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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

  • ATPase activity Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • cytoskeletal protein binding Source: UniProtKB
  • kinesin binding Source: MGI
  • misfolded protein binding Source: UniProtKB

GO - Biological processi

  • cell adhesion Source: UniProtKB
  • chaperone-mediated protein folding Source: UniProtKB
  • chaperone mediated protein folding requiring cofactor Source: InterPro
  • chaperone-mediated protein transport Source: UniProtKB
  • ER-associated misfolded protein catabolic process Source: UniProtKB
  • intermediate filament cytoskeleton organization Source: UniProtKB
  • neuron projection development Source: UniProtKB
  • nuclear envelope organization Source: MGI
  • nuclear membrane organization Source: MGI
  • organelle organization Source: UniProtKB
  • positive regulation of synaptic vesicle endocytosis Source: UniProtKB
  • protein deneddylation Source: UniProtKB
  • protein homooligomerization Source: MGI
  • protein localization to nucleus Source: UniProtKB
  • regulation of dopamine uptake involved in synaptic transmission Source: UniProtKB
  • regulation of protein localization to cell surface Source: UniProtKB
  • response to oxidative stress Source: Ensembl
  • synaptic vesicle transport Source: UniProtKB
  • 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
Proteomesi
  • UP000000589 Componenti: Chromosome 2

Organism-specific databases

MGIiMGI:1353568. Tor1a.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: UniProtKB-KW
  • cytoplasm Source: MGI
  • cytoplasmic vesicle membrane Source: UniProtKB
  • cytoskeleton Source: UniProtKB-SubCell
  • endoplasmic reticulum Source: MGI
  • endoplasmic reticulum lumen Source: MGI
  • extracellular exosome Source: MGI
  • extrinsic component of endoplasmic reticulum membrane Source: UniProtKB
  • growth cone Source: UniProtKB
  • membrane Source: MGI
  • nuclear envelope Source: MGI
  • nuclear membrane Source: UniProtKB-SubCell
  • nucleus Source: MGI
  • secretory granule Source: UniProtKB
  • synaptic vesicle Source: UniProtKB
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

EPDiQ9ER39.
MaxQBiQ9ER39.
PaxDbiQ9ER39.
PRIDEiQ9ER39.

PTM databases

iPTMnetiQ9ER39.
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

BgeeiENSMUSG00000026849.
CleanExiMM_TOR1A.
ExpressionAtlasiQ9ER39. baseline and differential.
GenevisibleiQ9ER39. MM.

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

GO - Molecular functioni

  • cytoskeletal protein binding Source: UniProtKB
  • kinesin binding Source: MGI
  • misfolded protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi206008. 1 interaction.
MINTiMINT-1836416.
STRINGi10090.ENSMUSP00000028200.

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

eggNOGiKOG2170. Eukaryota.
ENOG410XR06. LUCA.
GeneTreeiENSGT00390000001920.
HOGENOMiHOG000115770.
HOVERGENiHBG054188.
InParanoidiQ9ER39.
OMAiKTTMIES.
OrthoDBiEOG091G0B5F.
PhylomeDBiQ9ER39.
TreeFamiTF314941.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR010448. Torsin.
IPR030549. Torsin-1A.
IPR017378. Torsin_1/2.
[Graphical view]
PANTHERiPTHR10760. PTHR10760. 1 hit.
PTHR10760:SF15. PTHR10760:SF15. 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.
STRINGi10090.ENSMUSP00000028200.

PTM databases

iPTMnetiQ9ER39.
PhosphoSiteiQ9ER39.

Proteomic databases

EPDiQ9ER39.
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

eggNOGiKOG2170. Eukaryota.
ENOG410XR06. LUCA.
GeneTreeiENSGT00390000001920.
HOGENOMiHOG000115770.
HOVERGENiHBG054188.
InParanoidiQ9ER39.
OMAiKTTMIES.
OrthoDBiEOG091G0B5F.
PhylomeDBiQ9ER39.
TreeFamiTF314941.

Miscellaneous databases

ChiTaRSiTor1a. mouse.
PROiQ9ER39.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000026849.
CleanExiMM_TOR1A.
ExpressionAtlasiQ9ER39. baseline and differential.
GenevisibleiQ9ER39. MM.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR010448. Torsin.
IPR030549. Torsin-1A.
IPR017378. Torsin_1/2.
[Graphical view]
PANTHERiPTHR10760. PTHR10760. 1 hit.
PTHR10760:SF15. PTHR10760:SF15. 1 hit.
PfamiPF06309. Torsin. 1 hit.
[Graphical view]
PIRSFiPIRSF038079. Torsin_2A. 1 hit.
SUPFAMiSSF52540. SSF52540. 1 hit.
ProtoNetiSearch...

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: September 7, 2016
This is version 124 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

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 one 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.