Details for: TOR1A

Gene ID: 1861

Symbol: TOR1A

Ensembl ID: ENSG00000136827

Description: torsin family 1 member A

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: 106.2071
    Cell Significance Index: -16.5200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 58.8819
    Cell Significance Index: -14.9400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 42.4890
    Cell Significance Index: -20.0600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 38.6675
    Cell Significance Index: -19.8900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.2479
    Cell Significance Index: -18.8000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.0151
    Cell Significance Index: -19.7900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.7469
    Cell Significance Index: -14.5800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.3227
    Cell Significance Index: -11.5800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.9883
    Cell Significance Index: 59.3300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9292
    Cell Significance Index: 91.9200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9103
    Cell Significance Index: 99.0200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.7857
    Cell Significance Index: 91.5600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7333
    Cell Significance Index: 119.2700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.7006
    Cell Significance Index: 20.5800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.5805
    Cell Significance Index: 7.9200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5559
    Cell Significance Index: 501.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5084
    Cell Significance Index: 26.4100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4874
    Cell Significance Index: 33.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4096
    Cell Significance Index: 73.8400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4063
    Cell Significance Index: 11.0600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3995
    Cell Significance Index: 18.7800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3666
    Cell Significance Index: 50.3400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3517
    Cell Significance Index: 16.4000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3435
    Cell Significance Index: 187.5800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3398
    Cell Significance Index: 41.7800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3297
    Cell Significance Index: 21.2700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2676
    Cell Significance Index: 118.3200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2502
    Cell Significance Index: 18.6500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2407
    Cell Significance Index: 8.3700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2242
    Cell Significance Index: 44.9800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2210
    Cell Significance Index: 28.3300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2176
    Cell Significance Index: 5.8100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2079
    Cell Significance Index: 5.5700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1990
    Cell Significance Index: 23.4700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1951
    Cell Significance Index: 5.6200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1948
    Cell Significance Index: 4.2200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1800
    Cell Significance Index: 4.5000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1797
    Cell Significance Index: 34.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1765
    Cell Significance Index: 22.8100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1677
    Cell Significance Index: 11.8600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1510
    Cell Significance Index: 3.1600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1324
    Cell Significance Index: 26.2700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.1201
    Cell Significance Index: 2.2200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0885
    Cell Significance Index: 31.7500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0774
    Cell Significance Index: 2.0400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0329
    Cell Significance Index: 1.4900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0281
    Cell Significance Index: 0.7500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0194
    Cell Significance Index: 0.2200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0031
    Cell Significance Index: -2.3300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0051
    Cell Significance Index: -9.6900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0111
    Cell Significance Index: -0.1900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0115
    Cell Significance Index: -8.4700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0117
    Cell Significance Index: -0.7400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0119
    Cell Significance Index: -1.2200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0129
    Cell Significance Index: -23.8800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0151
    Cell Significance Index: -23.2200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0166
    Cell Significance Index: -22.5500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0176
    Cell Significance Index: -3.0000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0199
    Cell Significance Index: -0.5700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0204
    Cell Significance Index: -0.5200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0212
    Cell Significance Index: -0.6800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0226
    Cell Significance Index: -14.3500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0229
    Cell Significance Index: -16.9700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0313
    Cell Significance Index: -17.6400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0351
    Cell Significance Index: -21.8900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0379
    Cell Significance Index: -17.1800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0570
    Cell Significance Index: -16.4000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0625
    Cell Significance Index: -0.5100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0676
    Cell Significance Index: -1.4400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0695
    Cell Significance Index: -3.6500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1002
    Cell Significance Index: -2.8000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1040
    Cell Significance Index: -21.9000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1072
    Cell Significance Index: -15.5900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1148
    Cell Significance Index: -13.1600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1633
    Cell Significance Index: -1.6900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1638
    Cell Significance Index: -10.0700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1679
    Cell Significance Index: -11.2900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1895
    Cell Significance Index: -19.7300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1956
    Cell Significance Index: -2.9700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1962
    Cell Significance Index: -11.0100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2011
    Cell Significance Index: -15.4300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2019
    Cell Significance Index: -12.3800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2299
    Cell Significance Index: -18.2100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.2823
    Cell Significance Index: -4.2300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.2953
    Cell Significance Index: -3.2100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3133
    Cell Significance Index: -2.8900
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.3203
    Cell Significance Index: -4.4900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3370
    Cell Significance Index: -7.3800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.3389
    Cell Significance Index: -7.8300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.3395
    Cell Significance Index: -6.0000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3419
    Cell Significance Index: -10.0700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3514
    Cell Significance Index: -15.5500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3577
    Cell Significance Index: -5.3900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3806
    Cell Significance Index: -10.8600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.3851
    Cell Significance Index: -6.1100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.4075
    Cell Significance Index: -20.5900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4132
    Cell Significance Index: -15.6500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4431
    Cell Significance Index: -11.3900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4506
    Cell Significance Index: -16.5400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4537
    Cell Significance Index: -15.9000

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** TOR1A is a 74-kDa protein that is characterized by its ability to bind to ATP and hydrolyze it, which is essential for its chaperone activity. The protein is known to interact with various other proteins, including kinases, phosphatases, and other chaperones, to regulate protein folding and endocytosis. Its expression is tightly regulated, and its dysregulation has been implicated in various diseases, including cancer and neurological disorders. TOR1A is also known to be involved in the regulation of synaptic transmission, particularly in the context of dopamine uptake. **Pathways and Functions** TOR1A is involved in various cellular pathways, including: 1. **ATP-dependent protein folding**: TOR1A acts as a chaperone to fold proteins in an ATP-dependent manner, which is essential for protein stability and function. 2. **Clathrin-mediated endocytosis**: TOR1A recognizes cargo for clathrin-mediated endocytosis, which is a process by which cells internalize proteins and lipids from the plasma membrane. 3. **Cargo recognition**: TOR1A recognizes specific cargo proteins and regulates their internalization and degradation. 4. **Protein localization to nucleus**: TOR1A regulates the localization of proteins to the nucleus, which is essential for various nuclear processes, including transcription and DNA repair. 5. **Regulation of synaptic transmission**: TOR1A is involved in the regulation of synaptic transmission, particularly in the context of dopamine uptake. **Clinical Significance** TOR1A has been implicated in various diseases, including: 1. **Cancer**: Dysregulation of TOR1A has been observed in various types of cancer, including breast, lung, and colon cancer. 2. **Neurological disorders**: TOR1A has been implicated in various neurological disorders, including Parkinson's disease, Alzheimer's disease, and schizophrenia. 3. **Immune disorders**: TOR1A has been implicated in various immune disorders, including autoimmune diseases and immunodeficiency disorders. In conclusion, TOR1A is a multifunctional protein that plays crucial roles in various cellular processes, including protein folding, endocytosis, and regulation of synaptic transmission. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the functions and pathways of TOR1A.

Genular Protein ID: 2143528982

Symbol: TOR1A_HUMAN

Name: Torsin-1A

UniProtKB Accession Codes:

O14656 B2RB58 Q53Y64 Q96CA0

Database IDs:

ABCD 1 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 6 EMDB 1 Ensembl 1 ExpressionAtlas 1 GO 40 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 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 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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:

B3KPA1

Database IDs:

ARBA 15 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 5 DNASU 1 DisGeNET 1 EMBL 2 GO 10 Gene3D 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 RefSeq 1 Rhea 1 SAM 1 SUPFAM 1

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. 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.