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Q9ER39

- TOR1A_MOUSE

UniProt

Q9ER39 - TOR1A_MOUSE

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Protein
Torsin-1A
Gene
Tor1a, Dyt1
Organism
Mus musculus (Mouse)
Status
Reviewed - 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 – 1108ATP Reviewed prediction

GO - Molecular functioni

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

GO - Biological processi

  1. ATP catabolic process Source: GOC
  2. ER-associated misfolded protein catabolic process Source: UniProtKB
  3. cell adhesion Source: UniProtKB
  4. chaperone mediated protein folding requiring cofactor Source: InterPro
  5. chaperone-mediated protein folding Source: UniProtKB
  6. chaperone-mediated protein transport 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 TOR1AIP2.2 Publications

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. extrinsic component of endoplasmic reticulum membrane Source: UniProtKB
  8. growth cone Source: UniProtKB
  9. nuclear envelope Source: MGI
  10. nuclear membrane Source: UniProtKB-SubCell
  11. nucleus Source: MGI
  12. secretory granule Source: UniProtKB
  13. synaptic vesicle Source: UniProtKB
  14. 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 – 2020 By similarity
Add
BLAST
Chaini21 – 333313Torsin-1A
PRO_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

ArrayExpressiQ9ER39.
BgeeiQ9ER39.
CleanExiMM_TOR1A.
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.
SMRiQ9ER39. Positions 95-122.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni92 – 252161Interaction with SNAPIN By similarity
Add
BLAST
Regioni252 – 33382Interaction with KLC1 By similarity
Add
BLAST
Regioni313 – 33321Interaction with SYNE3 By similarity
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG283963.
GeneTreeiENSGT00390000001920.
HOGENOMiHOG000115770.
HOVERGENiHBG054188.
InParanoidiQ9ER39.
OMAiCCRPEWI.
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

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MKLGRAALAL LLLAPCVVRA VEPISLSLAL AGVLTTYISY PRLYCLFAEC    50
CGQMRSLSRE ALQKDLDNKL FGQHLAKKVI LNAVSGFLSN PKPKKPLTLS 100
LHGWTGTGKN FASKIIAENI YEGGLNSDYV HLFVATLHFP HASNITQYKD 150
QLQMWIRGNV SACARSIFIF DEMDKMHAGL IDAIKPFLDY YDVVDEVSYQ 200
KAIFIFLSNA GAERITDVAL DFWKSGKQRE EIKLRDMEPA LAVSVFNNKN 250
SGFWHSSLID RNLIDYFVPF LPLEYKHLKM CIRVEMQSRG YEVDEDIISK 300
VAEEMTFFPK EEKVFSDKGC KTVFTKLDYY LDD 333
Length:333
Mass (Da):37,830
Last modified:March 1, 2001 - v1
Checksum:iCD2D7B97E3F03274
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
Links Updated
AJ298841 mRNA. Translation: CAC12785.1 .
BC017683 mRNA. Translation: AAH17683.1 .
CCDSi CCDS15891.1.
RefSeqi NP_659133.1. NM_144884.2.
UniGenei Mm.154994.

3D structure databases

ProteinModelPortali Q9ER39.
SMRi Q9ER39. Positions 95-122.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 206008. 1 interaction.
MINTi MINT-1836416.

PTM databases

PhosphoSitei Q9ER39.

Proteomic databases

MaxQBi Q9ER39.
PaxDbi Q9ER39.
PRIDEi Q9ER39.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000028200 ; ENSMUSP00000028200 ; ENSMUSG00000026849 .
GeneIDi 30931.
KEGGi mmu:30931.
UCSCi uc008jdc.2. mouse.

Organism-specific databases

CTDi 1861.
MGIi MGI:1353568. Tor1a.

Phylogenomic databases

eggNOGi NOG283963.
GeneTreei ENSGT00390000001920.
HOGENOMi HOG000115770.
HOVERGENi HBG054188.
InParanoidi Q9ER39.
OMAi CCRPEWI.
OrthoDBi EOG7TF791.
PhylomeDBi Q9ER39.
TreeFami TF314941.

Miscellaneous databases

ChiTaRSi TOR1A. mouse.
NextBioi 307342.
PROi Q9ER39.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9ER39.
Bgeei Q9ER39.
CleanExi MM_TOR1A.
Genevestigatori Q9ER39.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
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

« 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: July 9, 2014
This is version 106 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