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Protein

Torsin-1A

Gene

Tor1a

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.5 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi103 – 1108ATPSequence Analysis

GO - Molecular functioni

  1. ATPase activity Source: UniProtKB
  2. ATP binding Source: UniProtKB-KW
  3. cytoskeletal protein binding Source: UniProtKB
  4. kinesin binding Source: MGI
  5. misfolded protein binding Source: UniProtKB

GO - Biological processi

  1. ATP catabolic process Source: MGI
  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: MGI
  10. nuclear membrane organization Source: MGI
  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
Complete GO annotation...

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 1 (EC:3.6.4.-)
Torsin family 1 member A
Gene namesi
Name:Tor1a
Synonyms:Dyt1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 2

Organism-specific databases

MGIiMGI:1353568. Tor1a.

Subcellular locationi

Endoplasmic reticulum lumen. Nucleus membrane; Peripheral membrane protein. Cell projectiongrowth cone. Cytoplasmic vesicle membrane By similarity. Cell junctionsynapsesynaptosome By similarity. Cytoplasmcytoskeleton By similarity. Cytoplasmic vesiclesecretory vesicle By similarity. Cytoplasmic vesiclesecretory vesiclesynaptic vesicle By similarity
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. cytoplasm Source: MGI
  3. cytoplasmic vesicle membrane Source: UniProtKB
  4. cytoskeleton Source: UniProtKB-SubCell
  5. endoplasmic reticulum Source: MGI
  6. endoplasmic reticulum lumen Source: MGI
  7. extracellular vesicular exosome Source: MGI
  8. extrinsic component of endoplasmic reticulum membrane Source: UniProtKB
  9. growth cone Source: UniProtKB
  10. intracellular membrane-bounded organelle Source: MGI
  11. membrane Source: MGI
  12. nuclear envelope Source: MGI
  13. nuclear membrane Source: MGI
  14. nucleus Source: MGI
  15. secretory granule Source: UniProtKB
  16. synaptic vesicle Source: UniProtKB
  17. transport vesicle Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Disruption phenotypei

Animals fail to feed or vocalize and die within 48 hours of birth. At E18, the global structure of the central nervous system is normal. However, at the cellular level, nuclear envelope abnormalities, with membranous vesicle-appearing structures in the perinuclear space, are observed in multiple areas of the central nervous system, including neurons of the spinal cord, pons, frontal cortex, and hippocampus.2 Publications

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi304 – 3041Missing : Nuclear envelope abnormalities specific to neurons. 1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020By similarityAdd
BLAST
Chaini21 – 333313Torsin-1APRO_0000005508Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi144 – 1441N-linked (GlcNAc...)By similarity
Glycosylationi159 – 1591N-linked (GlcNAc...)By similarity

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9ER39.
PaxDbiQ9ER39.
PRIDEiQ9ER39.

PTM databases

PhosphoSiteiQ9ER39.

Expressioni

Tissue specificityi

Widely expressed (at protein level).2 Publications

Developmental stagei

At E16 and E18, widely expressed with higher expression levels in neural tissues. In the spinal cord, expressed as early as E12 until p21, the expression levels decrease in the adulthood (at protein level).3 Publications

Gene expression databases

BgeeiQ9ER39.
CleanExiMM_TOR1A.
ExpressionAtlasiQ9ER39. baseline and differential.
GenevestigatoriQ9ER39.

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.3 Publications

Protein-protein interaction databases

BioGridi206008. 1 interaction.
MINTiMINT-1836416.

Structurei

3D structure databases

ProteinModelPortaliQ9ER39.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni92 – 252161Interaction with SNAPINBy similarityAdd
BLAST
Regioni252 – 33382Interaction with KLC1By similarityAdd
BLAST
Regioni313 – 33321Interaction with SYNE3By similarityAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG283963.
GeneTreeiENSGT00390000001920.
HOGENOMiHOG000115770.
HOVERGENiHBG054188.
InParanoidiQ9ER39.
OMAiYFPREER.
OrthoDBiEOG7TF791.
PhylomeDBiQ9ER39.
TreeFamiTF314941.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
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.

Sequencei

Sequence statusi: Complete.

