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Protein

Torsin-1A

Gene

TOR1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function with TOR1B in non-neural tissues.8 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi102 – 109ATP8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ATPase activity Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • cytoskeletal protein binding Source: UniProtKB
  • kinesin binding Source: UniProtKB
  • misfolded protein binding Source: Ensembl
  • unfolded protein binding Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChaperone, Hydrolase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Torsin-1A
Alternative name(s):
Dystonia 1 protein
Torsin ATPase-1A (EC:3.6.4.-)
Torsin family 1 member A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TOR1A
Synonyms:DQ2, DYT1, TA, TORA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000136827.11

Human Gene Nomenclature Database

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HGNCi
HGNC:3098 TOR1A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605204 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O14656

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Endoplasmic reticulum, Membrane, Nucleus, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dystonia 1, torsion, autosomal dominant (DYT1)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA primary torsion dystonia, and the most common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 1 is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized dystonia, even within families.
See also OMIM:128100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070932205F → I in DYT1; produces intracellular misfolded protein aggregates. 1 PublicationCorresponds to variant dbSNP:rs267607134EnsemblClinVar.1
Natural variantiVAR_070933288R → Q in DYT1; produces an enlarged perinuclear space. 1 PublicationCorresponds to variant dbSNP:rs727502811EnsemblClinVar.1
Natural variantiVAR_010789303Missing in DYT1; dominant negative; loss of interaction with TOR1AIP1 and TOR1AIP2 with loss of ATPase activity induction; enriched in the nuclear envelope; impairs secretory pathway; produces intracellular misfolded protein aggregates; produces an enlarged perinuclear space. 13 PublicationsCorresponds to variant dbSNP:rs80358233Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi18V → F: Inhibits sequence signal cleavage. 1 Publication1
Mutagenesisi20A → F: Inhibits sequence signal cleavage. 1 Publication1
Mutagenesisi33V → N: N-glycosylated. 1 Publication1
Mutagenesisi108K → A: Loss of ATP-binding. No effect on interaction with KLHL14. Increases interaction with TOR1AIP1 and TOR1AIP2. Abolishes interaction with SLC6A3. 3 Publications1
Mutagenesisi143N → Q: Reduces N-glycosylation. 1 Publication1
Mutagenesisi158N → Q: Reduces N-glycosylation. 1 Publication1
Mutagenesisi171E → Q: Loss of ATP hydrolysis. Loss of interaction with KLHL14. Localizes in the nuclear envelope. No effect on interaction with TOR1AIP1. 5 Publications1

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

DisGeNET

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DisGeNETi
1861

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
TOR1A

MalaCards human disease database

More...
MalaCardsi
TOR1A
MIMi128100 phenotype

Open Targets

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OpenTargetsi
ENSG00000136827

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
256 Early-onset generalized limb-onset dystonia
36899 Myoclonus-dystonia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27556

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TOR1A

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 201 PublicationAdd BLAST20
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000550621 – 332Torsin-1AAdd BLAST312

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi143N-linked (GlcNAc...) (high mannose) asparagine1 Publication1
Glycosylationi158N-linked (GlcNAc...) (high mannose) asparagine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.3 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O14656

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O14656

MaxQB - The MaxQuant DataBase

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MaxQBi
O14656

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O14656

PeptideAtlas

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PeptideAtlasi
O14656

PRoteomics IDEntifications database

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PRIDEi
O14656

ProteomicsDB human proteome resource

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ProteomicsDBi
48152
48153 [O14656-2]

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1821

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O14656

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O14656

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Highest levels in kidney and liver. In the brain, high levels found in the dopaminergic neurons of the substantia nigra pars compacta, as well as in the neocortex, hippocampus and cerebellum. Also highly expressed in the spinal cord.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000136827 Expressed in 225 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

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CleanExi
HS_TOR1A

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O14656 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB012473
HPA051195

