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O14656

- TOR1A_HUMAN

UniProt

O14656 - TOR1A_HUMAN

Protein

Torsin-1A

Gene

TOR1A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    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

    Catalytic activityi

    ATP + H2O = ADP + phosphate.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi102 – 1098ATP

    GO - Molecular functioni

    1. ATPase activity Source: UniProtKB
    2. ATP binding Source: UniProtKB-KW
    3. cytoskeletal protein binding Source: UniProtKB
    4. kinesin binding Source: UniProtKB
    5. protein binding Source: UniProtKB
    6. unfolded protein binding Source: ProtInc

    GO - Biological processi

    1. ATP catabolic process Source: UniProtKB
    2. cell adhesion Source: UniProtKB
    3. chaperone-mediated protein folding Source: UniProtKB
    4. chaperone mediated protein folding requiring cofactor Source: InterPro
    5. chaperone-mediated protein transport Source: UniProtKB
    6. ER-associated misfolded protein catabolic process Source: UniProtKB
    7. intermediate filament cytoskeleton organization Source: UniProtKB
    8. neuron projection development Source: UniProtKB
    9. nuclear envelope organization Source: UniProtKB
    10. nuclear membrane organization Source: UniProtKB
    11. organelle organization Source: UniProtKB
    12. positive regulation of synaptic vesicle endocytosis Source: UniProtKB
    13. protein deneddylation Source: UniProtKB
    14. protein homooligomerization Source: MGI
    15. protein localization to nucleus Source: UniProtKB
    16. regulation of dopamine uptake involved in synaptic transmission Source: UniProtKB
    17. regulation of protein localization to cell surface Source: UniProtKB
    18. response to oxidative stress Source: Ensembl
    19. synaptic vesicle transport Source: UniProtKB
    20. wound healing, spreading of cells Source: UniProtKB

    Keywords - Molecular functioni

    Chaperone, Hydrolase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Torsin-1A
    Alternative name(s):
    Dystonia 1 protein
    Torsin ATPase-1A (EC:3.6.4.-)
    Torsin family 1 member A
    Gene namesi
    Name:TOR1A
    Synonyms:DQ2, DYT1, TA, TORA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:3098. TOR1A.

    Subcellular locationi

    Endoplasmic reticulum lumen. Nucleus membrane; Peripheral membrane protein. Cell projectiongrowth cone By similarity. Cytoplasmic vesicle membrane By similarity. Cytoplasmic vesiclesecretory vesicle By similarity. Cytoplasmic vesiclesecretory vesiclesynaptic vesicle. Cytoplasmcytoskeleton
    Note: Upon oxidative stress, redistributes to protusions from the cell surface By similarity. Peripherally associated with the inner face of the ER membrane, probably mediated by the interaction with TOR1AIP1. The association with nucleus membrane is mediated by the interaction with TOR1AIP2.By similarity

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. cytoplasmic vesicle membrane Source: UniProtKB
    3. cytoskeleton Source: UniProtKB-SubCell
    4. endoplasmic reticulum lumen Source: UniProtKB
    5. extracellular vesicular exosome Source: UniProt
    6. extrinsic component of endoplasmic reticulum membrane Source: UniProtKB
    7. growth cone Source: UniProtKB
    8. intracellular membrane-bounded organelle Source: HPA
    9. membrane Source: UniProtKB
    10. nuclear envelope Source: UniProtKB
    11. nuclear membrane Source: HPA
    12. secretory granule Source: UniProtKB
    13. synaptic vesicle Source: UniProtKB
    14. transport vesicle Source: UniProtKB-SubCell

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Dystonia 1, torsion, autosomal dominant (DYT1) [MIM:128100]: 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti205 – 2051F → I in DYT1; produces intracellular misfolded protein aggregates. 1 Publication
    VAR_070932
    Natural varianti288 – 2881R → Q in DYT1; produces an enlarged perinuclear space. 1 Publication
    VAR_070933
    Natural varianti303 – 3031Missing 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. 1 Publication
    Corresponds to variant rs80358233 [ dbSNP | Ensembl ].
    VAR_010789

