O14657 (TOR1B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Torsin-1B

Alternative name(s):
Torsin family 1 member B

Gene names

Name:	TOR1B
Synonyms:	DQ1
ORF Names:	FKSG18

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	336 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.
Subcellular location	Endoplasmic reticulum lumen By similarity.
Tissue specificity	Widely expressed with low levels in brain. Not detected in fetal brain.
Sequence similarities	Belongs to the clpA/clpB family. Torsin subfamily.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum
Coding sequence diversity	Polymorphism
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 electronic annotation. Source: Compara protein homooligomerization Inferred from direct assay PubMed 20015956. Source: MGI response to unfolded protein Traceable author statement PubMed 10644435. Source: ProtInc
Cellular_component	endoplasmic reticulum lumen Inferred from direct assay PubMed 20015956. Source: MGI nuclear envelope Inferred from electronic annotation. Source: Compara
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW nucleoside-triphosphatase activity Inferred from electronic annotation. Source: InterPro unfolded protein binding Traceable author statement Ref.4. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 24	24	Potential
	Chain	25 – 336	312	Torsin-1B		PRO_0000005509
Regions
	Nucleotide binding	109 – 116	8	ATP Potential
Amino acid modifications
	Glycosylation	64	1	N-linked (GlcNAc...) Potential
	Glycosylation	165	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	54	1	A → T. Corresponds to variant rs10988518 [ dbSNP | Ensembl ].		VAR_059220

Sequences

	Sequence		Length	Mass (Da)
	O14657 [UniParc]. Last modified April 27, 2001. Version 2. Checksum: E729360E6468A3FC	FASTA	336	37,979
	10 20 30 40 50 60 MLRAGWLRGA AALALLLAAR VVAAFEPITV GLAIGAASAI TGYLSYNDIY CRFAECCREE 70 80 90 100 110 120 RPLNASALKL DLEEKLFGQH LATEVIFKAL TGFRNNKNPK KPLTLSLHGW AGTGKNFVSQ 130 140 150 160 170 180 IVAENLHPKG LKSNFVHLFV STLHFPHEQK IKLYQDQLQK WIRGNVSACA NSVFIFDEMD 190 200 210 220 230 240 KLHPGIIDAI KPFLDYYEQV DGVSYRKAIF IFLSNAGGDL ITKTALDFWR AGRKREDIQL 250 260 270 280 290 300 KDLEPVLSVG VFNNKHSGLW HSGLIDKNLI DYFIPFLPLE YRHVKMCVRA EMRARGSAID 310 320 330 EDIVTRVAEE MTFFPRDEKI YSDKGCKTVQ SRLDFH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of FKSG18, a novel gene located on human chromosome 9." Wang Y.-G., Gong L. Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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]. Tissue: Kidney.
[4]	"The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein." Ozelius L.J., Hewett J.W., Page C.E., Bressman S.B., Kramer P.L., Shalish C., de Leon D., Brin M.F., Raymond D., Corey D.P., Fahn S., Risch N.J., Buckler A.J., Gusella J.F., Breakefield X.O. Nat. Genet. 17:40-48(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 71-336. Tissue: Brain cortex, Fetal brain and Liver.
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF317129 mRNA. Translation: AAG50271.1. AL158207 Genomic DNA. Translation: CAC88165.1. BC015578 mRNA. Translation: AAH15578.1. AF007872 mRNA. Translation: AAC51733.1.
IPI	IPI00023137.
RefSeq	NP_055321.1. NM_014506.1.
UniGene	Hs.252682.
3D structure databases
ProteinModelPortal	O14657.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-56930N.
IntAct	O14657. 1 interaction.
STRING	9606.ENSP00000259339.
PTM databases
PhosphoSite	O14657.
Proteomic databases
PaxDb	O14657.
PRIDE	O14657.
Protocols and materials databases
DNASU	27348.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000259339; ENSP00000259339; ENSG00000136816.
GeneID	27348.
KEGG	hsa:27348.
UCSC	uc004byk.1. human.
Organism-specific databases
CTD	27348.
GeneCards	GC09P132565.
HGNC	HGNC:11995. TOR1B.
HPA	CAB022709. HPA013403. HPA013697.
MIM	608050. gene.
neXtProt	NX_O14657.
PharmGKB	PA36676.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG283963.
HOGENOM	HOG000115770.
HOVERGEN	HBG054188.
InParanoid	O14657.
OMA	YEQIDGV.
OrthoDB	EOG4RBQK4.
Gene expression databases
ArrayExpress	O14657.
Bgee	O14657.
CleanEx	HS_TOR1B.
Genevestigator	O14657.
GermOnline	ENSG00000136816. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. 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.
SMART	SM00382. AAA. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	27348.
NextBio	50442.
SOURCE	Search...

Entry information

Entry name

TOR1B_HUMAN

Accession

Primary (citable) accession number: O14657

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	April 27, 2001
Last modified:	May 1, 2013
This is version 116 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.