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homohexamer. Interacts with TOR1B; the interaction may be specific of neural tissues. Interacts (ATP-bound) with TOR1AIP1 and TOR1AIP2; the interactions induce ATPase activity. Interacts with KLHL14; preferentially when ATP-free. Interacts with KLC1 (via TPR repeats); the interaction associates TOR1A with the kinesin oligomeric complex. Interacts with COPS4; the interaction associates TOR1A with the CSN complex. Interacts with SNAPIN; the interaction is direct and associates SNAPIN with the CSN complex. Interacts with STON2. Interacts (ATP-bound) with SYNE3 (via KASH domain); the interaction is required for SYNE3 nuclear envelope localization. Interacts with VIM; the interaction associates TOR1A with the cytoskeleton. Interacts with PLEC. Interacts (ATP-bound) with SLC6A3; regulates SLC6A3 transport to the plasma membrane.12 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108193, 39 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O14656

Database of interacting proteins

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DIPi
DIP-34411N

Protein interaction database and analysis system

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IntActi
O14656, 12 interactors

Molecular INTeraction database

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MINTi
O14656

STRING: functional protein association networks

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STRINGi
9606.ENSP00000345719

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1332
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5J1SX-ray1.40A51-332[»]
5J1TX-ray1.40A51-332[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O14656

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O14656

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni91 – 251Interaction with SNAPINAdd BLAST161
Regioni251 – 332Interaction with KLC11 PublicationAdd BLAST82
Regioni312 – 332Interaction with SYNE31 PublicationAdd BLAST21

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ClpA/ClpB family. Torsin subfamily.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2170 Eukaryota
ENOG410XR06 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153192

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000115770

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG054188

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O14656

KEGG Orthology (KO)

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KOi
K22990

Identification of Orthologs from Complete Genome Data

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OMAi
ISYPRLY

Database of Orthologous Groups

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OrthoDBi
1453168at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O14656

TreeFam database of animal gene trees

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TreeFami
TF314941

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR027417 P-loop_NTPase
IPR010448 Torsin
IPR030549 Torsin-1A
IPR017378 Torsin_1/2

The PANTHER Classification System

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PANTHERi
PTHR10760 PTHR10760, 1 hit
PTHR10760:SF15 PTHR10760:SF15, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF06309 Torsin, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF038079 Torsin_2A, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O14656-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKLGRAVLGL LLLAPSVVQA VEPISLGLAL AGVLTGYIYP RLYCLFAECC
60 70 80 90 100
GQKRSLSREA LQKDLDDNLF GQHLAKKIIL NAVFGFINNP KPKKPLTLSL
110 120 130 140 150
HGWTGTGKNF VSKIIAENIY EGGLNSDYVH LFVATLHFPH ASNITLYKDQ
160 170 180 190 200
LQLWIRGNVS ACARSIFIFD EMDKMHAGLI DAIKPFLDYY DLVDGVSYQK
210 220 230 240 250
AMFIFLSNAG AERITDVALD FWRSGKQRED IKLKDIEHAL SVSVFNNKNS
260 270 280 290 300
GFWHSSLIDR NLIDYFVPFL PLEYKHLKMC IRVEMQSRGY EIDEDIVSRV
310 320 330
AEEMTFFPKE ERVFSDKGCK TVFTKLDYYY DD
Length:332
Mass (Da):37,809
Last modified:January 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB69B28D0B4112080
GO
Isoform 2 (identifier: O14656-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-332: DQLQLWIRGN...FTKLDYYYDD → ARMEVWNPFL...SQFPLERCRS

Note: No experimental confirmation available.
Show »
Length:197
Mass (Da):22,135
Checksum:iBD34184941B1B11C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti259D → H in AAP35577 (Ref. 3) Curated1
Sequence conflicti259D → H in AAH00674 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070932205F → I in DYT1; produces intracellular misfolded protein aggregates. 1 PublicationCorresponds to variant dbSNP:rs267607134EnsemblClinVar.1
Natural variantiVAR_020449216D → H1 PublicationCorresponds to variant dbSNP:rs1801968EnsemblClinVar.1
Natural variantiVAR_010788264D → H1 Publication1
Natural variantiVAR_070933288R → Q in DYT1; produces an enlarged perinuclear space. 1 PublicationCorresponds to variant dbSNP:rs727502811EnsemblClinVar.1
Natural variantiVAR_010789303Missing in DYT1; dominant negative; loss of interaction with TOR1AIP1 and TOR1AIP2 with loss of ATPase activity induction; enriched in the nuclear envelope; impairs secretory pathway; produces intracellular misfolded protein aggregates; produces an enlarged perinuclear space. 13 PublicationsCorresponds to variant dbSNP:rs80358233Ensembl.1
Natural variantiVAR_070934323 – 328Missing Found in a patient with early-onset atypical dystonia and myoclonic features. 1 PublicationCorresponds to variant dbSNP:rs80358235Ensembl.6