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi18 – 181V → F: Inhibits sequence signal cleavage. 1 Publication
    Mutagenesisi20 – 201A → F: Inhibits sequence signal cleavage. 1 Publication
    Mutagenesisi33 – 331V → N: N-glycosylated. 1 Publication
    Mutagenesisi108 – 1081K → A: Loss of ATP-binding. No effect on interaction with KLHL14. Increases interaction with TOR1AIP1 and TOR1AIP2. Abolishes interaction with SLC6A3. 3 Publications
    Mutagenesisi143 – 1431N → Q: Reduces N-glycosylation. 1 Publication
    Mutagenesisi158 – 1581N → Q: Reduces N-glycosylation. 1 Publication
    Mutagenesisi171 – 1711E → Q: Loss of ATP hydrolysis. Loss of interaction with KLHL14. Localizes in the nuclear envelope. 4 Publications

    Keywords - Diseasei

    Disease mutation, Dystonia

    Organism-specific databases

    MIMi128100. phenotype.
    Orphaneti256. Early-onset generalized limb-onset dystonia.
    36899. Myoclonus-dystonia syndrome.
    PharmGKBiPA27556.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 20201 PublicationAdd
    BLAST
    Chaini21 – 332312Torsin-1APRO_0000005506Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi143 – 1431N-linked (GlcNAc...) (high mannose)1 Publication
    Glycosylationi158 – 1581N-linked (GlcNAc...) (high mannose)1 Publication

    Post-translational modificationi

    N-glycosylated.3 Publications

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiO14656.
    PaxDbiO14656.
    PRIDEiO14656.

    PTM databases

    PhosphoSiteiO14656.

    Expressioni

    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

    ArrayExpressiO14656.
    BgeeiO14656.
    CleanExiHS_TOR1A.
    GenevestigatoriO14656.

    Organism-specific databases

    HPAiCAB012473.
    HPA051195.

    Interactioni

    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.11 Publications

    Protein-protein interaction databases

    BioGridi108193. 21 interactions.
    DIPiDIP-34411N.
    IntActiO14656. 7 interactions.
    MINTiMINT-7002075.
    STRINGi9606.ENSP00000345719.

