Details for: TOR1A
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
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Other Information
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
PubMed ID: 10640617
Title: Immunohistochemical localization and distribution of torsinA in normal human and rat brain.
PubMed ID: 10640617
PubMed ID: 15147511
Title: TorsinB--perinuclear location and association with torsinA.
PubMed ID: 15147511
PubMed ID: 14970196
Title: The early onset dystonia protein torsinA interacts with kinesin light chain 1.
PubMed ID: 14970196
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
PubMed ID: 15767459
Title: The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein.
PubMed ID: 15767459
PubMed ID: 16361107
Title: Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics.
PubMed ID: 16361107
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
PubMed ID: 18167355
Title: The dystonia-associated protein torsinA modulates synaptic vesicle recycling.
PubMed ID: 18167355
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
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
PubMed ID: 20169475
Title: The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro.
PubMed ID: 20169475
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
PubMed ID: 21102408
Title: CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process.
PubMed ID: 21102408
PubMed ID: 23569223
Title: Regulation of Torsin ATPases by LAP1 and LULL1.
PubMed ID: 23569223
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
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
PubMed ID: 18477710
Title: Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
PubMed ID: 18477710
PubMed ID: 19955557
Title: Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.
PubMed ID: 19955557
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
PubMed ID: 30244176
Title: Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.
PubMed ID: 30244176
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.