Details for: TOR1A

Gene ID: 1861

Symbol: TOR1A

Ensembl ID: ENSG00000136827

Description: torsin family 1 member A

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.23
    Marker Score: 3399
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.13
    Marker Score: 4453
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.09
    Marker Score: 2304
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71683.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47907
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30390
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.95
    Marker Score: 4115
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.95
    Marker Score: 3898
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.95
    Marker Score: 3676
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.95
    Marker Score: 6064
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2387
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.92
    Marker Score: 261
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 472
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 431
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2687
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.89
    Marker Score: 559.5
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5219
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 304
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.84
    Marker Score: 1244
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.84
    Marker Score: 9786
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.84
    Marker Score: 417
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.83
    Marker Score: 1108
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.83
    Marker Score: 4738
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.83
    Marker Score: 21170.5
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.83
    Marker Score: 831
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 314
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1260
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.75
    Marker Score: 549
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 570
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.72
    Marker Score: 381
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 0.72
    Marker Score: 7107
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.72
    Marker Score: 395
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.71
    Marker Score: 370
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.71
    Marker Score: 1932
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.71
    Marker Score: 448
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.69
    Marker Score: 735
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.69
    Marker Score: 7767.5
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.69
    Marker Score: 1432
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.68
    Marker Score: 330
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.68
    Marker Score: 610
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2849
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.67
    Marker Score: 634
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.67
    Marker Score: 166
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.67
    Marker Score: 457
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.67
    Marker Score: 445
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.67
    Marker Score: 1132
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.66
    Marker Score: 451
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.66
    Marker Score: 602
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.66
    Marker Score: 931
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.66
    Marker Score: 325
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.65
    Marker Score: 431
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.65
    Marker Score: 36265
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.64
    Marker Score: 153
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 0.64
    Marker Score: 144
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.63
    Marker Score: 1581
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.63
    Marker Score: 2644
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.63
    Marker Score: 127
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.63
    Marker Score: 21683
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.63
    Marker Score: 137
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.62
    Marker Score: 304
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.62
    Marker Score: 164
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.62
    Marker Score: 464
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.61
    Marker Score: 330
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.61
    Marker Score: 626
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.61
    Marker Score: 770.5
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.61
    Marker Score: 1191
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.61
    Marker Score: 408
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.61
    Marker Score: 160
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.6
    Marker Score: 1378
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.6
    Marker Score: 295
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.6
    Marker Score: 2316
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.6
    Marker Score: 602.5
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.6
    Marker Score: 1172
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.6
    Marker Score: 821
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.6
    Marker Score: 6030.5
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.59
    Marker Score: 666
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.59
    Marker Score: 136
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.59
    Marker Score: 614
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.59
    Marker Score: 400
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.58
    Marker Score: 164
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.58
    Marker Score: 148
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.58
    Marker Score: 426
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.58
    Marker Score: 334
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.58
    Marker Score: 680
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.58
    Marker Score: 1159
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.58
    Marker Score: 19730.5
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.58
    Marker Score: 242
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.58
    Marker Score: 145
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.58
    Marker Score: 384
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.58
    Marker Score: 520
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.58
    Marker Score: 943.5
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.58
    Marker Score: 1413.5
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.57
    Marker Score: 264
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.57
    Marker Score: 329
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.57
    Marker Score: 262
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.57
    Marker Score: 200
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.57
    Marker Score: 148
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.57
    Marker Score: 151
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.57
    Marker Score: 1548

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * Protein type: Protein kinase * Ensembl ID: ENSG00000136827 * Pathway/Ontology: Atp-dependent protein folding chaperone, Atp binding, Atp hydrolysis activity, Cargo recognition for clathrin-mediated endocytosis, Clathrin-mediated endocytosis, Cytoskeletal protein binding, Identical protein binding, Kinesin binding, Membrane trafficking, Misfolded protein binding, Nuclear envelope organization, Organelle organization, Protein binding, Protein deneddylation, Response to oxidative stress, Unfolded protein binding, Vesicle-mediated transport **Pathways and functions:** * **Protein folding chaperone:** TOR1A plays a crucial role in the folding and quality control of proteins. It helps to prevent misfolded or unfolded proteins from misfolding and to refold them correctly. * **Atp-dependent protein folding chaperone:** The protein is also involved in the regulation of protein folding by interacting with the ATP-dependent protein kinase (ATP-PK) complex. When ATP levels are low, TOR1A is released from the ATP-PK complex and becomes active. This allows the protein to interact with misfolded or unfolded proteins and to promote their proper folding. * **Cargo recognition for clathrin-mediated endocytosis:** TOR1A is a key regulator of clathrin-mediated endocytosis, a process by which cells take up extracellular vesicles. It is recruited to clathrin-coated vesicles and then undergoes a series of conformational changes that allow it to interact with the clathrin heavy chain. * **Other functions:** In addition to its role in endocytosis, TOR1A has been shown to be involved in various other cellular processes, including organelle organization, stress responses, and protein binding. **Clinical significance:** Mutations in the TOR1A gene have been linked to several human diseases, including cancer, neurodegenerative disorders, and metabolic diseases. These mutations can disrupt the proper folding and function of TOR1A, leading to cellular dysfunction and disease. Therefore, targeting TOR1A signaling is an emerging therapeutic strategy for these disorders.

