index: -2.5800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2850
    Cell Significance Index: -5.6400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2895
    Cell Significance Index: -8.3000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2947
    Cell Significance Index: -10.2400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2968
    Cell Significance Index: -8.4700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2999
    Cell Significance Index: -6.0200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3217
    Cell Significance Index: -6.9500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** TOR1B is a 103-kDa protein that belongs to the torsin family, which is characterized by its unique structure and function. It is primarily localized to the ER lumen and has been shown to interact with various proteins, including kinesin, clathrin, and other membrane trafficking machinery components. The protein's structure consists of a globular head domain and a long, coiled-coil tail, which is thought to play a crucial role in its interaction with other proteins. **Pathways and Functions:** TOR1B is involved in various cellular pathways, including: 1. **Clathrin-mediated endocytosis**: TOR1B interacts with clathrin and other endocytic machinery components to regulate the formation and internalization of clathrin-coated vesicles. 2. **Vesicle-mediated transport**: TOR1B is involved in the formation and movement of vesicles, which are essential for protein transport and localization within the cell. 3. **Protein refolding**: TOR1B has been shown to interact with unfolded proteins and facilitate their refolding, which is critical for maintaining protein homeostasis. 4. **ER organization**: TOR1B plays a role in maintaining the structure and organization of the ER, which is essential for protein synthesis, folding, and transport. **Clinical Significance:** TOR1B has been implicated in various diseases, including: 1. **Neurodegenerative disorders**: Mutations in the Torsin-1 gene, which encodes TOR1B, have been associated with neurodegenerative disorders, such as spinocerebellar ataxia type 1 (SCA1). 2. **Gastrointestinal disorders**: Alterations in TOR1B expression have been linked to gastrointestinal disorders, such as colon cancer and inflammatory bowel disease. 3. **Cancer**: TOR1B has been shown to be overexpressed in various types of cancer, including breast, lung, and colon cancer. In conclusion, TOR1B is a multifunctional protein that plays a critical role in regulating membrane trafficking, endoplasmic reticulum organization, and protein localization within the nucleus. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the functions and clinical significance of TOR1B.

Genular Protein ID: 3645233324

Symbol: TOR1B_HUMAN

Name: Torsin-1B

UniProtKB Accession Codes:

O14657

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEBI 6 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 EC 1 EMBL 4 Ensembl 1 ExpressionAtlas 1 GO 14 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9288096

Title: The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

PubMed ID: 9288096

DOI: 10.1038/ng0997-40

PubMed ID: 15147511

Title: TorsinB--perinuclear location and association with torsinA.

PubMed ID: 15147511

DOI: 10.1111/j.1471-4159.2004.02404.x

PubMed ID: 20015956

Title: Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA.

PubMed ID: 20015956

DOI: 10.1093/hmg/ddp557

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23569223

Title: Regulation of Torsin ATPases by LAP1 and LULL1.

PubMed ID: 23569223

DOI: 10.1073/pnas.1300676110

PubMed ID: 24275647

Title: Arresting a Torsin ATPase reshapes the endoplasmic reticulum.

PubMed ID: 24275647

DOI: 10.1074/jbc.m113.515791

Sequence Information:

  • Length: 336
  • Mass: 37979
  • Checksum: E729360E6468A3FC
  • Sequence:
    • MLRAGWLRGA AALALLLAAR VVAAFEPITV GLAIGAASAI TGYLSYNDIY CRFAECCREE 
RPLNASALKL DLEEKLFGQH LATEVIFKAL TGFRNNKNPK KPLTLSLHGW AGTGKNFVSQ 
IVAENLHPKG LKSNFVHLFV STLHFPHEQK IKLYQDQLQK WIRGNVSACA NSVFIFDEMD 
KLHPGIIDAI KPFLDYYEQV DGVSYRKAIF IFLSNAGGDL ITKTALDFWR AGRKREDIQL 
KDLEPVLSVG VFNNKHSGLW HSGLIDKNLI DYFIPFLPLE YRHVKMCVRA EMRARGSAID 
EDIVTRVAEE MTFFPRDEKI YSDKGCKTVQ SRLDFH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.