UniProt Accession

 TOR1A_HUMAN; O14656; B2RB58; Q53Y64; Q96CA0 

Genbank Protein ID

 AF007871; AK314505; BT006931; AL158207; BC000674; BC014484 

Genbank Nucleotide ID

 AAC51732.1; BAG37105.1; AAP35577.1; CAC88168.1; AAH00674.1; AAH14484.1 

Protein Name

 Torsin-1A 

Protein Synonyms/Alias

 Dystonia 1 protein; Torsin family 1 member A 

Gene Name

 TOR1A 

Gene Synonyms/Alias

 DQ2; DYT1 

Created Date

 July 27, 2013 

Organism

 Homo sapiens (Human) 

NCBI Taxa ID

 9606 

Lysine Modification

Position	Peptide	Type	References
53	FAECCGQKRSLSREA	ubiquitination	[1]
309	EEMTFFPKEERVFSD	ubiquitination	[1, 2]
325	GCKTVFTKLDYYYDD	ubiquitination	[2]

Reference

 [1] Refined preparation and use of anti-diglycine remnant (K-ε-GG) antibody enables routine quantification of 10,000s of ubiquitination sites in single proteomics experiments.
 Udeshi ND, Svinkina T, Mertins P, Kuhn E, Mani DR, Qiao JW, Carr SA.
 Mol Cell Proteomics. 2013 Mar;12(3):825-31. [PMID: 23266961]
 [2] Systematic and quantitative assessment of the ubiquitin-modified proteome.
 Kim W, Bennett EJ, Huttlin EL, Guo A, Li J, Possemato A, Sowa ME, Rad R, Rush J, Comb MJ, Harper JW, Gygi SP.
 Mol Cell. 2011 Oct 21;44(2):325-40. [PMID: 21906983] 

Functional Description

 May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. In the nucleus, displaces the nuclear membrane proteins SUN2, SYNE2 and SYNE3, leaving nuclear pores and SUN1 unchanged. 

Sequence Annotation

 NP_BIND 102 109 ATP.
 CARBOHYD 143 143 N-linked (GlcNAc...) (high mannose).
 CARBOHYD 158 158 N-linked (GlcNAc...) (high mannose).  

Keyword

 Alternative splicing; ATP-binding; Chaperone; Complete proteome; Disease mutation; Dystonia; Endoplasmic reticulum; Glycoprotein; Membrane; Nucleotide-binding; Nucleus; Polymorphism; Reference proteome; Signal. 

Sequence Source

 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 

Protein Length

 332 AA 

Protein Sequence

Gene Ontology

 GO:0005788; C:endoplasmic reticulum lumen; IDA:MGI.
 GO:0031965; C:nuclear membrane; IEA:UniProtKB-SubCell.
 GO:0005524; F:ATP binding; TAS:ProtInc.
 GO:0004252; F:serine-type endopeptidase activity; TAS:ProtInc.
 GO:0051082; F:unfolded protein binding; TAS:ProtInc.
 GO:0051085; P:chaperone mediated protein folding requiring cofactor; IEA:InterPro.
 GO:0071763; P:nuclear membrane organization; IEA:Compara.
 GO:0006457; P:protein folding; TAS:ProtInc.
 GO:0051260; P:protein homooligomerization; IDA:MGI.
 GO:0006986; P:response to unfolded protein; TAS:ProtInc. 

Interpro

 IPR027417; P-loop_NTPase.
 IPR010448; Torsin.
 IPR017378; Torsin_subgr. 

Pfam

 PF06309; Torsin 

SMART

  

PROSITE

  

PRINTS