    Structurei

    3D structure databases

    ProteinModelPortaliO14656.
    SMRiO14656. Positions 94-119.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni91 – 251161Interaction with SNAPINAdd
    BLAST
    Regioni251 – 33282Interaction with KLC1Add
    BLAST
    Regioni312 – 33221Interaction with SYNE3Add
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG283963.
    HOGENOMiHOG000115770.
    HOVERGENiHBG054188.
    InParanoidiO14656.
    OMAiCCRPEWI.
    OrthoDBiEOG7TF791.
    PhylomeDBiO14656.
    TreeFamiTF314941.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR027417. P-loop_NTPase.
    IPR010448. Torsin.
    IPR017378. Torsin_subgr.
    [Graphical view]
    PANTHERiPTHR10760. PTHR10760. 1 hit.
    PfamiPF06309. Torsin. 1 hit.
    [Graphical view]
    PIRSFiPIRSF038079. Torsin_2A. 1 hit.
    SUPFAMiSSF52540. SSF52540. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MKLGRAVLGL LLLAPSVVQA VEPISLGLAL AGVLTGYIYP RLYCLFAECC    50
    GQKRSLSREA LQKDLDDNLF GQHLAKKIIL NAVFGFINNP KPKKPLTLSL 100
    HGWTGTGKNF VSKIIAENIY EGGLNSDYVH LFVATLHFPH ASNITLYKDQ 150
    LQLWIRGNVS ACARSIFIFD EMDKMHAGLI DAIKPFLDYY DLVDGVSYQK 200
    AMFIFLSNAG AERITDVALD FWRSGKQRED IKLKDIEHAL SVSVFNNKNS 250
    GFWHSSLIDR NLIDYFVPFL PLEYKHLKMC IRVEMQSRGY EIDEDIVSRV 300
    AEEMTFFPKE ERVFSDKGCK TVFTKLDYYY DD 332
    Length:332
    Mass (Da):37,809
    Last modified:January 1, 1998 - v1
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti259 – 2591D → H in AAP35577. 1 PublicationCurated
    Sequence conflicti259 – 2591D → H in AAH00674. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti205 – 2051F → I in DYT1; produces intracellular misfolded protein aggregates. 1 Publication
    VAR_070932
    Natural varianti216 – 2161D → H.
    Corresponds to variant rs1801968 [ dbSNP | Ensembl ].
    VAR_020449
    Natural varianti264 – 2641D → H.1 Publication
    VAR_010788
    Natural varianti288 – 2881R → Q in DYT1; produces an enlarged perinuclear space. 1 Publication
    VAR_070933
    Natural varianti303 – 3031Missing 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. 1 Publication
    Corresponds to variant rs80358233 [ dbSNP | Ensembl ].
    VAR_010789
    Natural varianti323 – 3286Missing Found in a patient with early-onset atypical dystonia and myoclonic features]. 1 Publication
    Corresponds to variant rs80358235 [ dbSNP | Ensembl ].
    VAR_070934

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei149 – 332184DQLQL…YYYDD → ARMEVWNPFLDVIGFGVSLL WDEIWEFYVEMSEPGKRFMS QFPLERCRS in isoform 2. 1 PublicationVSP_026605Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF007871 mRNA. Translation: AAC51732.1.
    AK314505 mRNA. Translation: BAG37105.1.
    BT006931 mRNA. Translation: AAP35577.1.
    AL158207 Genomic DNA. Translation: CAC88168.1.
    BC000674 mRNA. Translation: AAH00674.1.
    BC014484 mRNA. Translation: AAH14484.1.
    CCDSiCCDS6930.1. [O14656-1]
    RefSeqiNP_000104.1. NM_000113.2. [O14656-1]
    UniGeneiHs.534312.

    Genome annotation databases

    EnsembliENST00000351698; ENSP00000345719; ENSG00000136827. [O14656-1]
    GeneIDi1861.
    KEGGihsa:1861.
    UCSCiuc004byl.3. human. [O14656-1]
    uc004byn.3. human. [O14656-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF007871 mRNA. Translation: AAC51732.1 .
    AK314505 mRNA. Translation: BAG37105.1 .
    BT006931 mRNA. Translation: AAP35577.1 .
    AL158207 Genomic DNA. Translation: CAC88168.1 .
    BC000674 mRNA. Translation: AAH00674.1 .
    BC014484 mRNA. Translation: AAH14484.1 .
    CCDSi CCDS6930.1. [O14656-1 ]
    RefSeqi NP_000104.1. NM_000113.2. [O14656-1 ]
    UniGenei Hs.534312.

    3D structure databases

    ProteinModelPortali O14656.
    SMRi O14656. Positions 94-119.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108193. 21 interactions.
    DIPi DIP-34411N.
    IntActi O14656. 7 interactions.
    MINTi MINT-7002075.
    STRINGi 9606.ENSP00000345719.

    PTM databases

    PhosphoSitei O14656.

    Proteomic databases

    MaxQBi O14656.
    PaxDbi O14656.
    PRIDEi O14656.