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_026605149 – 332DQLQL…YYYDD → ARMEVWNPFLDVIGFGVSLL WDEIWEFYVEMSEPGKRFMS QFPLERCRS in isoform 2. 1 PublicationAdd BLAST184

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF007871 mRNA Translation: AAC51732.1
AK314505 mRNA Translation: BAG37105.1
BT006931 mRNA Translation: AAP35577.1
AL158207 Genomic DNA No translation available.
BC000674 mRNA Translation: AAH00674.1
BC014484 mRNA Translation: AAH14484.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS6930.1 [O14656-1]

NCBI Reference Sequences

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RefSeqi
NP_000104.1, NM_000113.2 [O14656-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.534312

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000351698; ENSP00000345719; ENSG00000136827 [O14656-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1861

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1861

UCSC genome browser

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UCSCi
uc004byl.4 human [O14656-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF007871 mRNA Translation: AAC51732.1
AK314505 mRNA Translation: BAG37105.1
BT006931 mRNA Translation: AAP35577.1
AL158207 Genomic DNA No translation available.
BC000674 mRNA Translation: AAH00674.1
BC014484 mRNA Translation: AAH14484.1
CCDSiCCDS6930.1 [O14656-1]
RefSeqiNP_000104.1, NM_000113.2 [O14656-1]
UniGeneiHs.534312

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5J1SX-ray1.40A51-332[»]
5J1TX-ray1.40A51-332[»]
ProteinModelPortaliO14656
SMRiO14656
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108193, 39 interactors
CORUMiO14656
DIPiDIP-34411N
IntActiO14656, 12 interactors
MINTiO14656
STRINGi9606.ENSP00000345719

PTM databases

GlyConnecti1821
iPTMnetiO14656
PhosphoSitePlusiO14656

Polymorphism and mutation databases

BioMutaiTOR1A

Proteomic databases

EPDiO14656
jPOSTiO14656
MaxQBiO14656
PaxDbiO14656
PeptideAtlasiO14656
PRIDEiO14656
ProteomicsDBi48152
48153 [O14656-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1861
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000351698; ENSP00000345719; ENSG00000136827 [O14656-1]
GeneIDi1861
KEGGihsa:1861
UCSCiuc004byl.4 human [O14656-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1861
DisGeNETi1861
EuPathDBiHostDB:ENSG00000136827.11

GeneCards: human genes, protein and diseases

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GeneCardsi
TOR1A
GeneReviewsiTOR1A
HGNCiHGNC:3098 TOR1A
HPAiCAB012473
HPA051195
MalaCardsiTOR1A
MIMi128100 phenotype
605204 gene
neXtProtiNX_O14656
OpenTargetsiENSG00000136827
Orphaneti256 Early-onset generalized limb-onset dystonia
36899 Myoclonus-dystonia syndrome
PharmGKBiPA27556

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2170 Eukaryota
ENOG410XR06 LUCA
GeneTreeiENSGT00940000153192
HOGENOMiHOG000115770
HOVERGENiHBG054188
InParanoidiO14656
KOiK22990
OMAiISYPRLY
OrthoDBi1453168at2759
PhylomeDBiO14656
TreeFamiTF314941

Enzyme and pathway databases

ReactomeiR-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TOR1A human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Torsin_A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1861

Protein Ontology

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PROi
PR:O14656

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000136827 Expressed in 225 organ(s), highest expression level in testis
CleanExiHS_TOR1A
GenevisibleiO14656 HS

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR010448 Torsin
IPR030549 Torsin-1A
IPR017378 Torsin_1/2
PANTHERiPTHR10760 PTHR10760, 1 hit
PTHR10760:SF15 PTHR10760:SF15, 1 hit
PfamiView protein in Pfam
PF06309 Torsin, 1 hit
PIRSFiPIRSF038079 Torsin_2A, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTOR1A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O14656
Secondary accession number(s): B2RB58, Q53Y64, Q96CA0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: January 1, 1998
Last modified: January 16, 2019
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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