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

Q9ER39-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKLGRAALAL LLLAPCVVRA VEPISLSLAL AGVLTTYISY PRLYCLFAEC
60 70 80 90 100
CGQMRSLSRE ALQKDLDNKL FGQHLAKKVI LNAVSGFLSN PKPKKPLTLS
110 120 130 140 150
LHGWTGTGKN FASKIIAENI YEGGLNSDYV HLFVATLHFP HASNITQYKD
160 170 180 190 200
QLQMWIRGNV SACARSIFIF DEMDKMHAGL IDAIKPFLDY YDVVDEVSYQ
210 220 230 240 250
KAIFIFLSNA GAERITDVAL DFWKSGKQRE EIKLRDMEPA LAVSVFNNKN
260 270 280 290 300
SGFWHSSLID RNLIDYFVPF LPLEYKHLKM CIRVEMQSRG YEVDEDIISK
310 320 330
VAEEMTFFPK EEKVFSDKGC KTVFTKLDYY LDD
Length:333
Mass (Da):37,830
Last modified:March 1, 2001 - v1
Checksum:iCD2D7B97E3F03274
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ298841 mRNA. Translation: CAC12785.1.
BC017683 mRNA. Translation: AAH17683.1.
CCDSiCCDS15891.1.
RefSeqiNP_659133.1. NM_144884.2.
UniGeneiMm.154994.

Genome annotation databases

EnsembliENSMUST00000028200; ENSMUSP00000028200; ENSMUSG00000026849.
GeneIDi30931.
KEGGimmu:30931.
UCSCiuc008jdc.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ298841 mRNA. Translation: CAC12785.1.
BC017683 mRNA. Translation: AAH17683.1.
CCDSiCCDS15891.1.
RefSeqiNP_659133.1. NM_144884.2.
UniGeneiMm.154994.

3D structure databases

ProteinModelPortaliQ9ER39.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi206008. 1 interaction.
MINTiMINT-1836416.

PTM databases

PhosphoSiteiQ9ER39.

Proteomic databases

MaxQBiQ9ER39.
PaxDbiQ9ER39.
PRIDEiQ9ER39.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000028200; ENSMUSP00000028200; ENSMUSG00000026849.
GeneIDi30931.
KEGGimmu:30931.
UCSCiuc008jdc.2. mouse.

Organism-specific databases

CTDi1861.
MGIiMGI:1353568. Tor1a.

Phylogenomic databases

eggNOGiNOG283963.
GeneTreeiENSGT00390000001920.
HOGENOMiHOG000115770.
HOVERGENiHBG054188.
InParanoidiQ9ER39.
OMAiYFPREER.
OrthoDBiEOG7TF791.
PhylomeDBiQ9ER39.
TreeFamiTF314941.

Miscellaneous databases

ChiTaRSiTor1a. mouse.
NextBioi307342.
PROiQ9ER39.
SOURCEiSearch...

Gene expression databases

BgeeiQ9ER39.
CleanExiMM_TOR1A.
ExpressionAtlasiQ9ER39. baseline and differential.
GenevestigatoriQ9ER39.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
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.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of the mouse torsinA gene."
    Kuner R., Teismann P., Trutzel A., Naim J., Richter A., Bach A., Ferger B., Schneider A.
    Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Brain.
  2. "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].
    Strain: FVB/N.
    Tissue: Kidney.
  3. "Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope."
    Goodchild R.E., Kim C.E., Dauer W.T.
    Neuron 48:923-932(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN NUCLEAR ENVELOPE INTEGRITY, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, MUTAGENESIS OF GLU-304.
  4. "SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA."
    Esapa C.T., Waite A., Locke M., Benson M.A., Kraus M., McIlhinney R.A., Sillitoe R.V., Beesley P.W., Blake D.J.
    Hum. Mol. Genet. 16:327-342(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN DEGRADATION OF MISFOLDED PROTEINS.
  5. "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.
  6. "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 SYNE3; PLEC AND VIM.
  7. "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.
  8. "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: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, GLYCOSYLATION, DEVELOPMENTAL STAGE.
  9. "A molecular mechanism underlying the neural-specific defect in torsinA mutant mice."
    Kim C.E., Perez A., Perkins G., Ellisman M.H., Dauer W.T.
    Proc. Natl. Acad. Sci. U.S.A. 107:9861-9866(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN NUCLEAR ENVELOPE INTEGRITY, INTERACTION WITH TOR1AIP1, DISRUPTION PHENOTYPE, DEVELOPMENTAL STAGE, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiTOR1A_MOUSE
AccessioniPrimary (citable) accession number: Q9ER39
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: March 1, 2001
Last modified: February 4, 2015
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.