Entity Details

Primary name TOR1A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO14656
EntryNameTOR1A_HUMAN
FullNameTorsin-1A
TaxID9606
Evidenceevidence at protein level
Length332
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesTOR1A

GO terms

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GOName
GO:0000338 protein deneddylation
GO:0005524 ATP binding
GO:0005635 nuclear envelope
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0006979 response to oxidative stress
GO:0006996 organelle organization
GO:0006998 nuclear envelope organization
GO:0007155 cell adhesion
GO:0008021 synaptic vesicle
GO:0008092 cytoskeletal protein binding
GO:0016020 membrane
GO:0016887 ATP hydrolysis activity
GO:0019894 kinesin binding
GO:0030141 secretory granule
GO:0030426 growth cone
GO:0030659 cytoplasmic vesicle membrane
GO:0031175 neuron projection development
GO:0031965 nuclear membrane
GO:0034504 protein localization to nucleus
GO:0042406 extrinsic component of endoplasmic reticulum membrane
GO:0042802 identical protein binding
GO:0043231 intracellular membrane-bounded organelle
GO:0044319 wound healing, spreading of cells
GO:0045104 intermediate filament cytoskeleton organization
GO:0048489 synaptic vesicle transport
GO:0051082 unfolded protein binding
GO:0051085 chaperone cofactor-dependent protein refolding
GO:0051584 regulation of dopamine uptake involved in synaptic transmission
GO:0051787 misfolded protein binding
GO:0061077 chaperone-mediated protein folding
GO:0070062 extracellular exosome
GO:0071712 ER-associated misfolded protein catabolic process
GO:0071763 nuclear membrane organization
GO:0072321 obsolete chaperone-mediated protein transport
GO:1900244 positive regulation of synaptic vesicle endocytosis
GO:2000008 regulation of protein localization to cell surface

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Cytoplasmic vesicle
Cytoplasmic vesicle membrane
Endoplasmic reticulum lumen
Nucleus membrane

Domains

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DomainNameCategoryType
IPR010448 TorsinFamilyFamily
IPR017378 Torsin 1/2FamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR030549 Torsin-1AFamilyFamily

Diseases

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Disease IDSourceNameDescription
128100 OMIMDystonia 1, torsion, autosomal dominant (DYT1)A 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

65 interactions

InteractorPartnerSourcesPublicationsLink
TOR1A_HUMANTOIP2_HUMANBioGRID, HPRD, IntAct, UniProt15767459 19339278 19651773 20861018 23569223 25352667 27490483 details
TOR1A_HUMANCSN4_HUMANBioGRID, MINT21102408 details
TOR1A_HUMANKR107_HUMANBioGRID, IntAct25416956 25910212 details
TOR1A_HUMANMDFI_HUMANBioGRID, IntAct32296183 details
TOR1A_HUMANTOIP1_HUMANBioGRID, DIP, UniProt15767459 19651773 20457914 20861018 23569223 25352667 details
TOR1A_HUMANMOFA1_HUMANIntAct32814053 details
TOR1A_HUMANHUMMR_HUMANIntAct32814053 details
TOR1A_HUMANCHMP6_HUMANIntAct32814053 details
TOR1A_HUMANAB17C_HUMANIntAct32814053 details
TOR1A_HUMANDAZ3_HUMANIntAct32814053 details
TOR1A_HUMANASIC4_HUMANIntAct32814053 details
TOR1A_HUMANGLP3L_HUMANIntAct32814053 details
TOR1A_HUMANCEP55_HUMANIntAct32814053 details
TOR1A_HUMANTSAP1_HUMANIntAct32814053 details
TOR1A_HUMANEVL_HUMANIntAct32814053 details
TOR1A_HUMANSCAPE_HUMANIntAct32814053 details
TOR1A_HUMANERAL1_HUMANIntAct32814053 details
TOR1A_HUMANRAB38_HUMANIntAct32814053 details
TOR1A_HUMANPARK7_HUMANIntAct32814053 details
TOR1A_HUMANDDX20_HUMANIntAct32814053 details
TOR1A_HUMANKAT5_HUMANIntAct32814053 details
TOR1A_HUMANPDZ1I_HUMANIntAct32814053 details
TOR1A_HUMANOPTN_HUMANIntAct32814053 details
TOR1A_HUMANCLC2B_HUMANIntAct32814053 details
TOR1A_HUMANIQEC1_HUMANIntAct32814053 details
TOR1A_HUMANDELE1_HUMANIntAct32814053 details
TOR1A_HUMANTRAF4_HUMANIntAct32814053 details
TOR1A_HUMANCDC23_HUMANIntAct32814053 details
TOR1A_HUMANSTX11_HUMANIntAct32814053 details
TOR1A_HUMANCSN3_HUMANIntAct32814053 details
TOR1A_HUMANTGM2_HUMANIntAct32814053 details
TOR1A_HUMANSNF5_HUMANIntAct32814053 details
TOR1A_HUMANPIP_HUMANIntAct32814053 details
TOR1A_HUMANP85A_HUMANIntAct32814053 details
TOR1A_HUMANNDKM_HUMANIntAct32814053 details
TOR1A_HUMANSEPT2_HUMANIntAct32814053 details
TOR1A_HUMANMSH5_HUMANIntAct32814053 details
TOR1A_HUMANMNDA_HUMANIntAct32814053 details
TOR1A_HUMANIBP4_HUMANIntAct32814053 details
TOR1A_HUMANH2AZ_HUMANIntAct32814053 details
TOR1A_HUMANCTNB1_HUMANIntAct32814053 details
TOR1A_HUMANPRDM1_HUMANIntAct32814053 details
TOR1A_HUMANAP2B1_HUMANIntAct32814053 details
TOR1A_HUMANRAB3I_HUMANIntAct32814053 details
TOR1A_HUMANTDIF1_HUMANIntAct32814053 details
TOR1A_HUMANS52A3_HUMANIntAct32814053 details
TOR1A_HUMANATIF1_HUMANIntAct32814053 details
TOR1A_HUMANCBWD3_HUMANIntAct32814053 details
TOR1A_HUMANSPT12_HUMANIntAct32814053 details
TOR1A_HUMANKR191_HUMANIntAct32814053 details
TOR1A_HUMANFOXR1_HUMANIntAct32814053 details
TOR1A_HUMANIQUB_HUMANIntAct32814053 details
TOR1A_HUMANA4_HUMANIntAct32814053 details
TOR1A_HUMANSYUA_HUMANBioGRID, HPRD11438481 details
TOR1A_HUMANLMNA_HUMANBioGRID8324822 details
TOR1A_HUMANIFG15_HUMANBioGRID15767459 19339278 19651773 20861018 23569223 25352667 27490483 details
TOR1A_HUMANTOR1A_HUMANBioGRID19339278 19651773 details
TOR1A_HUMANLRRC7_HUMANHPRD, IntAct15767459 details
TOR1A_HUMANTOR1B_HUMANBioGRID, HPRD15147511 details
TOR1A_HUMANFBX2_HUMANBioGRID22917612 details
TOR1A_HUMANSNAPN_HUMANBioGRID21102408 details
TOR1A_HUMANSTON2_HUMANBioGRID21102408 details
TOR1A_HUMANKLH14_HUMANBioGRID19535332 details
TOR1A_HUMANTOR3A_HUMANBioGRID19651773 details
TOR1A_HUMANCALX_HUMANBioGRID19651773 23569223 26186194 details