dbPAF Protein Information

Tag Content
dbPAF ID dbPAF-0000714
Uniprot Accession O14656; TOR1A_HUMAN; B2RB58; Q53Y64; Q96CA0;
Genbank Protein ID NP_000104.1;
Genbank Nucleotide ID NM_000113.2;
Protein Name Torsin-1A
Protein Synonyms/Alias Dystonia 1 protein;Torsin ATPase-1A;
Gene Name TOR1A
Gene Synonyms/Alias DQ2;DYT1;TA;TORA;
Organism Homo sapiens(Human)
NCBI Taxa ID 9606
Functional Description
(View all)		 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.
Phosphorylation Sites
 dbPAF PTMs: 2
PositionPeptidesSourceReferences ( PMIDs )
215NAGAERITDVALDFWcurated22199227
224VALDFWRSGKQREDIcurated22199227
Sequence
(Fasta)		MKLGRAVLGL LLLAPSVVQA VEPISLGLAL AGVLTGYIYP RLYCLFAECC GQKRSLSREA 60
LQKDLDDNLF GQHLAKKIIL NAVFGFINNP KPKKPLTLSL HGWTGTGKNF VSKIIAENIY 120
EGGLNSDYVH LFVATLHFPH ASNITLYKDQ LQLWIRGNVS ACARSIFIFD EMDKMHAGLI 180
DAIKPFLDYY DLVDGVSYQK AMFIFLSNAG AERITDVALD FWRSGKQRED IKLKDIEHAL 240
SVSVFNNKNS GFWHSSLIDR NLIDYFVPFL PLEYKHLKMC IRVEMQSRGY EIDEDIVSRV 300
AEEMTFFPKE ERVFSDKGCK TVFTKLDYYY DD 333
Keyword

KW-0025--Alternative splicing
KW-0067--ATP-binding
KW-0965--Cell junction
KW-0966--Cell projection
KW-0143--Chaperone
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0968--Cytoplasmic vesicle
KW-0206--Cytoskeleton
KW-0225--Disease mutation
KW-1023--Dystonia
KW-0256--Endoplasmic reticulum
KW-0325--Glycoprotein
KW-0378--Hydrolase
KW-0472--Membrane
KW-0547--Nucleotide-binding
KW-0539--Nucleus
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0732--Signal
KW-0770--Synapse
Interpro

IPR027417--P-loop_NTPase
IPR010448--Torsin
IPR030549--Torsin-1A
IPR017378--Torsin_1/2
PROSITE
Pfam

PF06309--Torsin
Gene Ontology

GO:0030054--C:cell junction
GO:0030659--C:cytoplasmic vesicle membrane
GO:0005856--C:cytoskeleton
GO:0005783--C:endoplasmic reticulum
GO:0005788--C:endoplasmic reticulum lumen
GO:0070062--C:extracellular exosome
GO:0042406--C:extrinsic component of endoplasmic reticulum membrane
GO:0030426--C:growth cone
GO:0016020--C:membrane
GO:0005635--C:nuclear envelope
GO:0031965--C:nuclear membrane
GO:0030141--C:secretory granule
GO:0008021--C:synaptic vesicle
GO:0030133--C:transport vesicle
GO:0005524--F:ATP binding
GO:0016887--F:ATPase activity
GO:0008092--F:cytoskeletal protein binding
GO:0019894--F:kinesin binding
GO:0051082--F:unfolded protein binding
GO:0007155--P:cell adhesion
GO:0051085--P:chaperone mediated protein folding requiring cofactor
GO:0061077--P:chaperone-mediated protein folding
GO:0072321--P:chaperone-mediated protein transport
GO:0071712--P:ER-associated misfolded protein catabolic process
GO:0045104--P:intermediate filament cytoskeleton organization
GO:0031175--P:neuron projection development
GO:0006998--P:nuclear envelope organization
GO:0071763--P:nuclear membrane organization
GO:0006996--P:organelle organization
GO:1900244--P:positive regulation of synaptic vesicle endocytosis
GO:0000338--P:protein deneddylation
GO:0051260--P:protein homooligomerization
GO:0034504--P:protein localization to nucleus
GO:0051584--P:regulation of dopamine uptake involved in synaptic transmission
GO:2000008--P:regulation of protein localization to cell surface
GO:0006979--P:response to oxidative stress
GO:0048489--P:synaptic vesicle transport
GO:0044319--P:wound healing, spreading of cells