    Protocols and materials databases

    DNASUi 1861.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000351698 ; ENSP00000345719 ; ENSG00000136827 . [O14656-1 ]
    GeneIDi 1861.
    KEGGi hsa:1861.
    UCSCi uc004byl.3. human. [O14656-1 ]
    uc004byn.3. human. [O14656-2 ]

    Organism-specific databases

    CTDi 1861.
    GeneCardsi GC09M132575.
    GeneReviewsi TOR1A.
    HGNCi HGNC:3098. TOR1A.
    HPAi CAB012473.
    HPA051195.
    MIMi 128100. phenotype.
    605204. gene.
    neXtProti NX_O14656.
    Orphaneti 256. Early-onset generalized limb-onset dystonia.
    36899. Myoclonus-dystonia syndrome.
    PharmGKBi PA27556.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG283963.
    HOGENOMi HOG000115770.
    HOVERGENi HBG054188.
    InParanoidi O14656.
    OMAi CCRPEWI.
    OrthoDBi EOG7TF791.
    PhylomeDBi O14656.
    TreeFami TF314941.

    Miscellaneous databases

    ChiTaRSi TOR1A. human.
    GeneWikii Torsin_A.
    GenomeRNAii 1861.
    NextBioi 7627.
    PROi O14656.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O14656.
    Bgeei O14656.
    CleanExi HS_TOR1A.
    Genevestigatori O14656.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR027417. P-loop_NTPase.
    IPR010448. Torsin.
    IPR017378. Torsin_subgr.
    [Graphical view ]
    PANTHERi PTHR10760. PTHR10760. 1 hit.
    Pfami PF06309. Torsin. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF038079. Torsin_2A. 1 hit.
    SUPFAMi SSF52540. SSF52540. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT DYT1 GLU-303 DEL, VARIANT HIS-264.
      Tissue: Brain cortex, Hippocampus and Substantia nigra.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Kidney and Skin.
    6. "Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations."
      Kustedjo K., Bracey M.H., Cravatt B.F.
      J. Biol. Chem. 275:27933-27939(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-143 AND ASN-158, MUTAGENESIS OF ASN-143 AND ASN-158.
    7. "Immunohistochemical localization and distribution of torsinA in normal human and rat brain."
      Shashidharan P., Kramer B.C., Walker R.H., Olanow C.W., Brin M.F.
      Brain Res. 853:197-206(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    8. Cited for: INTERACTION WITH TOR1B, TISSUE SPECIFICITY, GLYCOSYLATION, SUBCELLULAR LOCATION.
    9. "The early onset dystonia protein torsinA interacts with kinesin light chain 1."
      Kamm C., Boston H., Hewett J., Wilbur J., Corey D.P., Hanson P.I., Ramesh V., Breakefield X.O.
      J. Biol. Chem. 279:19882-19892(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH KLC1, TISSUE SPECIFICITY, CHARACTERIZATION OF VARIANT DYT1 GLU-303 DEL.
    10. "Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant."
      Torres G.E., Sweeney A.L., Beaulieu J.M., Shashidharan P., Caron M.G.
      Proc. Natl. Acad. Sci. U.S.A. 101:15650-15655(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN CELLULAR TRAFFICKING, SUBUNIT, INTERACTION WITH SLC6A3, CHARACTERIZATION OF VARIANT DYT1 GLU-303 DEL, MUTAGENESIS OF LYS-108.
    11. "The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein."
      Goodchild R.E., Dauer W.T.
      J. Cell Biol. 168:855-862(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TOR1AIP1 AND TOR1AIP2.
    12. "Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics."
      Hewett J.W., Zeng J., Niland B.P., Bragg D.C., Breakefield X.O.
      Neurobiol. Dis. 22:98-111(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN CYTOSKELETON ORGANIZATION, CHARACTERIZATION OF VARIANT DYT1 GLU-303 DEL, SUBCELLULAR LOCATION, INTERACTION WITH VIM.
    13. "Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum."
      Callan A.C., Bunning S., Jones O.T., High S., Swanton E.
      Biochem. J. 401:607-612(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, SIGNAL SEQUENCE CLEAVAGE SITE, GLYCOSYLATION, MUTAGENESIS OF VAL-18; ALA-20 AND VAL-33.
