Q9ER39 (TOR1A_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Torsin-1A

Alternative name(s):
Dystonia 1 protein
Torsin family 1 member A

Gene names

Name:	Tor1a
Synonyms:	Dyt1

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	333 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins By similarity. In the nucleus, displaces the nuclear membrane proteins SUN2, SYNE2 and SYNE3, leaving nuclear pores and SUN1 unchanged By similarity.
Subunit structure	May form homohexamers By similarity. Interacts with TOR1AIP1 and TOR1AIP2 By similarity. Interacts with KLHL14. Ref.3
Subcellular location	Endoplasmic reticulum lumen By similarity. Nucleus membrane By similarity. Note: Mainly located in the lumen of the endoplasmic reticulum. The association with nuclear envelope is mediated by the interaction with TOR1AIP2 By similarity.
Sequence similarities	Belongs to the clpA/clpB family. Torsin subfamily.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane Nucleus
Domain	Signal
Ligand	ATP-binding Nucleotide-binding
Molecular function	Chaperone
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	chaperone mediated protein folding requiring cofactor Inferred from electronic annotation. Source: InterPro nuclear membrane organization Inferred from mutant phenotype PubMed 20080676PubMed 20457914. Source: MGI protein homooligomerization Inferred from direct assay PubMed 20015956. Source: MGI
Cellular_component	endoplasmic reticulum lumen Inferred from direct assay PubMed 20015956. Source: MGI nuclear envelope Inferred from direct assay PubMed 20457914. Source: MGI nuclear membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Potential
	Chain	21 – 333	313	Torsin-1A		PRO_0000005508
Regions
	Nucleotide binding	103 – 110	8	ATP Potential
Amino acid modifications
	Glycosylation	144	1	N-linked (GlcNAc...) By similarity
	Glycosylation	159	1	N-linked (GlcNAc...) By similarity

Sequences

	Sequence		Length	Mass (Da)
	Q9ER39 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: CD2D7B97E3F03274	FASTA	333	37,830
	10 20 30 40 50 60 MKLGRAALAL LLLAPCVVRA VEPISLSLAL AGVLTTYISY PRLYCLFAEC CGQMRSLSRE 70 80 90 100 110 120 ALQKDLDNKL FGQHLAKKVI LNAVSGFLSN PKPKKPLTLS LHGWTGTGKN FASKIIAENI 130 140 150 160 170 180 YEGGLNSDYV HLFVATLHFP HASNITQYKD QLQMWIRGNV SACARSIFIF DEMDKMHAGL 190 200 210 220 230 240 IDAIKPFLDY YDVVDEVSYQ KAIFIFLSNA GAERITDVAL DFWKSGKQRE EIKLRDMEPA 250 260 270 280 290 300 LAVSVFNNKN SGFWHSSLID RNLIDYFVPF LPLEYKHLKM CIRVEMQSRG YEVDEDIISK 310 320 330 VAEEMTFFPK EEKVFSDKGC KTVFTKLDYY LDD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ298841 mRNA. Translation: CAC12785.1. BC017683 mRNA. Translation: AAH17683.1.
IPI	IPI00223272.
RefSeq	NP_659133.1. NM_144884.2.
UniGene	Mm.154994.
3D structure databases
ProteinModelPortal	Q9ER39.
SMR	Q9ER39. Positions 95-120.
ModBase	Search...
PTM databases
PhosphoSite	Q9ER39.
Proteomic databases
PaxDb	Q9ER39.
PRIDE	Q9ER39.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000028200; ENSMUSP00000028200; ENSMUSG00000026849.
GeneID	30931.
KEGG	mmu:30931.
Organism-specific databases
CTD	1861.
MGI	MGI:1353568. Tor1a.
Phylogenomic databases
eggNOG	NOG283963.
GeneTree	ENSGT00390000001920.
HOGENOM	HOG000115770.
HOVERGEN	HBG054188.
InParanoid	Q9ER39.
OMA	GAGPGMK.
OrthoDB	EOG4RBQK4.
Gene expression databases
ArrayExpress	Q9ER39.
Bgee	Q9ER39.
CleanEx	MM_TOR1A.
Genevestigator	Q9ER39.
GermOnline	ENSMUSG00000026849. Mus musculus.
Family and domain databases
InterPro	IPR010448. Torsin. IPR017378. Torsin_subgr. [Graphical view]
PANTHER	PTHR10760. PTHR10760. 1 hit.
Pfam	PF06309. Torsin. 1 hit. [Graphical view]
PIRSF	PIRSF038079. Torsin_2A. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	TOR1A. mouse.
NextBio	307342.
SOURCE	Search...

Entry information

Entry name

TOR1A_MOUSE

Accession

Primary (citable) accession number: Q9ER39

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	March 1, 2001
Last modified:	May 1, 2013
This is version 94 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program