Genular Protein ID: 2143528982

Symbol: TOR1A_HUMAN

Name: Torsin-1A

UniProtKB Accession Codes:

Database IDs:

Citations:

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: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 10871631

Title: Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations.

PubMed ID: 10871631

DOI: 10.1074/jbc.m910025199

PubMed ID: 10640617

Title: Immunohistochemical localization and distribution of torsinA in normal human and rat brain.

PubMed ID: 10640617

DOI: 10.1016/s0006-8993(99)02232-5

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: 14970196

Title: The early onset dystonia protein torsinA interacts with kinesin light chain 1.

PubMed ID: 14970196

DOI: 10.1074/jbc.m401332200

PubMed ID: 15505207

Title: Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant.

PubMed ID: 15505207

DOI: 10.1073/pnas.0308088101

PubMed ID: 15767459

Title: The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein.

PubMed ID: 15767459

DOI: 10.1083/jcb.200411026

PubMed ID: 16361107

Title: Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics.

PubMed ID: 16361107

DOI: 10.1016/j.nbd.2005.10.012

PubMed ID: 17037984

Title: Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum.

PubMed ID: 17037984

DOI: 10.1042/bj20061313

PubMed ID: 17428918

Title: Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.

PubMed ID: 17428918

DOI: 10.1073/pnas.0701185104

PubMed ID: 18167355

Title: The dystonia-associated protein torsinA modulates synaptic vesicle recycling.

PubMed ID: 18167355

DOI: 10.1074/jbc.m704097200

PubMed ID: 18827015

Title: TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.

PubMed ID: 18827015

DOI: 10.1242/jcs.029454

PubMed ID: 19535332

Title: Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis.

PubMed ID: 19535332

DOI: 10.1074/jbc.m109.004838

PubMed ID: 19339278

Title: LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation.

PubMed ID: 19339278

DOI: 10.1091/mbc.e09-01-0094

PubMed ID: 20169475

Title: The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro.

PubMed ID: 20169475

DOI: 10.1007/s12192-010-0173-2

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: 21102408

Title: CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process.

PubMed ID: 21102408

DOI: 10.1038/emboj.2010.285

PubMed ID: 23569223

Title: Regulation of Torsin ATPases by LAP1 and LULL1.

PubMed ID: 23569223

DOI: 10.1073/pnas.1300676110

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29053766

Title: TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

PubMed ID: 29053766

DOI: 10.1093/brain/awx230

PubMed ID: 27490483

Title: Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.

PubMed ID: 27490483

DOI: 10.7554/elife.17983

PubMed ID: 11523564

Title: Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

PubMed ID: 11523564

DOI: 10.1007/s100480100111

PubMed ID: 18477710

Title: Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).

PubMed ID: 18477710

DOI: 10.1136/jnnp.2008.148270

PubMed ID: 19955557

Title: Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.

PubMed ID: 19955557

DOI: 10.1136/jmg.2009.072082

PubMed ID: 24930953

Title: Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.

PubMed ID: 24930953

DOI: 10.1002/humu.22602

PubMed ID: 26940431

Title: New THAP1 mutation and role of putative modifier in TOR1A.

PubMed ID: 26940431

DOI: 10.1111/ane.12579

PubMed ID: 28516161

Title: Biallelic TOR1A variants in an infant with severe arthrogryposis.

PubMed ID: 28516161

DOI: 10.1212/nxg.0000000000000154

PubMed ID: 30244176

Title: Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.

PubMed ID: 30244176

DOI: 10.1016/j.ejmg.2018.09.011

Sequence Information:

  • Length: 332
  • Mass: 37809
  • Checksum: B69B28D0B4112080
  • Sequence:
  • MKLGRAVLGL LLLAPSVVQA VEPISLGLAL AGVLTGYIYP RLYCLFAECC GQKRSLSREA 
    LQKDLDDNLF GQHLAKKIIL NAVFGFINNP KPKKPLTLSL HGWTGTGKNF VSKIIAENIY 
    EGGLNSDYVH LFVATLHFPH ASNITLYKDQ LQLWIRGNVS ACARSIFIFD EMDKMHAGLI 
    DAIKPFLDYY DLVDGVSYQK AMFIFLSNAG AERITDVALD FWRSGKQRED IKLKDIEHAL 
    SVSVFNNKNS GFWHSSLIDR NLIDYFVPFL PLEYKHLKMC IRVEMQSRGY EIDEDIVSRV 
    AEEMTFFPKE ERVFSDKGCK TVFTKLDYYY DD

Genular Protein ID: 1282251968

Symbol: B3KPA1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 301
  • Mass: 34376
  • Checksum: 7536B805D09CB31A
  • Sequence:
  • MKLGRAVLGL LLLAPSVVQA VEPISLGLAL AGVLTGYIYP RLYCLFAECC GQKRSLSREA 
    LQKDLDDNLF GQHLAKKIIL NAVFGFINNP KPKKPLTLSL FVATLHFPHA SNITLYKDQL 
    QLWIRGNVSA CARSIFIFDE MDKMHAGLID AIKPFLDYYD LVDGVSYQKA MFIFLSNAGA 
    ERITDVALDF WRSGKQREDI KLKDIEHALS VSVFNNKNSG FWHSSLIDRN LIDYFVPFLP 
    LEYKHLKMCI RVEMQSRGYE IDEDIVSRVA EEMTFFPKEV RVFSDKGCKT VFTKLDYYYD 
    D

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. For the full schema, download it here.