    14. "Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells."
      Hewett J.W., Tannous B., Niland B.P., Nery F.C., Zeng J., Li Y., Breakefield X.O.
      Proc. Natl. Acad. Sci. U.S.A. 104:7271-7276(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN PROTEIN PROCESSING, CHARACTERIZATION OF VARIANT DYT1 GLU-303 DEL.
    15. "The dystonia-associated protein torsinA modulates synaptic vesicle recycling."
      Granata A., Watson R., Collinson L.M., Schiavo G., Warner T.T.
      J. Biol. Chem. 283:7568-7579(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN VESICLE RECYCLING, INTERACTION WITH SNAPIN, CHARACTERIZATION OF VARIANT DYT1 GLU-303 DEL.
    16. "TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton."
      Nery F.C., Zeng J., Niland B.P., Hewett J., Farley J., Irimia D., Li Y., Wiche G., Sonnenberg A., Breakefield X.O.
      J. Cell Sci. 121:3476-3486(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN NUCLEAR POLARITY, INTERACTION WITH PLEC; SYNE3 AND VIM, CHARACTERIZATION OF VARIANT DYT1 GLU-303 DEL.
    17. "Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis."
      Giles L.M., Li L., Chin L.S.
      J. Biol. Chem. 284:21765-21775(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH KLHL14, SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-108 AND GLU-171.
    18. "LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation."
      Vander Heyden A.B., Naismith T.V., Snapp E.L., Hodzic D., Hanson P.I.
      Mol. Biol. Cell 20:2661-2672(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, HEXAMERIZATION, SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-108 AND GLU-171.
    19. "The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro."
      Burdette A.J., Churchill P.F., Caldwell G.A., Caldwell K.A.
      Cell Stress Chaperones 15:605-617(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS CHAPERONE, CHARACTERIZATION OF VARIANT DYT1 GLU-303 DEL.
    20. "Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA."
      Jungwirth M., Dear M.L., Brown P., Holbrook K., Goodchild R.
      Hum. Mol. Genet. 19:888-900(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT, MUTAGENESIS OF GLU-171.
    21. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    22. "CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process."
      Granata A., Koo S.J., Haucke V., Schiavo G., Warner T.T.
      EMBO J. 30:181-193(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CSN4; SNAPIN AND STON2, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT DYT1 GLU-303 DEL.
    23. Cited for: FUNCTION, CATALYTIC ACTIVITY, INTERACTION WITH TOR1AIP1 AND TOR1AIP2, CHARACTERIZATION OF VARIANT GLU-303 DEL, MUTAGENESIS OF GLU-171.
    24. "Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism."
      Leung J.C., Klein C., Friedman J., Vieregge P., Jacobs H., Doheny D., Kamm C., DeLeon D., Pramstaller P.P., Penney J.B., Eisengart M., Jankovic J., Gasser T., Bressman S.B., Corey D.P., Kramer P., Brin M.F., Ozelius L.J., Breakefield X.O.
      Neurogenetics 3:133-143(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT 323-PHE--TYR-328 DEL.
    25. Cited for: VARIANT DYT1 GLN-288, CHARACTERIZATION OF VARIANTS DYT1 GLN-288 AND GLU-303 DEL.
    26. "Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia."
      Calakos N., Patel V.D., Gottron M., Wang G., Tran-Viet K.N., Brewington D., Beyer J.L., Steffens D.C., Krishnan R.R., Zuechner S.
      J. Med. Genet. 47:646-650(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DYT1 ILE-205, CHARACTERIZATION OF VARIANTS DYT1 ILE-205 AND GLU-303 DEL.

    Entry informationi

    Entry nameiTOR1A_HUMAN
    AccessioniPrimary (citable) accession number: O14656
    Secondary accession number(s): B2RB58, Q53Y64, Q96CA0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 138 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

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